Name

Roadmap Epigenomics Cell and Tissue DNA Accessibility Profiles Dataset

From Roadmap Epigenomics

DNA accessibility profiles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles Dataset

From Roadmap Epigenomics

DNA methylation profiles for primary cell types and tissues

ENCODE Histone Modification Site Profiles Dataset

From Encyclopedia of DNA Elements

histone modification profiles for cell lines

ENCODE Transcription Factor Binding Site Profiles Dataset

From Encyclopedia of DNA Elements

transcription factor binding site profiles for cell lines

ENCODE Transcription Factor Targets Dataset

From Encyclopedia of DNA Elements

target genes of transcription factors from transcription factor binding site profiles

ERCM1 Gene

excision repair complementing defective repair in mouse cells

MMS19 Gene

MMS19 nucleotide excision repair homolog (S. cerevisiae)

ERCC6 Gene

excision repair cross-complementation group 6

This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]

ERCC8 Gene

excision repair cross-complementation group 8

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

ERCC1 Gene

excision repair cross-complementation group 1

The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

ERCC2 Gene

excision repair cross-complementation group 2

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

ERCC3 Gene

excision repair cross-complementation group 3

This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

ERCC4 Gene

excision repair cross-complementation group 4

The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]

ERCC5 Gene

excision repair cross-complementation group 5

This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

ERCC6L Gene

excision repair cross-complementation group 6-like

ERCC6L2 Gene

excision repair cross-complementation group 6-like 2

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

XRCC8 Gene

X-ray repair complementing defective repair in Chinese hamster cells 8

XRCC1 Gene

X-ray repair complementing defective repair in Chinese hamster cells 1

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

XRCC3 Gene

X-ray repair complementing defective repair in Chinese hamster cells 3

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

XRCC2 Gene

X-ray repair complementing defective repair in Chinese hamster cells 2

This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008]

XRCC5 Gene

X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)

The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

XRCC4 Gene

X-ray repair complementing defective repair in Chinese hamster cells 4

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. The non-homologous end-joining pathway is required both for normal development and for suppression of tumors. This gene functionally complements XR-1 Chinese hamster ovary cell mutant, which is impaired in DNA double-strand breaks produced by ionizing radiation and restriction enzymes. Alternative transcription initiation and alternative splicing generates several transcript variants. [provided by RefSeq, Sep 2008]

XRCC6 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6

The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]

XRCC6P4 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 4

XRCC6P5 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 5

XRCC6P1 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 1

XRCC6P3 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 3

XRCC6P2 Gene

X-ray repair complementing defective repair in Chinese hamster cells 6 pseudogene 2

DDIT3 Gene

DNA-damage-inducible transcript 3

This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]

DDIT4 Gene

DNA-damage-inducible transcript 4

DDI2 Gene

DNA-damage inducible 1 homolog 2 (S. cerevisiae)

DDI1 Gene

DNA-damage inducible 1 homolog 1 (S. cerevisiae)

GADD45A Gene

growth arrest and DNA-damage-inducible, alpha

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]

GADD45B Gene

growth arrest and DNA-damage-inducible, beta

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]

GADD45G Gene

growth arrest and DNA-damage-inducible, gamma

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]

DDB2 Gene

damage-specific DNA binding protein 2, 48kDa

This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

LOC101059974 Gene

p53 and DNA damage-regulated protein 1 pseudogene

GADD45GIP1 Gene

growth arrest and DNA-damage-inducible, gamma interacting protein 1

This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]

LOC727709 Gene

DNA-damage regulated autophagy modulator 1 pseudogene

GADD45AP1 Gene

growth arrest and DNA-damage-inducible, alpha pseudogene 1

DRAM1 Gene

DNA-damage regulated autophagy modulator 1

This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]

DRAM2 Gene

DNA-damage regulated autophagy modulator 2

PDRG1 Gene

p53 and DNA-damage regulated 1

DDIT4L Gene

DNA-damage-inducible transcript 4-like

DDB1 Gene

damage-specific DNA binding protein 1, 127kDa

The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]

DDIAS Gene

DNA damage-induced apoptosis suppressor

MDC1 Gene

mediator of DNA-damage checkpoint 1

The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]

PANDAR Gene

promoter of CDKN1A antisense DNA damage activated RNA

DCLRE1CP1 Gene

DNA cross-link repair 1C pseudogene 1

LOC646804 Gene

alkylated DNA repair protein alkB homolog 8-like

DCLRE1B Gene

DNA cross-link repair 1B

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]

DCLRE1C Gene

DNA cross-link repair 1C

This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

DCLRE1A Gene

DNA cross-link repair 1A

This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

APEX1 Gene

APEX nuclease (multifunctional DNA repair enzyme) 1

Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]

SPIDR Gene

scaffolding protein involved in DNA repair

MMS22L Gene

MMS22-like, DNA repair protein

TONSL Gene

tonsoku-like, DNA repair protein

The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]

LOC100420930 Gene

SWI5 recombination repair homolog (yeast) pseudogene

ALKBH8 Gene

alkB, alkylation repair homolog 8 (E. coli)

ALKBH7 Gene

alkB, alkylation repair homolog 7 (E. coli)

ALKBH2 Gene

alkB, alkylation repair homolog 2 (E. coli)

The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]

ALKBH3 Gene

alkB, alkylation repair homolog 3 (E. coli)

The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]

ALKBH1 Gene

alkB, alkylation repair homolog 1 (E. coli)

This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]

SFR1 Gene

SWI5-dependent recombination repair 1

SWI5 Gene

SWI5 recombination repair homolog (yeast)

TREX1 Gene

three prime repair exonuclease 1

This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

ALKBH4 Gene

alkB, alkylation repair homolog 4 (E. coli)

ALKBH6 Gene

alkB, alkylation repair homolog 6 (E. coli)

TREX2 Gene

three prime repair exonuclease 2

This gene encodes a nuclear protein with 3' to 5' exonuclease activity. The encoded protein participates in double-stranded DNA break repair, and may interact with DNA polymerase delta. [provided by RefSeq, Nov 2012]

SLC17A9 Gene

solute carrier family 17 (vesicular nucleotide transporter), member 9

This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

CNGB1 Gene

cyclic nucleotide gated channel beta 1

In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

RAPGEF5 Gene

Rap guanine nucleotide exchange factor (GEF) 5

Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

RAPGEF6 Gene

Rap guanine nucleotide exchange factor (GEF) 6

RAPGEF1 Gene

Rap guanine nucleotide exchange factor (GEF) 1

This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

RAPGEF2 Gene

Rap guanine nucleotide exchange factor (GEF) 2

Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]

RAPGEF3 Gene

Rap guanine nucleotide exchange factor (GEF) 3

SLC25A36 Gene

solute carrier family 25 (pyrimidine nucleotide carrier), member 36

SLC25A31 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31

Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM, Mar 2008]

SLC25A33 Gene

solute carrier family 25 (pyrimidine nucleotide carrier), member 33

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]

SLC25A5P2 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2

SLC25A5P4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4

SLC25A5P7 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7

VAV1 Gene

vav 1 guanine nucleotide exchange factor

This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]

VAV3 Gene

vav 3 guanine nucleotide exchange factor

This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

VAV2 Gene

vav 2 guanine nucleotide exchange factor

VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

RABGEF1 Gene

RAB guanine nucleotide exchange factor (GEF) 1

RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]

ARHGEF37 Gene

Rho guanine nucleotide exchange factor (GEF) 37

GS1-124K5.11 Gene

RAB guanine nucleotide exchange factor (GEF) 1 pseudogene

GNG5P4 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 4

CNGB3 Gene

cyclic nucleotide gated channel beta 3

This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]

GNG10P1 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene 1

GNL3LP1 Gene

guanine nucleotide binding protein-like 3 (nucleolar)-like pseudogene 1

RIC8B Gene

RIC8 guanine nucleotide exchange factor B

RIC8A Gene

RIC8 guanine nucleotide exchange factor A

GNG5P1 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 1

GNG5P3 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 3

GNG5P2 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2

GNG5P5 Gene

guanine nucleotide binding protein (G protein), gamma 5 pseudogene 5

GNL3L Gene

guanine nucleotide binding protein-like 3 (nucleolar)-like

The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

SLC25A5P8 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8

SLC25A5P9 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9

SLC25A5P1 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1

SLC25A5P3 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3

ARHGEF34P Gene

Rho guanine nucleotide exchange factor (GEF) 34, pseudogene

EEF1D Gene

eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)

This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]

GNB2L1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1

LOC346329 Gene

guanine nucleotide binding protein (G protein), alpha 11 (Gq class) pseudogene

GNA14 Gene

guanine nucleotide binding protein (G protein), alpha 14

This gene encodes a member of the guanine nucleotide-binding, or G protein family. G proteins are heterotrimers consisting of alpha, beta and gamma subunits. The encoded protein is a member of the alpha family of G proteins, more specifically the alpha q subfamily of G proteins. The encoded protein may play a role in pertussis-toxin resistant activation of phospholipase C-beta and its downstream effectors.[provided by RefSeq, Feb 2009]

GNA15 Gene

guanine nucleotide binding protein (G protein), alpha 15 (Gq class)

GNA12 Gene

guanine nucleotide binding protein (G protein) alpha 12

GNA13 Gene

guanine nucleotide binding protein (G protein), alpha 13

GNA11 Gene

guanine nucleotide binding protein (G protein), alpha 11 (Gq class)

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]

LOC100270670 Gene

chloride channel, nucleotide-sensitive, 1A pseudogene

CLNS1AP1 Gene

chloride channel, nucleotide-sensitive, 1A pseudogene 1

GNG7 Gene

guanine nucleotide binding protein (G protein), gamma 7

GNG4 Gene

guanine nucleotide binding protein (G protein), gamma 4

GNG5 Gene

guanine nucleotide binding protein (G protein), gamma 5

G proteins are trimeric (alpha-beta-gamma) membrane-associated proteins that regulate flow of information from cell surface receptors to a variety of internal metabolic effectors. Interaction of a G protein with its activated receptor promotes exchange of GTP for GDP that is bound to the alpha subunit. The alpha-GTP complex dissociates from the beta-gamma heterodimer so that the subunits, in turn, may interact with and regulate effector molecules (Gilman, 1987 [PubMed 3113327]; summary by Ahmad et al., 1995) [PubMed 7606925].[supplied by OMIM, Nov 2010]

GNG2 Gene

guanine nucleotide binding protein (G protein), gamma 2

This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]

GNG3 Gene

guanine nucleotide binding protein (G protein), gamma 3

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]

GNG8 Gene

guanine nucleotide binding protein (G protein), gamma 8

CNBD2 Gene

cyclic nucleotide binding domain containing 2

CNBD1 Gene

cyclic nucleotide binding domain containing 1

ARFGEF1 Gene

ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]

ARFGEF2 Gene

ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]

HINT2P1 Gene

histidine triad nucleotide binding protein 2 pseudogene 1

RAPGEF4 Gene

Rap guanine nucleotide exchange factor (GEF) 4

ARHGEF9 Gene

Cdc42 guanine nucleotide exchange factor (GEF) 9

The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]

ARHGEF6 Gene

Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]

ARHGEF2 Gene

Rho/Rac guanine nucleotide exchange factor (GEF) 2

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]

