Name

TIAL1 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1

The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]

GP2 Gene

glycoprotein 2 (zymogen granule membrane)

This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

EGOT Gene

eosinophil granule ontogeny transcript (non-protein coding)

PRG2 Gene

proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)

The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

LOC100422449 Gene

TIA1 cytotoxic granule-associated RNA binding protein-like 1 pseudogene

NKG7 Gene

natural killer cell granule protein 7

ZG16B Gene

zymogen granule protein 16B

ZG16 Gene

zymogen granule protein 16

TIA1 Gene

TIA1 cytotoxic granule-associated RNA binding protein

The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq, Jul 2008]

SELP Gene

selectin P (granule membrane protein 140kDa, antigen CD62)

This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]

UFSP1 Gene

UFM1-specific peptidase 1 (non-functional)

This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]

UFSP2 Gene

UFM1-specific peptidase 2

Like ubiquitin (see MIM 191339), ubiquitin-fold modifier-1 (UFM1; MIM 610553) must be processed by a protease before it can conjugate with its target proteins. UFSP2 is a thiol protease that specifically processes the C terminus of UFM1 (Kang et al., 2007 [PubMed 17182609]).[supplied by OMIM, Oct 2009]

TTTY25P Gene

testis-specific transcript, Y-linked 25, pseudogene

USP17L30 Gene

ubiquitin specific peptidase 17-like family member 30

MSL3P1 Gene

male-specific lethal 3 homolog (Drosophila) pseudogene 1

MZB1 Gene

marginal zone B and B1 cell-specific protein

KDM1A Gene

lysine (K)-specific demethylase 1A

This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

KDM1B Gene

lysine (K)-specific demethylase 1B

Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]

USP10P1 Gene

ubiquitin specific peptidase 10 pseudogene 1

USP10P2 Gene

ubiquitin specific peptidase10 pseudogene 2

TSPY8 Gene

testis specific protein, Y-linked 8

TSPY2 Gene

testis specific protein, Y-linked 2

TSPY1 Gene

testis specific protein, Y-linked 1

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Approximately 35 copies of this gene are present in humans, but only a single, nonfunctional orthologous gene is found in mouse. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

LOC100420351 Gene

ubiquitin specific peptidase 8 pseudogene

GAS2L1 Gene

growth arrest-specific 2 like 1

This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Jul 2013]

GAS2L3 Gene

growth arrest-specific 2 like 3

GAS2L2 Gene

growth arrest-specific 2 like 2

The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]

AOC2 Gene

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

USP32P1 Gene

ubiquitin specific peptidase 32 pseudogene 1

USP32P2 Gene

ubiquitin specific peptidase 32 pseudogene 2

USP32P4 Gene

ubiquitin specific peptidase 32 pseudogene 4

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)

LOC100420666 Gene

lysine (K)-specific demethylase 3A pseudogene

USP9X Gene

ubiquitin specific peptidase 9, X-linked

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP9Y Gene

ubiquitin specific peptidase 9, Y-linked

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

USP9YP34 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 34

USP9YP30 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 30

SSRP1 Gene

structure specific recognition protein 1

The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]

CALY Gene

calcyon neuron-specific vesicular protein

The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]

USP17L3 Gene

ubiquitin specific peptidase 17-like family member 3

CPSF3L Gene

cleavage and polyadenylation specific factor 3-like

The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]

PSG8 Gene

pregnancy specific beta-1-glycoprotein 8

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

PSG9 Gene

pregnancy specific beta-1-glycoprotein 9

The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]

PSG6 Gene

pregnancy specific beta-1-glycoprotein 6

This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]

PSG7 Gene

pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)