SIL1 Gene

SIL1 nucleotide exchange factor

This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

GNAQP1 Gene

guanine nucleotide binding protein (G protein), q polypeptide pseudogene 1

LOC100422685 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene

GNB5 Gene

guanine nucleotide binding protein (G protein), beta 5

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

GNB4 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 4

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]

GNB1 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 1

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GNB3 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 3

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]

GNB2 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2

Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]

GNAI2P2 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 2

GNAI2P1 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 pseudogene 1

RASGRF1 Gene

Ras protein-specific guanine nucleotide-releasing factor 1

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]

RASGRF2 Gene

Ras protein-specific guanine nucleotide-releasing factor 2

RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]

LOC648044 Gene

guanine nucleotide binding protein (G protein), gamma 12-like

SLC25A6P3 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 3

LOC105369247 Gene

nicotinate-nucleotide pyrophosphorylase [carboxylating]-like

ARHGEF28 Gene

Rho guanine nucleotide exchange factor (GEF) 28

This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

ARHGEF25 Gene

Rho guanine nucleotide exchange factor (GEF) 25

Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

ARHGEF26 Gene

Rho guanine nucleotide exchange factor (GEF) 26

This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]

GNAQ Gene

guanine nucleotide binding protein (G protein), q polypeptide

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

GNAZ Gene

guanine nucleotide binding protein (G protein), alpha z polypeptide

The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]

GNAL Gene

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type

This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

NMNAT2 Gene

nicotinamide nucleotide adenylyltransferase 2

This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NMNAT3 Gene

nicotinamide nucleotide adenylyltransferase 3

This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

NMNAT1 Gene

nicotinamide nucleotide adenylyltransferase 1

This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]

RAPGEFL1 Gene

Rap guanine nucleotide exchange factor (GEF)-like 1

GNG10 Gene

guanine nucleotide binding protein (G protein), gamma 10

GNG11 Gene

guanine nucleotide binding protein (G protein), gamma 11

This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]

GNG12 Gene

guanine nucleotide binding protein (G protein), gamma 12

GNG13 Gene

guanine nucleotide binding protein (G protein), gamma 13

Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]

GNAO1 Gene

guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O

GNAT1 Gene

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

GNAT3 Gene

guanine nucleotide binding protein, alpha transducing 3

GNAT2 Gene

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]

RGL1 Gene

ral guanine nucleotide dissociation stimulator-like 1

RGL3 Gene

ral guanine nucleotide dissociation stimulator-like 3

RGL2 Gene

ral guanine nucleotide dissociation stimulator-like 2

RGL4 Gene

ral guanine nucleotide dissociation stimulator-like 4

LOC653698 Gene

solute carrier family 25 (pyrimidine nucleotide carrier), member 33 pseudogene

ARHGEF10L Gene

Rho guanine nucleotide exchange factor (GEF) 10-like

ARHGEF10L is a member of the RhoGEF family of guanine nucleotide exchange factors (GEFs) that activate Rho GTPases (Winkler et al., 2005 [PubMed 16112081]).[supplied by OMIM, Dec 2008]

ARHGEF10 Gene

Rho guanine nucleotide exchange factor (GEF) 10

This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

ARHGEF11 Gene

Rho guanine nucleotide exchange factor (GEF) 11

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ARHGEF12 Gene

Rho guanine nucleotide exchange factor (GEF) 12

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

ARHGEF15 Gene

Rho guanine nucleotide exchange factor (GEF) 15

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]

ARHGEF16 Gene

Rho guanine nucleotide exchange factor (GEF) 16

Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]

ARHGEF17 Gene

Rho guanine nucleotide exchange factor (GEF) 17

ARHGEF18 Gene

Rho/Rac guanine nucleotide exchange factor (GEF) 18

Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

ARHGEF19 Gene

Rho guanine nucleotide exchange factor (GEF) 19

Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]

GNL2P1 Gene

guanine nucleotide binding protein-like 2 (nucleolar) pseudogene 1

NNT Gene

nicotinamide nucleotide transhydrogenase

This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100422292 Gene

ral guanine nucleotide dissociation stimulator-like 4 pseudogene

LOC100422213 Gene

guanine nucleotide binding protein-like 3 (nucleolar) pseudogene

NOD1 Gene

nucleotide-binding oligomerization domain containing 1

This gene encodes a member of the NOD (nucleotide-binding oligomerization domain) family. This member is a cytosolic protein. It contains an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. This protein is an intracellular pattern-recognition receptor (PRR) that initiates inflammation in response to a subset of bacteria through the detection of bacterial diaminopimelic acid. Multiple alternatively spliced transcript variants differring in the 5' UTR have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Oct 2009]

NOD2 Gene

nucleotide-binding oligomerization domain containing 2

This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

GBF1 Gene

golgi brefeldin A resistant guanine nucleotide exchange factor 1

This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

CILP Gene

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]

GNL3 Gene

guanine nucleotide binding protein-like 3 (nucleolar)

The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

GNL2 Gene

guanine nucleotide binding protein-like 2 (nucleolar)

GNL1 Gene

guanine nucleotide binding protein-like 1

The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]

SLC25A5P5 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5

SLC25A5P6 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 6

LOC100289060 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene

ARHGEF7 Gene

Rho guanine nucleotide exchange factor (GEF) 7

Rho GTPases play a fundamental role in numerous cellular processes triggered by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. This protein can induce membrane ruffling. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

ARHGEF4 Gene

Rho guanine nucleotide exchange factor (GEF) 4

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]

ARHGEF5 Gene

Rho guanine nucleotide exchange factor (GEF) 5

Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]

ARHGEF3 Gene

Rho guanine nucleotide exchange factor (GEF) 3

Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ARHGEF1 Gene

Rho guanine nucleotide exchange factor (GEF) 1

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

ARHGEF40 Gene

Rho guanine nucleotide exchange factor (GEF) 40

This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]

CLNS1A Gene

chloride channel, nucleotide-sensitive, 1A

This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. [provided by RefSeq, Feb 2009]

LOC402192 Gene

chloride channel, nucleotide-sensitive, 1A pseudogene

SERGEF Gene

secretion regulating guanine nucleotide exchange factor

HINT1 Gene

histidine triad nucleotide binding protein 1

The protein encoded by this gene can hydrolyze substrates such as AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif, which is part of the loop that binds to the substrate. This gene has been found to be a tumor suppressing gene. Several transcript variants, but only one of them protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]

HINT2 Gene

histidine triad nucleotide binding protein 2

Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]

HINT3 Gene

histidine triad nucleotide binding protein 3

Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]

RALGDS Gene

ral guanine nucleotide dissociation stimulator

Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]

TRIO Gene

trio Rho guanine nucleotide exchange factor

LOC653503 Gene

guanine nucleotide binding protein (G protein), gamma 10 pseudogene

GNAI2 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2

The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

GNAI3 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3

Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]

GNAI1 Gene

guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1

Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

LOC102725117 Gene

rho guanine nucleotide exchange factor 5-like

LOC644110 Gene

hyperpolarization activated cyclic nucleotide gated potassium channel 2 pseudogene

NUBPL Gene

nucleotide binding protein-like

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

NUBP2 Gene

nucleotide binding protein 2

This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]

NUBP1 Gene

nucleotide binding protein 1

NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]

HCN1 Gene

hyperpolarization activated cyclic nucleotide gated potassium channel 1

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]

HCN3 Gene

hyperpolarization activated cyclic nucleotide gated potassium channel 3

This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

HCN2 Gene

hyperpolarization activated cyclic nucleotide gated potassium channel 2

Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous rhythmic activity in both heart and brain.[supplied by OMIM, Jul 2010]

HCN4 Gene

hyperpolarization activated cyclic nucleotide gated potassium channel 4

This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]

LOC100422559 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

ARHGEF33 Gene

Rho guanine nucleotide exchange factor (GEF) 33

ARHGEF38 Gene

Rho guanine nucleotide exchange factor (GEF) 38

ARHGEF39 Gene

Rho guanine nucleotide exchange factor (GEF) 39

LOC100422337 Gene

guanine nucleotide binding protein (G protein), alpha 13 pseudogene

PYROXD2 Gene

pyridine nucleotide-disulphide oxidoreductase domain 2

PYROXD1 Gene

pyridine nucleotide-disulphide oxidoreductase domain 1

CNGA1 Gene

cyclic nucleotide gated channel alpha 1

The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

CNGA2 Gene

cyclic nucleotide gated channel alpha 2

The protein encoded by this gene represents the alpha subunit of a cyclic nucleotide-gated olfactory channel. The encoded protein contains a carboxy-terminal leucine zipper that mediates channel formation. [provided by RefSeq, Jan 2010]

CNGA3 Gene

cyclic nucleotide gated channel alpha 3

This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CNGA4 Gene

cyclic nucleotide gated channel alpha 4

CNGA4 is a modulatory subunit of vertebrate cyclic nucleotide-gated membrane channels that transduce odorant signals (Munger et al., 2001 [PubMed 11739959]).[supplied by OMIM, Mar 2008]

LOC728424 Gene

hyperpolarization activated cyclic nucleotide gated potassium channel 2 pseudogene

LOC100421204 Gene

cyclic nucleotide gated channel alpha 1 pseudogene

SLC25A6P2 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 2

SLC25A6P1 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1

SLC25A6P6 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 6

SLC25A6P5 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 5

SLC25A6P4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 4

GNB1L Gene

guanine nucleotide binding protein (G protein), beta polypeptide 1-like

This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

NGEF Gene

neuronal guanine nucleotide exchange factor

RANGRF Gene

RAN guanine nucleotide release factor

This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

LOC100422561 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

LOC100422562 Gene

guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 pseudogene

SLC25A6 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013]

SLC25A5 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]

SLC25A4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]

ARHGEF35 Gene

Rho guanine nucleotide exchange factor (GEF) 35

CNP Gene

2',3'-cyclic nucleotide 3' phosphodiesterase

HINT1P2 Gene

histidine triad nucleotide binding protein 1 pseudogene 2

HINT1P1 Gene

histidine triad nucleotide binding protein 1 pseudogene 1

LOC100422300 Gene

pyridine nucleotide-disulphide oxidoreductase domain 1 pseudogene

GNGT2 Gene

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]

GNGT1 Gene

guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1

Heterotrimeric guanine nucleotide-binding proteins (G proteins) transduce extracellular signals received by transmembrane receptors to effector proteins. Transducin is a guanine nucleotide-binding protein found specifically in rod outer segments, where it mediates activation by rhodopsin of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase. Transducin is also referred to as GMPase. GNGT1 encodes the gamma subunit of transducin (Hurley et al., 1984 [PubMed 6438626]; Scherer et al., 1996 [PubMed 8661128]).[supplied by OMIM, Mar 2008]

LOC442042 Gene

polymerase (RNA) II (DNA directed) polypeptide D pseudogene

TDG Gene

thymine-DNA glycosylase

The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]

TARDBPP1 Gene

TAR DNA binding protein pseudogene 1

TARDBPP2 Gene

TAR DNA binding protein pseudogene 2

N6AMT1 Gene

N-6 adenine-specific DNA methyltransferase 1 (putative)

This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]

N6AMT2 Gene

N-6 adenine-specific DNA methyltransferase 2 (putative)