This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

PSG4 Gene

pregnancy specific beta-1-glycoprotein 4

The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

PSG5 Gene

pregnancy specific beta-1-glycoprotein 5

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

PSG2 Gene

pregnancy specific beta-1-glycoprotein 2

The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

PSG3 Gene

pregnancy specific beta-1-glycoprotein 3

The human pregnancy-specific glycoproteins (PSGs) are a family of proteins that are synthesized in large amounts by placental trophoblasts and released into the maternal circulation during pregnancy. Molecular cloning and analysis of several PSG genes has indicated that the PSGs form a subgroup of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily of genes. Members of the CEA family consist of a single N domain, with structural similarity to the immunoglobulin variable domains, followed by a variable number of immunoglobulin constant-like A and/or B domains. Most PSGs have an arg-gly-asp (RGD) motif, which has been shown to function as an adhesion recognition signal for several integrins, in the N-terminal domain (summary by Teglund et al., 1994 [PubMed 7851896]). For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

PSG1 Gene

pregnancy specific beta-1-glycoprotein 1

The human placenta is a multihormonal endocrine organ that produces hormones, enzymes, and other molecules that support fetal survival and development. Pregnancy-specific beta-1-glycoprotein (PSBG, PSG) is a major product of the syncytiotrophoblast, reaching concentrations of 100 to 290 mg/l at term in the serum of pregnant women (Horne et al., 1976 [PubMed 971765]). PSG is a member of the immunoglobulin (Ig) superfamily (Watanabe and Chou, 1988 [PubMed 3257488]; Streydio et al., 1988 [PubMed 3260773]).[supplied by OMIM, Oct 2009]

TSPY18P Gene

testis specific protein, Y-linked 18, pseudogene

NPSA Gene

novel prostate-specific antigen

TSPY23P Gene

testis specific protein, Y-linked 23, pseudogene

PLAC1 Gene

placenta-specific 1

PLAC4 Gene

placenta-specific 4

PLAC9 Gene

placenta-specific 9

PLAC8 Gene

placenta-specific 8

USP12 Gene

ubiquitin specific peptidase 12

USP10 Gene

ubiquitin specific peptidase 10

Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]

USP11 Gene

ubiquitin specific peptidase 11

Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]

USP16 Gene

ubiquitin specific peptidase 16

This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP14 Gene

ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP15 Gene

ubiquitin specific peptidase 15

This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. 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 2. [provided by RefSeq, Nov 2011]

USP18 Gene

ubiquitin specific peptidase 18

The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and thymus, and is localized to the nucleus. This protein efficiently cleaves only ISG15 (a ubiquitin-like protein) fusions, and deletion of this gene in mice results in a massive increase of ISG15 conjugates in tissues, indicating that this protein is a major ISG15-specific protease. Mice lacking this gene are also hypersensitive to interferon, suggesting a function of this protein in downregulating interferon responses, independent of its isopeptidase activity towards ISG15. [provided by RefSeq, Sep 2011]

USP19 Gene

ubiquitin specific peptidase 19

DEFA6 Gene

defensin, alpha 6, Paneth cell-specific

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]

DEFA5 Gene

defensin, alpha 5, Paneth cell-specific

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

DEFA3 Gene

defensin, alpha 3, neutrophil-specific

Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

AGER Gene

advanced glycosylation end product-specific receptor

The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]

PLD1 Gene

phospholipase D1, phosphatidylcholine-specific

This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]

HOTAIRM1 Gene

HOXA transcript antisense RNA, myeloid-specific 1

This non-coding locus is located in the HOX gene cluster. Transcription of this locus is induced by retinoic acid, and transcripts likely function in regulation of myelopoiesis through transcriptional activation of several genes in the HOXA cluster, in addition to several beta-2 integrins. [provided by RefSeq, Jan 2013]

TTTY13B Gene

testis-specific transcript, Y-linked 13B

TSPY4 Gene

testis specific protein, Y-linked 4

TSPY3 Gene

testis specific protein, Y-linked 3

TTTY28P Gene

testis-specific transcript, Y-linked 28, pseudogene

USP35 Gene

ubiquitin specific peptidase 35

USP36 Gene

ubiquitin specific peptidase 36

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP36 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jan 2009]

KDM2A Gene

lysine (K)-specific demethylase 2A

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

KDM2B Gene

lysine (K)-specific demethylase 2B

This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

TSPY17P Gene

testis specific protein, Y-linked 17, pseudogene

USP8P1 Gene

ubiquitin specific peptidase 8 pseudogene 1

LOC100421094 Gene

ubiquitin specific peptidase 17-like family member 2 pseudogene

LSP1P1 Gene

lymphocyte-specific protein 1 pseudogene 1

LSP1P2 Gene

lymphocyte-specific protein 1 pseudogene 2

AIS3 Gene

autoimmune susceptibility 3 (vitiligo specific)

SNCG Gene

synuclein, gamma (breast cancer-specific protein 1)

This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]

ADARB2 Gene

adenosine deaminase, RNA-specific, B2 (non-functional)

This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]

ADARB1 Gene

adenosine deaminase, RNA-specific, B1

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

HMCES Gene

5-hydroxymethylcytosine (hmC) binding, ES cell-specific

LOC105369236 Gene

structure-specific endonuclease subunit SLX1-like

LOC100129053 Gene

lysine (K)-specific demethylase 4E pseudogene

HCLS1 Gene

hematopoietic cell-specific Lyn substrate 1

MESTP4 Gene

mesoderm specific transcript pseudogene 4

MESTP1 Gene

mesoderm specific transcript pseudogene 1

MESTP3 Gene

mesoderm specific transcript pseudogene 3

MESTP2 Gene

mesoderm specific transcript pseudogene 2

XIST Gene

X inactive specific transcript (non-protein coding)

X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]

KDM8 Gene

lysine (K)-specific demethylase 8

This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

USP17L21 Gene

ubiquitin specific peptidase 17-like family member 21

TSPY20P Gene

testis specific protein, Y-linked 20, pseudogene

TTTY3B Gene

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

KDM4E Gene

lysine (K)-specific demethylase 4E

KDM4D Gene

lysine (K)-specific demethylase 4D

USP9YP3 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 3

USP9YP5 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 5

USP9YP4 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 4

FEN1 Gene

flap structure-specific endonuclease 1

The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]

USP9YP1 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 1

USP9YP2 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 2

TTTY17A Gene

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY17B Gene

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY17C Gene

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

PTF1A Gene

pancreas specific transcription factor, 1a

This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]

EME1 Gene

essential meiotic structure-specific endonuclease 1

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

EME2 Gene

essential meiotic structure-specific endonuclease subunit 2

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

CPSF4L Gene

cleavage and polyadenylation specific factor 4-like

MPLKIP Gene

M-phase specific PLK1 interacting protein

The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]

AQP6 Gene

aquaporin 6, kidney specific

The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]

RESP18 Gene

regulated endocrine-specific protein 18

SLI4 Gene

Specific language impairment 4

SLI2 Gene

Specific language impairment QTL, 2

SLI3 Gene

Specific language impairment QTL, 3

SLI1 Gene

Specific language impairment QTL, 1

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]

TSPY12P Gene

testis specific protein, Y-linked 12, pseudogene

PLCG2 Gene

phospholipase C, gamma 2 (phosphatidylinositol-specific)

The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]

KDM7A Gene

lysine (K)-specific demethylase 7A

USP17L28 Gene

ubiquitin specific peptidase 17-like family member 28

USP17L22 Gene

ubiquitin specific peptidase 17-like family member 22

USP17L23 Gene

ubiquitin specific peptidase 17-like family member 23

USP17L20 Gene

ubiquitin specific peptidase 17-like family member 20

CST8 Gene

cystatin 8 (cystatin-related epididymal specific)

The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

LOC100421737 Gene

ubiquitin specific peptidase 4 (proto-oncogene) pseudogene

LOC100420435 Gene

ubiquitin specific peptidase 21 pseudogene

MUS81 Gene

MUS81 structure-specific endonuclease subunit

LOC101930132 Gene

pollen-specific leucine-rich repeat extensin-like protein 1

BRDT Gene

bromodomain, testis-specific

BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

TTTY23B Gene

testis-specific transcript, Y-linked 23B (non-protein coding)

H1FNT Gene

H1 histone family, member N, testis-specific

PCGEM1 Gene

PCGEM1, prostate-specific transcript (non-protein coding)