LOC102724184 Gene

DNA (cytosine-5)-methyltransferase 3-like

LOC646044 Gene

single stranded DNA binding protein 4 pseudogene

SSBP4 Gene

single stranded DNA binding protein 4

LOC100421620 Gene

polymerase (RNA) mitochondrial (DNA directed) pseudogene

LOC105377532 Gene

DNA dC->dU-editing enzyme APOBEC-3G-like

LOC100132698 Gene

single stranded DNA binding protein 4 pseudogene

TDP2 Gene

tyrosyl-DNA phosphodiesterase 2

This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]

POLR3GP2 Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 2

POLR3GP1 Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD) pseudogene 1

POLN Gene

polymerase (DNA directed) nu

This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]

POLR2CP Gene

polymerase (RNA) II (DNA directed) polypeptide C, pseudogene

CENPBD1 Gene

CENPB DNA-binding domains containing 1

DNTT Gene

DNA nucleotidylexotransferase

This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

PRIM1 Gene

primase, DNA, polypeptide 1 (49kDa)

The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]

PRIM2 Gene

primase, DNA, polypeptide 2 (58kDa)

This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]

LOC390250 Gene

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa pseudogene

MSANTD2P1 Gene

Myb/SANT-like DNA-binding domain containing 2 pseudogene 1

PRIMPOL Gene

primase and polymerase (DNA-directed)

TDP1 Gene

tyrosyl-DNA phosphodiesterase 1

The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same isoform. [provided by RefSeq, Jul 2008]

LOC101060521 Gene

DNA-directed RNA polymerase III subunit RPC5

POLR3F Gene

polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa

The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

POLR3G Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD)

POLR3D Gene

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa

This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]

POLR3E Gene

polymerase (RNA) III (DNA directed) polypeptide E (80kD)

POLR3B Gene

polymerase (RNA) III (DNA directed) polypeptide B

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

POLR3C Gene

polymerase (RNA) III (DNA directed) polypeptide C (62kD)

POLR3A Gene

polymerase (RNA) III (DNA directed) polypeptide A, 155kDa

The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

POLR3K Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa

This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

POLR3H Gene

polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)

DNMT1 Gene

DNA (cytosine-5-)-methyltransferase 1

DNA (cytosine-5-)-methyltransferase 1 has a role in the establishment and regulation of tissue-specific patterns of methylated cytosine residues. Aberrant methylation patterns are associated with certain human tumors and developmental abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

PRKDC Gene

protein kinase, DNA-activated, catalytic polypeptide

This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]

DSCC1 Gene

DNA replication and sister chromatid cohesion 1

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

LOC100130177 Gene

uracil-DNA glycosylase pseudogene

D6S2723E Gene

DNA segment on chromosome 6 (unique, pseudogene) 2723 expressed sequence

DNA2 Gene

DNA replication helicase/nuclease 2

This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

DNMT3AP1 Gene

DNA methyltransferase 3A pseudogene 1

LOC401002 Gene

single stranded DNA binding protein 3 pseudogene

LOC646674 Gene

single stranded DNA binding protein 4 pseudogene

LOC100996860 Gene

TAR DNA-binding protein 43 pseudogene

CDT1 Gene

chromatin licensing and DNA replication factor 1

The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]

POLD4 Gene

polymerase (DNA-directed), delta 4, accessory subunit

This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]

HELB Gene

helicase (DNA) B

This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. [provided by RefSeq, Mar 2012]

ZBP1 Gene

Z-DNA binding protein 1

This gene encodes a Z-DNA binding protein. The encoded protein plays a role in the innate immune response by binding to foreign DNA and inducing type-I interferon production. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

POLE3 Gene

polymerase (DNA directed), epsilon 3, accessory subunit

POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

AHDC1 Gene

AT hook, DNA binding motif, containing 1

This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]

LPSA Gene

Oncogene liposarcoma (DNA segment, single copy, expressed, probes

RFX8 Gene

RFX family member 8, lacking RFX DNA binding domain

LOC643387 Gene

TAR DNA binding protein pseudogene

LOC246724 Gene

DNA directed RNA polymerase II polypeptide J-related gene

LOC246725 Gene

DNA directed RNA polymerase II polypeptide J-related gene

LOC101060644 Gene

TAR DNA-binding protein 43 pseudogene

POLR3KP2 Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 2

POLR3KP1 Gene

polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa pseudogene 1

POLDIP3 Gene

polymerase (DNA-directed), delta interacting protein 3

This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

POLDIP2 Gene

polymerase (DNA-directed), delta interacting protein 2

This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

DFFA Gene

DNA fragmentation factor, 45kDa, alpha polypeptide

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

DFFB Gene

DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)

Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]

REV3L Gene

REV3-like, polymerase (DNA directed), zeta, catalytic subunit

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

WDHD1 Gene

WD repeat and HMG-box DNA binding protein 1

The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

LOC101930420 Gene

DNA primase large subunit-like

LIG4 Gene

ligase IV, DNA, ATP-dependent

The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]

LIG1 Gene

ligase I, DNA, ATP-dependent

This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

LIG3 Gene

ligase III, DNA, ATP-dependent

This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LOC100132723 Gene

single stranded DNA binding protein 4 pseudogene

LOC100129321 Gene

single stranded DNA binding protein 3 pseudogene

TDGP1 Gene

thymine-DNA glycosylase pseudogene 1

REV1 Gene

REV1, polymerase (DNA directed)

This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. Two alternatively spliced transcript variants that encode different proteins have been found. [provided by RefSeq, Jul 2008]

LOC100128540 Gene

TAR DNA-binding protein 43-like

ID2B Gene

inhibitor of DNA binding 2B, dominant negative helix-loop-helix protein (pseudogene)

RAD1 Gene

RAD1 checkpoint DNA exonuclease

This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009]

LOC101928945 Gene

uracil-DNA glycosylase pseudogene

PIF1 Gene

PIF1 5'-to-3' DNA helicase

This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]

POLR2KP1 Gene

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 1

TOP3BP1 Gene

topoisomerase (DNA) III beta pseudogene 1

This gene was predicted by automated computational analysis. It encodes a protein with similarity to human topoisomerase (DNA) III beta, which is thought to relax supercoiled DNA upon replication, transcription, and cell division. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

MSANTD4 Gene

Myb/SANT-like DNA-binding domain containing 4 with coiled-coils

MSANTD1 Gene

Myb/SANT-like DNA-binding domain containing 1

MSANTD2 Gene

Myb/SANT-like DNA-binding domain containing 2

MSANTD3 Gene

Myb/SANT-like DNA-binding domain containing 3

TARDBP Gene

TAR DNA binding protein

HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]

BKMA1 Gene

Banded krait minor satellite DNA-1

POLG Gene

polymerase (DNA directed), gamma

Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

POLE Gene

polymerase (DNA directed), epsilon, catalytic subunit

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

POLB Gene

polymerase (DNA directed), beta

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

POLM Gene

polymerase (DNA directed), mu

POLL Gene

polymerase (DNA directed), lambda

This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]

POLK Gene

polymerase (DNA directed) kappa

External and internal DNA-damaging agents continually threaten the integrity of genetic material in cells. Although a variety of repair mechanisms exist to remove the resulting lesions, some lesions escape repair and block the replication machinery. Members of the Y family of DNA polymerases, such as POLK, permit the continuity of the replication fork by allowing replication through such DNA lesions. Each Y family polymerase has a unique DNA-damage bypass and fidelity profile. POLK is specialized for the extension step of lesion bypass (summary by Lone et al., 2007 [PubMed 17317631]).[supplied by OMIM, Jan 2010]

POLI Gene

polymerase (DNA directed) iota

POLH Gene

polymerase (DNA directed), eta

This gene encodes a member of the Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

LOC100420848 Gene

Myb/SANT-like DNA-binding domain containing 3 pseudogene

POLE2 Gene

polymerase (DNA directed), epsilon 2, accessory subunit

POLE4 Gene

polymerase (DNA-directed), epsilon 4, accessory subunit

POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

TOP2B Gene

topoisomerase (DNA) II beta 180kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing of this gene results in two transcript variants; however, the second variant has not yet been fully described. [provided by RefSeq, Jul 2008]

TOP2A Gene

topoisomerase (DNA) II alpha 170kDa

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]

DFFBP1 Gene

DNA fragmentation factor, 40kDa, beta polypeptide pseudogene 1

HFM1 Gene

HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]

KLLN Gene

killin, p53-regulated DNA replication inhibitor

The protein encoded by this intronless gene is found in the nucleus, where it can inhibit DNA synthesis and promote S phase arrest coupled to apoptosis. The expression of this DNA binding protein is upregulated by transcription factor p53. [provided by RefSeq, Dec 2012]

CHD1L Gene

chromodomain helicase DNA binding protein 1-like

This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Several alternatively spliced transcripts variants have been described for this gene. [provided by RefSeq, Jan 2012]

CHD1 Gene

chromodomain helicase DNA binding protein 1

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]

CHD3 Gene

chromodomain helicase DNA binding protein 3

This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

CHD2 Gene

chromodomain helicase DNA binding protein 2

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

CHD5 Gene

chromodomain helicase DNA binding protein 5

This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]

CHD4 Gene

chromodomain helicase DNA binding protein 4

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

CHD7 Gene

chromodomain helicase DNA binding protein 7

This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. [provided by RefSeq, Jul 2008]

CHD6 Gene

chromodomain helicase DNA binding protein 6

This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]

CHD9 Gene

chromodomain helicase DNA binding protein 9

CHD8 Gene

chromodomain helicase DNA binding protein 8

This gene encodes a DNA helicase that functions as a transcription repressor by remodeling chromatin structure. It binds beta-catenin and negatively regulates Wnt signaling pathway, which plays a pivotal role in vertebrate early development and morphogenesis. Mice lacking this gene exhibit early embryonic death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

CENPBD1P1 Gene

CENPB DNA-binding domains containing 1 pseudogene 1

MPG Gene

N-methylpurine-DNA glycosylase

POLRMT Gene

polymerase (RNA) mitochondrial (DNA directed)

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]

MGMT Gene

O-6-methylguanine-DNA methyltransferase

GMNN Gene

geminin, DNA replication inhibitor

This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]

POLQ Gene

polymerase (DNA directed), theta

POLR3GL Gene

polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like

LOC100132659 Gene

single-stranded DNA binding protein 2 pseudogene

POLR2LP Gene

polymerase (RNA) II (DNA directed) polypeptide L pseudogene

OGG1 Gene

8-oxoguanine DNA glycosylase

This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]

TOP1P1 Gene

topoisomerase (DNA) I pseudogene 1

TOP1P2 Gene

topoisomerase (DNA) I pseudogene 2

DMAP1 Gene

DNA methyltransferase 1 associated protein 1

This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

SMUG1 Gene

single-strand-selective monofunctional uracil-DNA glycosylase 1

This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]

SON Gene

SON DNA binding protein

This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

LOC100419572 Gene

uracil-DNA glycosylase pseudogene

LOC100133127 Gene

geminin, DNA replication inhibitor pseudogene 1

POLA2 Gene

polymerase (DNA directed), alpha 2, accessory subunit

POLA1 Gene

polymerase (DNA directed), alpha 1, catalytic subunit

This gene encodes the catalytic subunit of DNA polymerase, which together with a regulatory and two primase subunits, forms the DNA polymerase alpha complex. The catalytic subunit plays an essential role in the initiation of DNA replication. [provided by RefSeq, Mar 2010]

POLR2KP2 Gene

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa pseudogene 2

POLR3DP1 Gene

polymerase (RNA) III (DNA directed) polypeptide D, 44kDa pseudogene 1

TOP1MT Gene

topoisomerase (DNA) I, mitochondrial

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

DNMT3B Gene

DNA (cytosine-5-)-methyltransferase 3 beta

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

DNMT3A Gene

DNA (cytosine-5-)-methyltransferase 3 alpha

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DNMT3L Gene

DNA (cytosine-5-)-methyltransferase 3-like

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

LOC105373057 Gene

DNA-directed RNA polymerase II subunit RPB1-like

LOC642897 Gene

N-6 adenine-specific DNA methyltransferase 1 (putative) pseudogene

UNG Gene

uracil-DNA glycosylase

This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]

KIN Gene

Kin17 DNA and RNA binding protein

The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

POLR2J4 Gene

polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene

POLR2J2 Gene

polymerase (RNA) II (DNA directed) polypeptide J2

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]

POLR2J3 Gene

polymerase (RNA) II (DNA directed) polypeptide J3

This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]

POLD2P1 Gene

polymerase (DNA directed), delta 2, accessory subunit pseudogene 1

POLR2E Gene

polymerase (RNA) II (DNA directed) polypeptide E, 25kDa

This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. [provided by RefSeq, Jul 2008]

POLR2D Gene

polymerase (RNA) II (DNA directed) polypeptide D

This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008]

POLR2G Gene

polymerase (RNA) II (DNA directed) polypeptide G

This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]

POLR2F Gene

polymerase (RNA) II (DNA directed) polypeptide F

This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

POLR2A Gene

polymerase (RNA) II (DNA directed) polypeptide A, 220kDa

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

POLR2C Gene

polymerase (RNA) II (DNA directed) polypeptide C, 33kDa

This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]

POLR2B Gene

polymerase (RNA) II (DNA directed) polypeptide B, 140kDa

This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

POLR2M Gene

polymerase (RNA) II (DNA directed) polypeptide M

This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]

POLR2L Gene

polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

POLR2I Gene

polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]

POLR2H Gene

polymerase (RNA) II (DNA directed) polypeptide H

The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

POLR2K Gene

polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa

This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]

POLR2J Gene

polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa

This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]

LOC196469 Gene

DNA dC->dU-editing enzyme APOBEC-3G-like

TOP3A Gene

topoisomerase (DNA) III alpha

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. [provided by RefSeq, Jul 2008]

TOP3B Gene

topoisomerase (DNA) III beta

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]

DMC1 Gene

DNA meiotic recombinase 1

This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

SSBP1 Gene

single-stranded DNA binding protein 1, mitochondrial

SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

SSBP3 Gene

single stranded DNA binding protein 3

SSBP2 Gene

single-stranded DNA binding protein 2

SSBP2 is a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

LOC100422453 Gene

polymerase (DNA directed), delta 1, catalytic subunit 125kDa pseudogene

TOPBP1 Gene

topoisomerase (DNA) II binding protein 1

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands. [provided by RefSeq, Jul 2008]

POLD1 Gene

polymerase (DNA directed), delta 1, catalytic subunit

This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]

POLD2 Gene

polymerase (DNA directed), delta 2, accessory subunit

This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Mar 2012]

POLD3 Gene

polymerase (DNA-directed), delta 3, accessory subunit

This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]

ID4 Gene

inhibitor of DNA binding 4, dominant negative helix-loop-helix protein

This gene encodes a member of the inhibitor of DNA binding (ID) protein family. These proteins are basic helix-loop-helix transcription factors which can act as tumor suppressors but lack DNA binding activity. Consequently, the activity of the encoded protein depends on the protein binding partner. [provided by RefSeq, Dec 2011]

ID2 Gene

inhibitor of DNA binding 2, dominant negative helix-loop-helix protein

The protein encoded by this gene belongs to the inhibitor of DNA binding family, members of which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members of the inhibitor of DNA binding family inhibit the functions of basic helix-loop-helix transcription factors in a dominant-negative manner by suppressing their heterodimerization partners through the HLH domains. This protein may play a role in negatively regulating cell differentiation. A pseudogene of this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]

ID3 Gene

inhibitor of DNA binding 3, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]

ID1 Gene

inhibitor of DNA binding 1, dominant negative helix-loop-helix protein

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC400174 Gene

single stranded DNA binding protein 4 pseudogene

GCFC2 Gene

GC-rich sequence DNA-binding factor 2

The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]

LOC100420880 Gene

primase, DNA, polypeptide 1 (49kDa) pseudogene

POLRMTP1 Gene

polymerase (RNA) mitochondrial (DNA directed) pseudogene 1

LOC100133137 Gene

geminin, DNA replication inhibitor pseudogene 2

TOP1 Gene

topoisomerase (DNA) I

This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]

PRIM2B Gene

primase, DNA, polypeptide 2 (58kDa) pseudogene

LOC100421824 Gene

polymerase (DNA directed), epsilon 2, accessory subunit pseudogene

UNGP1 Gene

uracil-DNA glycosylase pseudogene 1

UNGP3 Gene

uracil-DNA glycosylase pseudogene 3

UNGP2 Gene

uracil-DNA glycosylase pseudogene 2

DNCM Gene

DNA associated with cytoplasmic membrane

SMUG1P1 Gene

single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1

LOC100130321 Gene

DNA fragmentation factor, 45kDa, alpha polypeptide pseudogene

POLG2 Gene

polymerase (DNA directed), gamma 2, accessory subunit

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]

nucleotide-excision repair, dna damage removal Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna damage removal biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, dna damage recognition Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna damage recognition biological process from the curated GO Biological Process Annotations dataset.

pyrimidine dimer repair by nucleotide-excision repair Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine dimer repair by nucleotide-excision repair biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair involved in interstrand cross-link repair Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair involved in interstrand cross-link repair biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, dna incision, 3'-to lesion Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna incision, 3'-to lesion biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, dna incision Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna incision biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, dna duplex unwinding Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna duplex unwinding biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, dna incision, 5'-to lesion Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna incision, 5'-to lesion biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, dna gap filling Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, dna gap filling biological process from the curated GO Biological Process Annotations dataset.

uv-damage excision repair Gene Set

From GO Biological Process Annotations

genes participating in the uv-damage excision repair biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair factor 1 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nucleotide-excision repair factor 1 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nucleotide-excision repair complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nucleotide-excision repair complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nucleotide-excision repair factor 3 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nucleotide-excision repair factor 3 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nucleotide-excision repair factor 4 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nucleotide-excision repair factor 4 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nucleotide-excision repair factor 2 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nucleotide-excision repair factor 2 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nucleotide-excision repair factor 1 complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nucleotide-excision repair factor 1 complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nucleotide-excision repair complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nucleotide-excision repair complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nucleotide excision repair Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nucleotide excision repair in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease reduced lung cancer risk and a modulating effect on nucleotide excision repair capacity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

transcription-coupled nucleotide-excision repair Gene Set

From GO Biological Process Annotations

genes participating in the transcription-coupled nucleotide-excision repair biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide-excision repair Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide-excision repair biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair, preincision complex assembly Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair, preincision complex assembly biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-excision repair biological process from the curated GO Biological Process Annotations dataset.

nucleotide-excision repair factor 1 complex Gene Set

From GO Cellular Component Annotations

proteins localized to the nucleotide-excision repair factor 1 complex cellular component from the curated GO Cellular Component Annotations dataset.

nucleotide-excision repair complex Gene Set

From GO Cellular Component Annotations

proteins localized to the nucleotide-excision repair complex cellular component from the curated GO Cellular Component Annotations dataset.

Nucleotide Excision Repair Gene Set

From Reactome Pathways

proteins participating in the Nucleotide Excision Repair pathway from the Reactome Pathways dataset.

dna damage response, detection of dna damage Gene Set

From GO Biological Process Annotations

genes participating in the dna damage response, detection of dna damage biological process from the curated GO Biological Process Annotations dataset.

base-excision repair, dna ligation Gene Set

From GO Biological Process Annotations

genes participating in the base-excision repair, dna ligation biological process from the curated GO Biological Process Annotations dataset.

Helix-turn-helix, base-excision DNA repair, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Helix-turn-helix, base-excision DNA repair, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

defective dna repair after ultraviolet radiation damage Gene Set

From HPO Gene-Disease Associations

genes associated with the defective dna repair after ultraviolet radiation damage phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Telomere-length maintenance and DNA damage repair Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Telomere-length maintenance and DNA damage repair protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Base-free sugar-phosphate removal via the single-nucleotide replacement pathway Gene Set

From Reactome Pathways

proteins participating in the Base-free sugar-phosphate removal via the single-nucleotide replacement pathway pathway from the Reactome Pathways dataset.

base-excision repair, ap site formation Gene Set

From GO Biological Process Annotations

genes participating in the base-excision repair, ap site formation biological process from the curated GO Biological Process Annotations dataset.

base-excision repair, gap-filling Gene Set

From GO Biological Process Annotations

genes participating in the base-excision repair, gap-filling biological process from the curated GO Biological Process Annotations dataset.

base-excision repair Gene Set

From GO Biological Process Annotations

genes participating in the base-excision repair biological process from the curated GO Biological Process Annotations dataset.

UV excision repair protein Rad23 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the UV excision repair protein Rad23 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal base-excision repair Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal base-excision repair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Base-Excision Repair, AP Site Formation Gene Set

From Reactome Pathways

proteins participating in the Base-Excision Repair, AP Site Formation pathway from the Reactome Pathways dataset.

Base Excision Repair Gene Set

From Reactome Pathways

proteins participating in the Base Excision Repair pathway from the Reactome Pathways dataset.

removal of rna primer involved in mitotic dna replication Gene Set

From GO Biological Process Annotations

genes participating in the removal of rna primer involved in mitotic dna replication biological process from the curated GO Biological Process Annotations dataset.

dna replication, removal of rna primer Gene Set

From GO Biological Process Annotations

genes participating in the dna replication, removal of rna primer biological process from the curated GO Biological Process Annotations dataset.

Removal of DNA patch containing abasic residue Gene Set

From Reactome Pathways

proteins participating in the Removal of DNA patch containing abasic residue pathway from the Reactome Pathways dataset.

dna synthesis involved in dna repair Gene Set

From GO Biological Process Annotations

genes participating in the dna synthesis involved in dna repair biological process from the curated GO Biological Process Annotations dataset.

dna dealkylation involved in dna repair Gene Set

From GO Biological Process Annotations

genes participating in the dna dealkylation involved in dna repair biological process from the curated GO Biological Process Annotations dataset.

dna ligation involved in dna repair Gene Set

From GO Biological Process Annotations

genes participating in the dna ligation involved in dna repair biological process from the curated GO Biological Process Annotations dataset.