ENDOU Gene

endonuclease, polyU-specific

This gene encodes a protein with protease activity and is expressed in the placenta. The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants have been found for this protein. [provided by RefSeq, Feb 2010]

MSL2 Gene

male-specific lethal 2 homolog (Drosophila)

LOC345576 Gene

ubiquitin specific peptidase 7 (herpes virus-associated) pseudogene

TTTY6B Gene

testis-specific transcript, Y-linked 6B (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

FIGLA Gene

folliculogenesis specific basic helix-loop-helix

This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]

SSFA2 Gene

sperm specific antigen 2

PRNT Gene

prion protein (testis specific)

TOPAZ1 Gene

testis and ovary specific PAZ domain containing 1

USP9YP11 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 11

USP9YP10 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 10

USP9YP13 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 13

USP9YP12 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 12

LOC100420440 Gene

ubiquitin specific peptidase 12 pseudogene

ECM2 Gene

extracellular matrix protein 2, female organ and adipocyte specific

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

SCARNA27 Gene

small Cajal body-specific RNA 27

SCARNA22 Gene

small Cajal body-specific RNA 22

SCARNA23 Gene

small Cajal body-specific RNA 23

SCARNA20 Gene

small Cajal body-specific RNA 20

SCARNA21 Gene

small Cajal body-specific RNA 21

LOC100420428 Gene

ubiquitin specific peptidase 21 pseudogene

USP22 Gene

ubiquitin specific peptidase 22

PARN Gene

poly(A)-specific ribonuclease

The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

TSPY25P Gene

testis specific protein, Y-linked 25, pseudogene

LST1 Gene

leukocyte specific transcript 1

The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

USP17L2 Gene

ubiquitin specific peptidase 17-like family member 2

DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008]

USP17L1 Gene

ubiquitin specific peptidase 17-like family member 1

USP17L7 Gene

ubiquitin specific peptidase 17-like family member 7

USP17L5 Gene

ubiquitin specific peptidase 17-like family member 5

USP17L4 Gene

ubiquitin specific peptidase 17-like family member 4

USP17L8 Gene

ubiquitin specific peptidase 17-like family member 8

FUT4 Gene

fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)

The product of this gene transfers fucose to N-acetyllactosamine polysaccharides to generate fucosylated carbohydrate structures. It catalyzes the synthesis of the non-sialylated antigen, Lewis x (CD15). [provided by RefSeq, Jan 2009]

PXT1 Gene

peroxisomal, testis specific 1

TSPY11P Gene

testis specific protein, Y-linked 11, pseudogene

LOC100533913 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100533914 Gene

ubiquitin specific peptidase 8 pseudogene

USP38 Gene

ubiquitin specific peptidase 38

USP39 Gene

ubiquitin specific peptidase 39

USP30 Gene

ubiquitin specific peptidase 30

USP30, a member of the ubiquitin-specific protease family (see USP1, MIM 603478), is a novel mitochondrial deubiquitinating (DUB) enzyme (Nakamura and Hirose, 2008 [PubMed 18287522]).[supplied by OMIM, Dec 2008]

USP31 Gene

ubiquitin specific peptidase 31

USP32 Gene

ubiquitin specific peptidase 32

USP33 Gene

ubiquitin specific peptidase 33

This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

USP34 Gene

ubiquitin specific peptidase 34

USP37 Gene

ubiquitin specific peptidase 37

LOC100288628 Gene

SUMO1/sentrin specific peptidase 6 pseudogene

SCARNA5 Gene

small Cajal body-specific RNA 5

SCARNA4 Gene

small Cajal body-specific RNA 4

SCARNA2 Gene

small Cajal body-specific RNA 2

TESK1 Gene

testis-specific kinase 1

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain and a C-terminal proline-rich domain. Its protein kinase domain is most closely related to those of the LIM motif-containing protein kinases (LIMKs). The encoded protein can phosphorylate myelin basic protein and histone in vitro. The testicular germ cell-specific expression and developmental pattern of expression of the mouse gene suggests that this gene plays an important role at and after the meiotic phase of spermatogenesis. [provided by RefSeq, Jul 2008]

TESK2 Gene

testis-specific kinase 2

This gene product is a serine/threonine protein kinase that contains an N-terminal protein kinase domain that is structurally similar to the kinase domains of testis-specific protein kinase-1 and the LIM motif-containing protein kinases (LIMKs). Its overall structure is most related to the former, indicating that it belongs to the TESK subgroup of the LIMK/TESK family of protein kinases. This gene is predominantly expressed in testis and prostate. The developmental expression pattern of the rat gene in testis suggests an important role for this gene in meitoic stages and/or early stages of spermiogenesis. [provided by RefSeq, Jul 2008]

PDE5A Gene

phosphodiesterase 5A, cGMP-specific

This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

GAS2L1P1 Gene

growth arrest-specific 2 like 1 pseudogene 1

LOC100421300 Gene

pregnancy specific beta-1-glycoprotein 9 pseudogene

TTTY26P Gene

testis-specific transcript, Y-linked 26, pseudogene

USP17L29 Gene

ubiquitin specific peptidase 17-like family member 29

USP17L26 Gene

ubiquitin specific peptidase 17-like family member 26

USP17L27 Gene

ubiquitin specific peptidase 17-like family member 27

USP17L24 Gene

ubiquitin specific peptidase 17-like family member 24

USP17L25 Gene

ubiquitin specific peptidase 17-like family member 25

TSKS Gene

testis-specific serine kinase substrate

This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]

TTTY2 Gene

testis-specific transcript, Y-linked 2 (non-protein coding)

TTTY3 Gene

testis-specific transcript, Y-linked 3 (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY1 Gene

testis-specific transcript, Y-linked 1 (non-protein coding)

TTTY6 Gene

testis-specific transcript, Y-linked 6 (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY7 Gene

testis-specific transcript, Y-linked 7 (non-protein coding)

TTTY4 Gene

testis-specific transcript, Y-linked 4 (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

TTTY5 Gene

testis-specific transcript, Y-linked 5 (non-protein coding)

There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

TTTY8 Gene

testis-specific transcript, Y-linked 8 (non-protein coding)

MSL3 Gene

male-specific lethal 3 homolog (Drosophila)

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]

TSPY19P Gene

testis specific protein, Y-linked 19, pseudogene

PSG11 Gene

pregnancy specific beta-1-glycoprotein 11

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

XACT Gene

X active specific transcript (non-protein coding)

This gene produces a spliced long non-coding RNA that is thought to play a role in the control of X-chromosome inactivation (XCI). This transcript has been shown to specifically coat the active X chromosome in human pluripotent cells. [provided by RefSeq, Mar 2015]

LOC100533911 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100533912 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100533915 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100533916 Gene

ubiquitin specific peptidase 8 pseudogene

SLX1A Gene

SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae)

This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010]

SLX1B Gene

SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae)

This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010]

ISX Gene

intestine-specific homeobox

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the RAXLX homeobox gene family. [provided by RefSeq, Jul 2008]

NSG1 Gene

neuron specific gene family member 1

MEST Gene

mesoderm specific transcript

This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]

USPL1 Gene

ubiquitin specific peptidase like 1

LOC642487 Gene

H1 histone family, member O, oocyte-specific pseudogene

BRKS1 Gene

Telopeptide lysyl hydroxylase, bone-specific

GTSF1L Gene

gametocyte specific factor 1-like

MEIOB Gene

meiosis specific with OB domains

TSPY9P Gene

testis specific protein, Y-linked 9, pseudogene

USP9YP22 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 22

USP9YP23 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 23

LOC100887079 Gene

ubiquitin specific peptidase 17-like family member 22 pseudogene

MSL1 Gene

male-specific lethal 1 homolog (Drosophila)

TCF7 Gene

transcription factor 7 (T-cell specific, HMG-box)