DNA helicase (DNA repair), Rad3 type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA helicase (DNA repair), Rad3 type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

dna excision Gene Set

From GO Biological Process Annotations

genes participating in the dna excision biological process from the curated GO Biological Process Annotations dataset.

deficient excision of uv-induced pyrimidine dimers in dna Gene Set

From HPO Gene-Disease Associations

genes associated with the deficient excision of uv-induced pyrimidine dimers in dna phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

DNA nucleotidylexotransferase (TdT) / DNA-directed DNA/RNA polymerase mu Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA nucleotidylexotransferase (TdT) / DNA-directed DNA/RNA polymerase mu protein domain from the InterPro Predicted Protein Domain Annotations dataset.

removal Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term removal in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

trna 5'-leader removal Gene Set

From GO Biological Process Annotations

genes participating in the trna 5'-leader removal biological process from the curated GO Biological Process Annotations dataset.

regulation of removal of superoxide radicals Gene Set

From GO Biological Process Annotations

genes participating in the regulation of removal of superoxide radicals biological process from the curated GO Biological Process Annotations dataset.

negative regulation of protein modification by small protein conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

removal of superoxide radicals Gene Set

From GO Biological Process Annotations

genes participating in the removal of superoxide radicals biological process from the curated GO Biological Process Annotations dataset.

positive regulation of protein modification by small protein conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

regulation of protein modification by small protein conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the regulation of protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

protein modification by small protein removal Gene Set

From GO Biological Process Annotations

genes participating in the protein modification by small protein removal biological process from the curated GO Biological Process Annotations dataset.

protein initiator methionine removal Gene Set

From GO Biological Process Annotations

genes participating in the protein initiator methionine removal biological process from the curated GO Biological Process Annotations dataset.

protein modification by small protein conjugation or removal Gene Set

From GO Biological Process Annotations

genes participating in the protein modification by small protein conjugation or removal biological process from the curated GO Biological Process Annotations dataset.

glutamate removal from folates Gene Set

From HumanCyc Pathways

proteins participating in the glutamate removal from folates pathway from the HumanCyc Pathways dataset.

Removal of licensing factors from origins Gene Set

From Reactome Pathways

proteins participating in the Removal of licensing factors from origins pathway from the Reactome Pathways dataset.

Orc1 removal from chromatin Gene Set

From Reactome Pathways

proteins participating in the Orc1 removal from chromatin pathway from the Reactome Pathways dataset.

Removal of aminoterminal propeptides from gamma-carboxylated proteins Gene Set

From Reactome Pathways

proteins participating in the Removal of aminoterminal propeptides from gamma-carboxylated proteins pathway from the Reactome Pathways dataset.

CDK-mediated phosphorylation and removal of Cdc6 Gene Set

From Reactome Pathways

proteins participating in the CDK-mediated phosphorylation and removal of Cdc6 pathway from the Reactome Pathways dataset.

Removal of the Flap Intermediate Gene Set

From Reactome Pathways

proteins participating in the Removal of the Flap Intermediate pathway from the Reactome Pathways dataset.

Removal of the Flap Intermediate from the C-strand Gene Set

From Reactome Pathways

proteins participating in the Removal of the Flap Intermediate from the C-strand pathway from the Reactome Pathways dataset.

cdc25 and chk1 regulatory pathway in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the cdc25 and chk1 regulatory pathway in response to dna damage pathway from the Biocarta Pathways dataset.

apoptotic signaling in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the apoptotic signaling in response to dna damage pathway from the Biocarta Pathways dataset.

rb tumor suppressor/checkpoint signaling in response to dna damage Gene Set

From Biocarta Pathways

proteins participating in the rb tumor suppressor/checkpoint signaling in response to dna damage pathway from the Biocarta Pathways dataset.

PTIP-DNA damage response complex Gene Set

From CORUM Protein Complexes

proteins in the PTIP-DNA damage response complex protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-BACH1-DNA damage complex II Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BACH1-DNA damage complex II protein complex from the CORUM Protein Complexes dataset.

Bcl-xL-p53-PUMA complex, DNA damage induced Gene Set

From CORUM Protein Complexes

proteins in the Bcl-xL-p53-PUMA complex, DNA damage induced protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-BRCA2-DNA damage complex III Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BRCA2-DNA damage complex III protein complex from the CORUM Protein Complexes dataset.

BRCA1-BARD1-BACH1-DNA damage complex I Gene Set

From CORUM Protein Complexes

proteins in the BRCA1-BARD1-BACH1-DNA damage complex I protein complex from the CORUM Protein Complexes dataset.

p53-Bcl-xL complex, DNA-damage induced Gene Set

From CORUM Protein Complexes

proteins in the p53-Bcl-xL complex, DNA-damage induced protein complex from the CORUM Protein Complexes dataset.

PUMA-Bcl-xL complex, DNA-damage induced Gene Set

From CORUM Protein Complexes

proteins in the PUMA-Bcl-xL complex, DNA-damage induced protein complex from the CORUM Protein Complexes dataset.

colonic neoplasms; dna damage; microsatellite instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colonic neoplasms; dna damage; microsatellite instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

colorectal neoplasms; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease colorectal neoplasms; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

crohn disease; crohn's disease; dna damage; genomic instability Gene Set

From GAD Gene-Disease Associations

genes associated with the disease crohn disease; crohn's disease; dna damage; genomic instability in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; head and neck neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; head and neck neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cell transformation, neoplastic; dna damage; lung neoplasms; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cell transformation, neoplastic; dna damage; lung neoplasms; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; ehlers-danlos syndrome; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; ehlers-danlos syndrome; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; infertility, male; varicocele Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; infertility, male; varicocele in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; chromosome breakage; dna damage; mammary neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; chromosome breakage; dna damage; mammary neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; dna damage; mammary neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; dna damage; mammary neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cystic fibrosis; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cystic fibrosis; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

choline deficiency; dna damage; folic acid deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease choline deficiency; dna damage; folic acid deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; helicobacter infections; precancerous conditions; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; helicobacter infections; precancerous conditions; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; glaucoma, open-angle; mitochondrial diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; glaucoma, open-angle; mitochondrial diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

angiomyolipoma; dna damage; kidney neoplasms; tuberous sclerosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease angiomyolipoma; dna damage; kidney neoplasms; tuberous sclerosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; infertility, male Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; infertility, male in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; leukemia, lymphocytic, chronic; leukemia, lymphocytic, chronic, b-cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; leukemia, lymphocytic, chronic; leukemia, lymphocytic, chronic, b-cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; myocardial infarction Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; myocardial infarction in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome breakage; dna damage; myelodysplastic syndromes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome breakage; dna damage; myelodysplastic syndromes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, papillary; dna damage; neoplasms, radiation-induced; thyroid neoplasm; thyroid neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, papillary; dna damage; neoplasms, radiation-induced; thyroid neoplasm; thyroid neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, pancreatic ductal; dna damage; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, pancreatic ductal; dna damage; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; melanoma; skin neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; melanoma; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage, oxidative Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage, oxidative in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; micronuclei, chromosome-defective Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; micronuclei, chromosome-defective in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma; dna damage; nasopharyngeal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma; dna damage; nasopharyngeal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; lung neoplasms; micronuclei, chromosome-defective; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; leukemia, lymphocytic, chronic, b-cell Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; leukemia, lymphocytic, chronic, b-cell in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, basal cell; carcinoma, squamous cell; dna damage; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, basal cell; carcinoma, squamous cell; dna damage; skin basal cell carcinoma; skin neoplasms; squamous cell carcinoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; lung neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; lung neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

birth weight; chromosome aberrations; chromosome abnormality; dna damage; tobacco use disorder Gene Set

From GAD Gene-Disease Associations

genes associated with the disease birth weight; chromosome aberrations; chromosome abnormality; dna damage; tobacco use disorder in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; neoplasms, glandular and epithelial; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; neoplasms, glandular and epithelial; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; embryo loss; hyperhomocysteinemia; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; embryo loss; hyperhomocysteinemia; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; neoplasms, second primary; precursor b-cell lymphoblastic leukemia-lymphoma; precursor t-cell lymphoblastic leukemia-lymphoma; recurrence Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; neoplasms, second primary; precursor b-cell lymphoblastic leukemia-lymphoma; precursor t-cell lymphoblastic leukemia-lymphoma; recurrence in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; melanoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; melanoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; neoplasms; skin diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; neoplasms; skin diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; dna damage; ovarian neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; dna damage; ovarian neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage associated with exposure to air pollution Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage associated with exposure to air pollution in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; endometriosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; endometriosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; macular degeneration Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; macular degeneration in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

breast neoplasms; dna damage; lung neoplasms; mammary neoplasms; neoplasm of lung ; skin neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease breast neoplasms; dna damage; lung neoplasms; mammary neoplasms; neoplasm of lung ; skin neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

arteriosclerosis; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease arteriosclerosis; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atrophy; dna damage; gastritis, atrophic; metaplasia; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atrophy; dna damage; gastritis, atrophic; metaplasia; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; lung neoplasms; neoplasm of lung Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; lung neoplasms; neoplasm of lung in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; gastritis, atrophic; helicobacter infections; stomach neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; gastritis, atrophic; helicobacter infections; stomach neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carotid artery diseases; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carotid artery diseases; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

agricultural workers' diseases; dna damage; substance-related disorders Gene Set

From GAD Gene-Disease Associations

genes associated with the disease agricultural workers' diseases; dna damage; substance-related disorders in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; precursor cell lymphoblastic leukemia-lymphoma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; precursor cell lymphoblastic leukemia-lymphoma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; kidney failure, chronic Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; kidney failure, chronic in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; radiation injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; radiation injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cockayne syndrome; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cockayne syndrome; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular diseases; diabetes mellitus; diabetes mellitus, type 2; diabetic angiopathies; dna damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular diseases; diabetes mellitus; diabetes mellitus, type 2; diabetic angiopathies; dna damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

atherosclerosis; dna damage; hypertension; kidney diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atherosclerosis; dna damage; hypertension; kidney diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing; dna damage; Gene Set

From GAD Gene-Disease Associations

genes associated with the disease bile duct neoplasms; cholangiocarcinoma; cholangitis, sclerosing; dna damage; in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chromosome aberrations; chromosome abnormality; dna damage; neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chromosome aberrations; chromosome abnormality; dna damage; neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage; nasopharyngeal neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage; nasopharyngeal neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

adenocarcinoma; dna damage; pancreatic neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease adenocarcinoma; dna damage; pancreatic neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna damage, biomarkers of Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna damage, biomarkers of in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carcinoma, hepatocellular; dna damage; liver neoplasms Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carcinoma, hepatocellular; dna damage; liver neoplasms in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

signal transduction in response to dna damage Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction in response to dna damage biological process from the curated GO Biological Process Annotations dataset.

signal transduction involved in dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction involved in dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

dna damage response, signal transduction by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the dna damage response, signal transduction by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

regulation of dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

response to dna damage checkpoint signaling Gene Set

From GO Biological Process Annotations

genes participating in the response to dna damage checkpoint signaling biological process from the curated GO Biological Process Annotations dataset.

mitotic g2 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the mitotic g2 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

negative regulation of dna damage response, signal transduction by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of dna damage response, signal transduction by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

intra-s dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the intra-s dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

cellular response to dna damage stimulus Gene Set

From GO Biological Process Annotations

genes participating in the cellular response to dna damage stimulus biological process from the curated GO Biological Process Annotations dataset.

intracellular signal transduction involved in g1 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the intracellular signal transduction involved in g1 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

negative regulation of dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

signal transduction involved in mitotic dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction involved in mitotic dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

dna damage induced protein phosphorylation Gene Set

From GO Biological Process Annotations

genes participating in the dna damage induced protein phosphorylation biological process from the curated GO Biological Process Annotations dataset.

regulation of intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the regulation of intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

regulation of dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator biological process from the curated GO Biological Process Annotations dataset.

signal transduction involved in intra-s dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction involved in intra-s dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

negative regulation of response to dna damage stimulus Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of response to dna damage stimulus biological process from the curated GO Biological Process Annotations dataset.

telomere maintenance in response to dna damage Gene Set

From GO Biological Process Annotations

genes participating in the telomere maintenance in response to dna damage biological process from the curated GO Biological Process Annotations dataset.

dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

mitotic dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the mitotic dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

signal transduction involved in g2 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction involved in g2 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

positive regulation of response to dna damage stimulus Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of response to dna damage stimulus biological process from the curated GO Biological Process Annotations dataset.

dna damage response, signal transduction resulting in transcription Gene Set

From GO Biological Process Annotations

genes participating in the dna damage response, signal transduction resulting in transcription biological process from the curated GO Biological Process Annotations dataset.

response to intra-s dna damage checkpoint signaling Gene Set

From GO Biological Process Annotations

genes participating in the response to intra-s dna damage checkpoint signaling biological process from the curated GO Biological Process Annotations dataset.

g2 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the g2 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

regulation of intrinsic apoptotic signaling pathway in response to dna damage Gene Set

From GO Biological Process Annotations

genes participating in the regulation of intrinsic apoptotic signaling pathway in response to dna damage biological process from the curated GO Biological Process Annotations dataset.

response to g1 dna damage checkpoint signaling Gene Set

From GO Biological Process Annotations

genes participating in the response to g1 dna damage checkpoint signaling biological process from the curated GO Biological Process Annotations dataset.

dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator biological process from the curated GO Biological Process Annotations dataset.

negative regulation of transcription from rna polymerase ii promoter in response to uv-induced dna damage Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of transcription from rna polymerase ii promoter in response to uv-induced dna damage biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dna damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator biological process from the curated GO Biological Process Annotations dataset.

negative regulation of intrinsic apoptotic signaling pathway in response to dna damage Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of intrinsic apoptotic signaling pathway in response to dna damage biological process from the curated GO Biological Process Annotations dataset.

regulation of transcription from rna polymerase ii promoter in response to uv-induced dna damage Gene Set

From GO Biological Process Annotations

genes participating in the regulation of transcription from rna polymerase ii promoter in response to uv-induced dna damage biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dna damage response, signal transduction by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dna damage response, signal transduction by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

signal transduction involved in mitotic g1 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction involved in mitotic g1 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

signal transduction involved in mitotic g2 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the signal transduction involved in mitotic g2 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

mitotic g1 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the mitotic g1 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

dna damage response, signal transduction by p53 class mediator resulting in cell cycle arrest Gene Set

From GO Biological Process Annotations

genes participating in the dna damage response, signal transduction by p53 class mediator resulting in cell cycle arrest biological process from the curated GO Biological Process Annotations dataset.

g1 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the g1 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

positive regulation of intrinsic apoptotic signaling pathway in response to dna damage Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of intrinsic apoptotic signaling pathway in response to dna damage biological process from the curated GO Biological Process Annotations dataset.

intrinsic apoptotic signaling pathway in response to dna damage Gene Set

From GO Biological Process Annotations

genes participating in the intrinsic apoptotic signaling pathway in response to dna damage biological process from the curated GO Biological Process Annotations dataset.

regulation of response to dna damage stimulus Gene Set

From GO Biological Process Annotations

genes participating in the regulation of response to dna damage stimulus biological process from the curated GO Biological Process Annotations dataset.

intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

positive regulation of intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

regulation of signal transduction involved in mitotic g2 dna damage checkpoint Gene Set

From GO Biological Process Annotations

genes participating in the regulation of signal transduction involved in mitotic g2 dna damage checkpoint biological process from the curated GO Biological Process Annotations dataset.

negative regulation of intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of intrinsic apoptotic signaling pathway in response to dna damage by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

regulation of dna damage response, signal transduction by p53 class mediator Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dna damage response, signal transduction by p53 class mediator biological process from the curated GO Biological Process Annotations dataset.

DNA Damage Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the DNA Damage phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Growth arrest and DNA damage-inducible protein GADD45 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Growth arrest and DNA damage-inducible protein GADD45 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA damage-inducible transcript 3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA damage-inducible transcript 3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Growth arrest/ DNA-damage-inducible protein-interacting protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Growth arrest/ DNA-damage-inducible protein-interacting protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

G2/M DNA damage checkpoint Gene Set

From Reactome Pathways

proteins participating in the G2/M DNA damage checkpoint pathway from the Reactome Pathways dataset.

p53-Independent G1/S DNA damage checkpoint Gene Set

From Reactome Pathways

proteins participating in the p53-Independent G1/S DNA damage checkpoint pathway from the Reactome Pathways dataset.

p53-Independent DNA Damage Response Gene Set

From Reactome Pathways

proteins participating in the p53-Independent DNA Damage Response pathway from the Reactome Pathways dataset.

DNA Damage/Telomere Stress Induced Senescence Gene Set

From Reactome Pathways

proteins participating in the DNA Damage/Telomere Stress Induced Senescence pathway from the Reactome Pathways dataset.

G1/S DNA Damage Checkpoints Gene Set

From Reactome Pathways

proteins participating in the G1/S DNA Damage Checkpoints pathway from the Reactome Pathways dataset.

p53-Dependent G1 DNA Damage Response Gene Set

From Reactome Pathways

proteins participating in the p53-Dependent G1 DNA Damage Response pathway from the Reactome Pathways dataset.

p53-Dependent G1/S DNA damage checkpoint Gene Set

From Reactome Pathways

proteins participating in the p53-Dependent G1/S DNA damage checkpoint pathway from the Reactome Pathways dataset.

DNA Damage Recognition in GG-NER Gene Set

From Reactome Pathways

proteins participating in the DNA Damage Recognition in GG-NER pathway from the Reactome Pathways dataset.

Reversal of Alkylation Damage By DNA Dioxygenases Gene Set

From Reactome Pathways

proteins participating in the Reversal of Alkylation Damage By DNA Dioxygenases pathway from the Reactome Pathways dataset.

DNA Damage Reversal Gene Set

From Reactome Pathways

proteins participating in the DNA Damage Reversal pathway from the Reactome Pathways dataset.

DNA Damage Bypass Gene Set

From Reactome Pathways

proteins participating in the DNA Damage Bypass pathway from the Reactome Pathways dataset.

miRNAs involved in DNA damage response(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the miRNAs involved in DNA damage response(Homo sapiens) pathway from the Wikipathways Pathways dataset.

miRNA Regulation of DNA Damage Response(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the miRNA Regulation of DNA Damage Response(Homo sapiens) pathway from the Wikipathways Pathways dataset.

miRNA regulation of DNA Damage Response(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the miRNA regulation of DNA Damage Response(Mus musculus) pathway from the Wikipathways Pathways dataset.

DNA Damage Response(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the DNA Damage Response(Homo sapiens) pathway from the Wikipathways Pathways dataset.

DNA Damage Response (only ATM dependent)(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the DNA Damage Response (only ATM dependent)(Homo sapiens) pathway from the Wikipathways Pathways dataset.

dna repair complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dna repair complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dna repair complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dna repair complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

DNA repair complex NEIL2-PNK-Pol(beta)-LigIII(alpha)-XRCC1 Gene Set

From CORUM Protein Complexes

proteins in the DNA repair complex NEIL2-PNK-Pol(beta)-LigIII(alpha)-XRCC1 protein complex from the CORUM Protein Complexes dataset.

MSH2-MLH1-PMS2 DNA-repair initiation complex Gene Set

From CORUM Protein Complexes

proteins in the MSH2-MLH1-PMS2 DNA-repair initiation complex protein complex from the CORUM Protein Complexes dataset.

DNA repair complex NEIL1-PNK-Pol(beta)-LigIII(alpha)-XRCC1 Gene Set

From CORUM Protein Complexes

proteins in the DNA repair complex NEIL1-PNK-Pol(beta)-LigIII(alpha)-XRCC1 protein complex from the CORUM Protein Complexes dataset.

MSH2-MLH1-PMS2-PCNA DNA-repair initiation complex Gene Set

From CORUM Protein Complexes

proteins in the MSH2-MLH1-PMS2-PCNA DNA-repair initiation complex protein complex from the CORUM Protein Complexes dataset.

DNA Repair-Deficiency Disorders Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease DNA Repair-Deficiency Disorders from the curated CTD Gene-Disease Associations dataset.

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT from the curated CTD Gene-Disease Associations dataset.

genomic instability; dna repair Gene Set

From GAD Gene-Disease Associations

genes associated with the disease genomic instability; dna repair in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna repair capacity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease dna repair capacity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

dna double-strand break processing involved in repair via single-strand annealing Gene Set

From GO Biological Process Annotations

genes participating in the dna double-strand break processing involved in repair via single-strand annealing biological process from the curated GO Biological Process Annotations dataset.

negative regulation of dna repair Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of dna repair biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dna repair Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dna repair biological process from the curated GO Biological Process Annotations dataset.

meiotic dna repair synthesis Gene Set

From GO Biological Process Annotations

genes participating in the meiotic dna repair synthesis biological process from the curated GO Biological Process Annotations dataset.

dna repair Gene Set

From GO Biological Process Annotations

genes participating in the dna repair biological process from the curated GO Biological Process Annotations dataset.

mitochondrial dna repair Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial dna repair biological process from the curated GO Biological Process Annotations dataset.

regulation of dna repair Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dna repair biological process from the curated GO Biological Process Annotations dataset.

dna repair complex Gene Set

From GO Cellular Component Annotations

proteins localized to the dna repair complex cellular component from the curated GO Cellular Component Annotations dataset.

Lung Cancer (DNA repair capacity) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Lung Cancer (DNA repair capacity) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

abnormality of dna repair Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the abnormality of dna repair phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

abnormality of dna repair Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of dna repair phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

DNA Repair-Deficiency Disorders Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the DNA Repair-Deficiency Disorders phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

DNA repair protein Rad50, eukaryotes Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein Rad50, eukaryotes protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA double-strand break repair and VJ recombination XRCC4, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA double-strand break repair and VJ recombination XRCC4, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS-homologue MSH6 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS-homologue MSH6 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-repair protein, UmuC-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-repair protein, UmuC-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS, core Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS, core protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS-like, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS-like, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein Mlh3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein Mlh3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alkylated DNA repair protein AlkB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alkylated DNA repair protein AlkB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA recombination and repair protein RecA-like, ATP-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA recombination and repair protein RecA-like, ATP-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein Mlh1/HexB Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein Mlh1/HexB protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Alkylated DNA repair protein AlkB, homologue 8, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Alkylated DNA repair protein AlkB, homologue 8, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein Pms1/Pms2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein Pms1/Pms2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein Mre11 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein Mre11 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair Rad51/transcription factor NusA, alpha-helical Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair Rad51/transcription factor NusA, alpha-helical protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein Rad4, subgroup Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein Rad4, subgroup protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS, clamp Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS, clamp protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein rad10 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein rad10 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein Rad4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein Rad4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair Nbs1, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair Nbs1, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein XRCC4 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein XRCC4 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Exosome-associated factor Rrp47/DNA strand repair C1D Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Exosome-associated factor Rrp47/DNA strand repair C1D protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair metallo-beta-lactamase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair metallo-beta-lactamase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein, Swi5 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein, Swi5 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS, connector domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS, connector domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein family Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein family protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein, Rev1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein, Rev1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-repair protein Xrcc1, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-repair protein Xrcc1, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein XRCC4, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein XRCC4, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-repair protein, UmuC-like, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-repair protein, UmuC-like, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS, N-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA recombination and repair protein, RecA-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA recombination and repair protein, RecA-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA recombination and repair protein Rad51, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA recombination and repair protein Rad51, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA recombination and repair protein RecA, monomer-monomer interface Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA recombination and repair protein RecA, monomer-monomer interface protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein Rad52/59/22 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein Rad52/59/22 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA recombination/repair protein Rad51 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA recombination/repair protein Rad51 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA recombination/repair protein Rad52 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA recombination/repair protein Rad52 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair protein RadA Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair protein RadA protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair MutS Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair MutS protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA repair nuclease, XPF-type/Helicase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA repair nuclease, XPF-type/Helicase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein MutS, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein MutS, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA mismatch repair protein, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA mismatch repair protein, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal double-strand dna break repair Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal double-strand dna break repair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal dna repair Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal dna repair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal single-strand dna break repair Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal single-strand dna break repair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

natural killer cell and glucocorticoid deficiency with dna repair defect Gene Set

From OMIM Gene-Disease Associations

genes associated with the natural killer cell and glucocorticoid deficiency with dna repair defect phenotype from the curated OMIM Gene-Disease Associations dataset.