The protein encoded by this gene is a transcriptional activator that plays an important role in lymphocyte differentiation. This gene is expressed predominantly in T-cells. The encoded protein can bind an enhancer element and activate the CD3E gene, and it also may repress the CTNNB1 and TCF7L2 genes through a feedback mechanism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

TSSK1A Gene

testis-specific serine kinase 1A pseudogene

TSSK1B Gene

testis-specific serine kinase 1B

TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

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]

USP17L16P Gene

ubiquitin specific peptidase 17-like family member 16, pseudogene

TSPY10 Gene

testis specific protein, Y-linked 10

TSPY22P Gene

testis specific protein, Y-linked 22, pseudogene

TTTY14 Gene

testis-specific transcript, Y-linked 14 (non-protein coding)

TTTY15 Gene

testis-specific transcript, Y-linked 15 (non-protein coding)

TTTY16 Gene

testis-specific transcript, Y-linked 16 (non-protein coding)

TTTY10 Gene

testis-specific transcript, Y-linked 10 (non-protein coding)

TTTY11 Gene

testis-specific transcript, Y-linked 11 (non-protein coding)

TTTY12 Gene

testis-specific transcript, Y-linked 12 (non-protein coding)

TTTY13 Gene

testis-specific transcript, Y-linked 13 (non-protein coding)

TTTY18 Gene

testis-specific transcript, Y-linked 18 (non-protein coding)

TTTY19 Gene

testis-specific transcript, Y-linked 19 (non-protein coding)

TTTY1B Gene

testis-specific transcript, Y-linked 1B (non-protein coding)

LOC100631354 Gene

SMAD specific E3 ubiquitin protein ligase 2 pseudogene

TTTY13C Gene

testis-specific transcript, Y-linked 13C

LOC100422687 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 pseudogene

FOLH1 Gene

folate hydrolase (prostate-specific membrane antigen) 1

This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]

SENP7 Gene

SUMO1/sentrin specific peptidase 7

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]

PNLDC1 Gene

poly(A)-specific ribonuclease (PARN)-like domain containing 1

TTTY29P Gene

testis-specific transcript, Y-linked 29, pseudogene

BRDTP1 Gene

bromodomain, testis-specific pseudogene 1

TTTY9A Gene

testis-specific transcript, Y-linked 9A (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

TTTY9B Gene

testis-specific transcript, Y-linked 9B (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

TSPY14P Gene

testis specific protein, Y-linked 14, pseudogene

KDM5D Gene

lysine (K)-specific demethylase 5D

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

KDM5A Gene

lysine (K)-specific demethylase 5A

This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]

KDM5B Gene

lysine (K)-specific demethylase 5B

KDM5C Gene

lysine (K)-specific demethylase 5C

This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

LOC780780 Gene

ubiquitin specific peptidase 10 pseudogene

TTTY21B Gene

testis-specific transcript, Y-linked 21B (non-protein coding)

LOC101060022 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

NCCRP1 Gene

non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)

LOC644070 Gene

putative germ cell-specific gene 1-like protein 2

C1GALT1C1L Gene

C1GALT1-specific chaperone 1 like

LOC101928892 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

ADAT1 Gene

adenosine deaminase, tRNA-specific 1

This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]

ADAT3 Gene

adenosine deaminase, tRNA-specific 3

ADAT2 Gene

adenosine deaminase, tRNA-specific 2

TCP11 Gene

t-complex 11, testis-specific

SMURF1 Gene

SMAD specific E3 ubiquitin protein ligase 1

This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]

SMURF2 Gene

SMAD specific E3 ubiquitin protein ligase 2

HILS1 Gene

histone linker H1 domain, spermatid-specific 1, pseudogene

This locus is the ortholog of a mouse protein-coding gene that displays characteristics of a linker histone and is expressed in nuclei of late maturing spermatids. The human locus is expressed; however, the open reading frame has been disrupted by a frameshift so it is unlikely to encode a functional protein. [provided by RefSeq, Oct 2008]

CPSF7 Gene

cleavage and polyadenylation specific factor 7, 59kDa

CPSF6 Gene

cleavage and polyadenylation specific factor 6, 68kDa

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]