Gap-filling DNA repair synthesis and ligation in GG-NER Gene Set

From Reactome Pathways

proteins participating in the Gap-filling DNA repair synthesis and ligation in GG-NER pathway from the Reactome Pathways dataset.

Repair synthesis for gap-filling by DNA polymerase in TC-NER Gene Set

From Reactome Pathways

proteins participating in the Repair synthesis for gap-filling by DNA polymerase in TC-NER pathway from the Reactome Pathways dataset.

DNA Repair Gene Set

From Reactome Pathways

proteins participating in the DNA Repair pathway from the Reactome Pathways dataset.

Gap-filling DNA repair synthesis and ligation in TC-NER Gene Set

From Reactome Pathways

proteins participating in the Gap-filling DNA repair synthesis and ligation in TC-NER pathway from the Reactome Pathways dataset.

Repair synthesis of patch ~27-30 bases long by DNA polymerase Gene Set

From Reactome Pathways

proteins participating in the Repair synthesis of patch ~27-30 bases long by DNA polymerase pathway from the Reactome Pathways dataset.

excision Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term excision in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

reversion by viral sequence excision Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the reversion by viral sequence excision phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

dna-dependent protein kinase-dna ligase 4 complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dna-dependent protein kinase-dna ligase 4 complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

DNA ligase IV-Xrcc4-DNA-protein kinase complex Gene Set

From CORUM Protein Complexes

proteins in the DNA ligase IV-Xrcc4-DNA-protein kinase complex protein complex from the CORUM Protein Complexes dataset.

DNA ligase III-XRCC1-PNK-DNA-pol III multiprotein complex Gene Set

From CORUM Protein Complexes

proteins in the DNA ligase III-XRCC1-PNK-DNA-pol III multiprotein complex protein complex from the CORUM Protein Complexes dataset.

dna-dependent dna replication Gene Set

From GO Biological Process Annotations

genes participating in the dna-dependent dna replication biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dna-dependent dna replication initiation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dna-dependent dna replication initiation biological process from the curated GO Biological Process Annotations dataset.

dna strand elongation involved in dna replication Gene Set

From GO Biological Process Annotations

genes participating in the dna strand elongation involved in dna replication biological process from the curated GO Biological Process Annotations dataset.

regulation of dna-dependent dna replication initiation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dna-dependent dna replication initiation biological process from the curated GO Biological Process Annotations dataset.

regulation of dna-dependent dna replication Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dna-dependent dna replication biological process from the curated GO Biological Process Annotations dataset.

dna ligation involved in dna recombination Gene Set

From GO Biological Process Annotations

genes participating in the dna ligation involved in dna recombination biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dna-dependent dna replication Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dna-dependent dna replication biological process from the curated GO Biological Process Annotations dataset.

negative regulation of dna-dependent dna replication Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of dna-dependent dna replication biological process from the curated GO Biological Process Annotations dataset.

dna-dependent dna replication maintenance of fidelity Gene Set

From GO Biological Process Annotations

genes participating in the dna-dependent dna replication maintenance of fidelity biological process from the curated GO Biological Process Annotations dataset.

dna unwinding involved in dna replication Gene Set

From GO Biological Process Annotations

genes participating in the dna unwinding involved in dna replication biological process from the curated GO Biological Process Annotations dataset.

dna-dependent protein kinase-dna ligase 4 complex Gene Set

From GO Cellular Component Annotations

proteins localized to the dna-dependent protein kinase-dna ligase 4 complex cellular component from the curated GO Cellular Component Annotations dataset.

single-stranded dna-dependent atp-dependent dna helicase activity Gene Set

From GO Molecular Function Annotations

genes performing the single-stranded dna-dependent atp-dependent dna helicase activity molecular function from the curated GO Molecular Function Annotations dataset.

dna-directed dna polymerase activity Gene Set

From GO Molecular Function Annotations

genes performing the dna-directed dna polymerase activity molecular function from the curated GO Molecular Function Annotations dataset.

DNA-directed DNA polymerase, family B, exonuclease domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B, exonuclease domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA polymerase, family B, multifunctional domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B, multifunctional domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Methylated-DNA-[protein]-cysteine S-methyltransferase, DNA binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Methylated-DNA-[protein]-cysteine S-methyltransferase, DNA binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA glycosylase/AP lyase, H2TH DNA-binding Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA glycosylase/AP lyase, H2TH DNA-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA polymerase, family B, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA-polymerase, family A, mitochondria Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA-polymerase, family A, mitochondria protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Zinc finger, DNA-directed DNA polymerase, family B, alpha Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Zinc finger, DNA-directed DNA polymerase, family B, alpha protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA topoisomerase I, DNA binding, eukaryotic-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA topoisomerase I, DNA binding, eukaryotic-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA topoisomerase, type IA, DNA-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA topoisomerase, type IA, DNA-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA polymerase X Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase X protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA topoisomerase I, DNA binding, mixed alpha/beta motif, eukaryotic-type protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA/RNA polymerase mu Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA/RNA polymerase mu protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA polymerase, family A, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family A, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA polymerase, family A, palm domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family A, palm domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA-directed DNA polymerase, family B Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA-directed DNA polymerase, family B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA glycosylase/AP lyase, zinc finger domain, DNA-binding site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA glycosylase/AP lyase, zinc finger domain, DNA-binding site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Translesion synthesis by DNA polymerases bypassing lesion on DNA template Gene Set

From Reactome Pathways

proteins participating in the Translesion synthesis by DNA polymerases bypassing lesion on DNA template pathway from the Reactome Pathways dataset.

Integration of viral DNA into host genomic DNA Gene Set

From Reactome Pathways

proteins participating in the Integration of viral DNA into host genomic DNA pathway from the Reactome Pathways dataset.

Brain Damage, Chronic Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Brain Damage, Chronic from the curated CTD Gene-Disease Associations dataset.

microangiopathy- related cerebral damage (marcd) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease microangiopathy- related cerebral damage (marcd) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain damage, chronic; brain injuries Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain damage, chronic; brain injuries in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain damage, chronic; hypertension; myocardial ischemia; stroke Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain damage, chronic; hypertension; myocardial ischemia; stroke in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

renal tubular damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease renal tubular damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

carotid artery damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease carotid artery damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

muscle damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease muscle damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

brain damage, chronic; hypoxia-ischemia, brain; infant, newborn, diseases Gene Set

From GAD Gene-Disease Associations

genes associated with the disease brain damage, chronic; hypoxia-ischemia, brain; infant, newborn, diseases in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

cardiovascular disease; carotid artery damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease cardiovascular disease; carotid artery damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

radiation-induced damage to normal tissues Gene Set

From GAD Gene-Disease Associations

genes associated with the disease radiation-induced damage to normal tissues in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

progressive renal damage Gene Set

From GAD Gene-Disease Associations

genes associated with the disease progressive renal damage in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

damage Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term damage in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Brain Damage, Chronic Gene Set

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Brain Damage, Chronic phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

decreased susceptibility to induced retinal damage Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased susceptibility to induced retinal damage phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

{uv-induced skin damage} Gene Set

From OMIM Gene-Disease Associations

genes associated with the {uv-induced skin damage} phenotype from the curated OMIM Gene-Disease Associations dataset.

damage Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term damage in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

ABH3 mediated Reversal of Alkylation Damage Gene Set

From Reactome Pathways

proteins participating in the ABH3 mediated Reversal of Alkylation Damage pathway from the Reactome Pathways dataset.

ABH2 mediated Reversal of Alkylation Damage Gene Set

From Reactome Pathways

proteins participating in the ABH2 mediated Reversal of Alkylation Damage pathway from the Reactome Pathways dataset.

Oxidative Damage(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Oxidative Damage(Mus musculus) pathway from the Wikipathways Pathways dataset.

mismatch repair complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mismatch repair complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

excinuclease repair complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the excinuclease repair complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mismatch repair complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mismatch repair complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

repair Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term repair in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

photoreactive repair Gene Set

From GO Biological Process Annotations

genes participating in the photoreactive repair biological process from the curated GO Biological Process Annotations dataset.

meiotic mismatch repair Gene Set

From GO Biological Process Annotations

genes participating in the meiotic mismatch repair biological process from the curated GO Biological Process Annotations dataset.

negative regulation of double-strand break repair via homologous recombination Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of double-strand break repair via homologous recombination biological process from the curated GO Biological Process Annotations dataset.

protein repair Gene Set

From GO Biological Process Annotations

genes participating in the protein repair biological process from the curated GO Biological Process Annotations dataset.

pyrimidine dimer repair Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine dimer repair biological process from the curated GO Biological Process Annotations dataset.

double-strand break repair via nonhomologous end joining Gene Set

From GO Biological Process Annotations

genes participating in the double-strand break repair via nonhomologous end joining biological process from the curated GO Biological Process Annotations dataset.

double-strand break repair via homologous recombination Gene Set

From GO Biological Process Annotations

genes participating in the double-strand break repair via homologous recombination biological process from the curated GO Biological Process Annotations dataset.

negative regulation of double-strand break repair via nonhomologous end joining Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of double-strand break repair via nonhomologous end joining biological process from the curated GO Biological Process Annotations dataset.

regulation of mismatch repair Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mismatch repair biological process from the curated GO Biological Process Annotations dataset.

regulation of double-strand break repair via nonhomologous end joining Gene Set

From GO Biological Process Annotations

genes participating in the regulation of double-strand break repair via nonhomologous end joining biological process from the curated GO Biological Process Annotations dataset.

rna repair Gene Set

From GO Biological Process Annotations

genes participating in the rna repair biological process from the curated GO Biological Process Annotations dataset.

negative regulation of double-strand break repair Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of double-strand break repair biological process from the curated GO Biological Process Annotations dataset.

double-strand break repair via alternative nonhomologous end joining Gene Set

From GO Biological Process Annotations

genes participating in the double-strand break repair via alternative nonhomologous end joining biological process from the curated GO Biological Process Annotations dataset.

mismatch repair Gene Set

From GO Biological Process Annotations

genes participating in the mismatch repair biological process from the curated GO Biological Process Annotations dataset.

regulation of double-strand break repair Gene Set

From GO Biological Process Annotations

genes participating in the regulation of double-strand break repair biological process from the curated GO Biological Process Annotations dataset.

postreplication repair Gene Set

From GO Biological Process Annotations

genes participating in the postreplication repair biological process from the curated GO Biological Process Annotations dataset.

positive regulation of double-strand break repair Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of double-strand break repair biological process from the curated GO Biological Process Annotations dataset.

recombinational repair Gene Set

From GO Biological Process Annotations

genes participating in the recombinational repair biological process from the curated GO Biological Process Annotations dataset.

positive regulation of double-strand break repair via nonhomologous end joining Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of double-strand break repair via nonhomologous end joining biological process from the curated GO Biological Process Annotations dataset.

double-strand break repair via classical nonhomologous end joining Gene Set

From GO Biological Process Annotations

genes participating in the double-strand break repair via classical nonhomologous end joining biological process from the curated GO Biological Process Annotations dataset.

non-recombinational repair Gene Set

From GO Biological Process Annotations

genes participating in the non-recombinational repair biological process from the curated GO Biological Process Annotations dataset.

plasma membrane repair Gene Set

From GO Biological Process Annotations

genes participating in the plasma membrane repair biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mismatch repair Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mismatch repair biological process from the curated GO Biological Process Annotations dataset.

double-strand break repair Gene Set

From GO Biological Process Annotations

genes participating in the double-strand break repair biological process from the curated GO Biological Process Annotations dataset.

regulation of double-strand break repair via homologous recombination Gene Set

From GO Biological Process Annotations

genes participating in the regulation of double-strand break repair via homologous recombination biological process from the curated GO Biological Process Annotations dataset.

single strand break repair Gene Set

From GO Biological Process Annotations

genes participating in the single strand break repair biological process from the curated GO Biological Process Annotations dataset.

interstrand cross-link repair Gene Set

From GO Biological Process Annotations

genes participating in the interstrand cross-link repair biological process from the curated GO Biological Process Annotations dataset.

double-strand break repair via break-induced replication Gene Set

From GO Biological Process Annotations

genes participating in the double-strand break repair via break-induced replication biological process from the curated GO Biological Process Annotations dataset.

mismatch repair complex Gene Set

From GO Cellular Component Annotations

proteins localized to the mismatch repair complex cellular component from the curated GO Cellular Component Annotations dataset.

mismatch repair complex binding Gene Set

From GO Molecular Function Annotations

genes performing the mismatch repair complex binding molecular function from the curated GO Molecular Function Annotations dataset.

NADH repair Gene Set

From HumanCyc Pathways

proteins participating in the NADH repair pathway from the HumanCyc Pathways dataset.

Double-strand recombination repair protein, Mei5-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Double-strand recombination repair protein, Mei5-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal mismatch repair Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mismatch repair phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

mismatch repair cancer syndrome Gene Set

From OMIM Gene-Disease Associations

genes associated with the mismatch repair cancer syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

repair Gene Set

From Phosphosite Textmining Biological Term Annotations

proteins co-occuring with the biological term repair in abstracts of publications describing phosphosites from the Phosphosite Textmining Biological Term Annotations dataset.

Homologous Recombination Repair Gene Set

From Reactome Pathways

proteins participating in the Homologous Recombination Repair pathway from the Reactome Pathways dataset.

Double-Strand Break Repair Gene Set

From Reactome Pathways

proteins participating in the Double-Strand Break Repair pathway from the Reactome Pathways dataset.

Formation of transcription-coupled NER (TC-NER) repair complex Gene Set

From Reactome Pathways

proteins participating in the Formation of transcription-coupled NER (TC-NER) repair complex pathway from the Reactome Pathways dataset.

Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Gene Set

From Reactome Pathways

proteins participating in the Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) pathway from the Reactome Pathways dataset.

Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Gene Set

From Reactome Pathways

proteins participating in the Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) pathway from the Reactome Pathways dataset.

ATM mediated phosphorylation of repair proteins Gene Set

From Reactome Pathways

proteins participating in the ATM mediated phosphorylation of repair proteins pathway from the Reactome Pathways dataset.

Recruitment of repair and signaling proteins to double-strand breaks Gene Set

From Reactome Pathways

proteins participating in the Recruitment of repair and signaling proteins to double-strand breaks pathway from the Reactome Pathways dataset.

Homologous recombination repair of replication-independent double-strand breaks Gene Set

From Reactome Pathways

proteins participating in the Homologous recombination repair of replication-independent double-strand breaks pathway from the Reactome Pathways dataset.

Mismatch Repair Gene Set

From Reactome Pathways

proteins participating in the Mismatch Repair pathway from the Reactome Pathways dataset.

Mismatch repair(Mus musculus) Gene Set

From Wikipathways Pathways

proteins participating in the Mismatch repair(Mus musculus) pathway from the Wikipathways Pathways dataset.

Mismatch repair(Homo sapiens) Gene Set

From Wikipathways Pathways

proteins participating in the Mismatch repair(Homo sapiens) pathway from the Wikipathways Pathways dataset.

guanyl-nucleotide exchange factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the guanyl-nucleotide exchange factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ric1-rgp1 guanyl-nucleotide exchange factor complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ric1-rgp1 guanyl-nucleotide exchange factor complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intracellular cyclic nucleotide activated cation channel complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intracellular cyclic nucleotide activated cation channel complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

guanyl-nucleotide exchange factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the guanyl-nucleotide exchange factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

ric1-rgp1 guanyl-nucleotide exchange factor complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the ric1-rgp1 guanyl-nucleotide exchange factor complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Aptamers, Nucleotide Gene Set

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Aptamers, Nucleotide from the curated CTD Gene-Chemical Interactions dataset.

nucleotide Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term nucleotide in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

nucleotide transport Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide transport biological process from the curated GO Biological Process Annotations dataset.

nucleotide-sugar biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-sugar biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide transport Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide transport biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cyclic-nucleotide phosphodiesterase activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cyclic-nucleotide phosphodiesterase activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of purine nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide-binding oligomerization domain containing signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide-binding oligomerization domain containing signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of cyclic nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cyclic nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of cyclic nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cyclic nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

cyclic purine nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the cyclic purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

nicotinate nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the nicotinate nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

nicotinate nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the nicotinate nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

nucleotide-sugar metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-sugar metabolic process biological process from the curated GO Biological Process Annotations dataset.

mitochondrial pyrimidine nucleotide import Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial pyrimidine nucleotide import biological process from the curated GO Biological Process Annotations dataset.

pyridine nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the pyridine nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of rho guanyl-nucleotide exchange factor activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of rho guanyl-nucleotide exchange factor activity biological process from the curated GO Biological Process Annotations dataset.

nucleotide-binding oligomerization domain containing signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-binding oligomerization domain containing signaling pathway biological process from the curated GO Biological Process Annotations dataset.

purinergic nucleotide receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the purinergic nucleotide receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cyclic nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cyclic nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of nucleotide-binding oligomerization domain containing signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nucleotide-binding oligomerization domain containing signaling pathway biological process from the curated GO Biological Process Annotations dataset.

cyclic nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the cyclic nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

nucleotide-binding oligomerization domain containing 2 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-binding oligomerization domain containing 2 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

purine nucleotide salvage Gene Set

From GO Biological Process Annotations

genes participating in the purine nucleotide salvage biological process from the curated GO Biological Process Annotations dataset.

nucleotide phosphorylation Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide phosphorylation biological process from the curated GO Biological Process Annotations dataset.

nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of purine nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of rho guanyl-nucleotide exchange factor activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of rho guanyl-nucleotide exchange factor activity biological process from the curated GO Biological Process Annotations dataset.

nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of purine nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of purine nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cyclic nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cyclic nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nucleotide-binding oligomerization domain containing signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nucleotide-binding oligomerization domain containing signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cyclic nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cyclic nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cyclic nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cyclic nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of purine nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

positive regulation of nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

nucleotide salvage Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide salvage biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cyclic nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cyclic nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of cyclic nucleotide-gated ion channel activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cyclic nucleotide-gated ion channel activity biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide-sugar transmembrane transport Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide-sugar transmembrane transport biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide-sugar transport Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide-sugar transport biological process from the curated GO Biological Process Annotations dataset.

nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

nicotinamide nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the nicotinamide nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of purine nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

nucleotide-sugar transport Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-sugar transport biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cyclic nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cyclic nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of cyclic-nucleotide phosphodiesterase activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cyclic-nucleotide phosphodiesterase activity biological process from the curated GO Biological Process Annotations dataset.

g-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger Gene Set

From GO Biological Process Annotations

genes participating in the g-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger biological process from the curated GO Biological Process Annotations dataset.

pyridine nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the pyridine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

pyridine nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the pyridine nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

nicotinate nucleotide salvage Gene Set

From GO Biological Process Annotations

genes participating in the nicotinate nucleotide salvage biological process from the curated GO Biological Process Annotations dataset.

pyridine nucleotide salvage Gene Set

From GO Biological Process Annotations

genes participating in the pyridine nucleotide salvage biological process from the curated GO Biological Process Annotations dataset.

nucleotide-sugar catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-sugar catabolic process biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

g-protein coupled purinergic nucleotide receptor signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the g-protein coupled purinergic nucleotide receptor signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

g-protein coupled receptor signaling pathway coupled to cgmp nucleotide second messenger Gene Set

From GO Biological Process Annotations

genes participating in the g-protein coupled receptor signaling pathway coupled to cgmp nucleotide second messenger biological process from the curated GO Biological Process Annotations dataset.

positive regulation of nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

purine nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the purine nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

nucleotide-binding oligomerization domain containing 1 signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the nucleotide-binding oligomerization domain containing 1 signaling pathway biological process from the curated GO Biological Process Annotations dataset.

pyrimidine nucleotide salvage Gene Set

From GO Biological Process Annotations

genes participating in the pyrimidine nucleotide salvage biological process from the curated GO Biological Process Annotations dataset.

cyclic nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the cyclic nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

cyclic nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the cyclic nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

regulation of purine nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

purine nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

adenine nucleotide transport Gene Set

From GO Biological Process Annotations

genes participating in the adenine nucleotide transport biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cyclic-nucleotide phosphodiesterase activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cyclic-nucleotide phosphodiesterase activity biological process from the curated GO Biological Process Annotations dataset.

cyclic-nucleotide-mediated signaling Gene Set

From GO Biological Process Annotations

genes participating in the cyclic-nucleotide-mediated signaling biological process from the curated GO Biological Process Annotations dataset.

negative regulation of purine nucleotide biosynthetic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of purine nucleotide biosynthetic process biological process from the curated GO Biological Process Annotations dataset.

regulation of nucleotide metabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of nucleotide metabolic process biological process from the curated GO Biological Process Annotations dataset.

purine nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the purine nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.

purine nucleotide transport Gene Set

From GO Biological Process Annotations

genes participating in the purine nucleotide transport biological process from the curated GO Biological Process Annotations dataset.

regulation of cyclic nucleotide catabolic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cyclic nucleotide catabolic process biological process from the curated GO Biological Process Annotations dataset.