CPSF4 Gene

cleavage and polyadenylation specific factor 4, 30kDa

Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

CPSF3 Gene

cleavage and polyadenylation specific factor 3, 73kDa

This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3'-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3'-end pre-mRNA processing. [provided by RefSeq, Oct 2012]

CPSF2 Gene

cleavage and polyadenylation specific factor 2, 100kDa

CPSF1 Gene

cleavage and polyadenylation specific factor 1, 160kDa

Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]

LOC100420801 Gene

lysine (K)-specific demethylase 4D pseudogene

LOC100420802 Gene

lysine (K)-specific demethylase 4D pseudogene

USP13 Gene

ubiquitin specific peptidase 13 (isopeptidase T-3)

TSSK2 Gene

testis-specific serine kinase 2

TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

LOC100418572 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100418571 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100418576 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100418577 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100418574 Gene

ubiquitin specific peptidase 8 pseudogene

LOC100418575 Gene

ubiquitin specific peptidase 8 pseudogene

TTTY4C Gene

testis-specific transcript, Y-linked 4C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

TTTY4B Gene

testis-specific transcript, Y-linked 4B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

G2E3 Gene

G2/M-phase specific E3 ubiquitin protein ligase

USP54 Gene

ubiquitin specific peptidase 54

USP53 Gene

ubiquitin specific peptidase 53

USP50 Gene

ubiquitin specific peptidase 50

USP51 Gene

ubiquitin specific peptidase 51

LOC100420429 Gene

ubiquitin specific peptidase 15 pseudogene

GUCY2D Gene

guanylate cyclase 2D, membrane (retina-specific)

This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]

SENP8 Gene

SUMO/sentrin specific peptidase family member 8

This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

SENP6 Gene

SUMO1/sentrin specific peptidase 6

Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]

SENP5 Gene

SUMO1/sentrin specific peptidase 5

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP5, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]

SENP3 Gene

SUMO1/sentrin/SMT3 specific peptidase 3

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]

SENP2 Gene

SUMO1/sentrin/SMT3 specific peptidase 2

SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]

SENP1 Gene

SUMO1/sentrin specific peptidase 1

This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

BSX Gene

brain-specific homeobox

POSTN Gene

periostin, osteoblast specific factor

MNS1 Gene

meiosis-specific nuclear structural 1

This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]

BRINP3 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 3

BRINP2 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 2

BRINP1 Gene

bone morphogenetic protein/retinoic acid inducible neural-specific 1

This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5' CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]

CPSF1P1 Gene

cleavage and polyadenylation specific factor 1, 160kDa pseudogene 1

GPLD1 Gene

glycosylphosphatidylinositol specific phospholipase D1

Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]

ADAD1 Gene

adenosine deaminase domain containing 1 (testis-specific)

USP17L19 Gene

ubiquitin specific peptidase 17-like family member 19

USP9YP7 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 7

USP9YP6 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 6

USP9YP9 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 9

KDM6A Gene

lysine (K)-specific demethylase 6A

This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

KDM6B Gene

lysine (K)-specific demethylase 6B

USP9YP8 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 8

TSPY13P Gene

testis specific protein, Y-linked 13, pseudogene

C1GALT1C1 Gene

C1GALT1-specific chaperone 1

This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]

RPE65 Gene

retinal pigment epithelium-specific protein 65kDa

This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]

CHAC1 Gene

ChaC glutathione-specific gamma-glutamylcyclotransferase 1

KMT2C Gene

lysine (K)-specific methyltransferase 2C

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]

KMT2B Gene

lysine (K)-specific methyltransferase 2B

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]

KMT2A Gene

lysine (K)-specific methyltransferase 2A

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

KMT2E Gene

lysine (K)-specific methyltransferase 2E

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

TTTY24P Gene

testis-specific transcript, Y-linked 24, pseudogene

LOC105373984 Gene

anther-specific proline-rich protein APG-like

KDM5DP1 Gene

lysine (K)-specific demethylase 5D pseudogene 1

CABS1 Gene

calcium-binding protein, spermatid-specific 1

EEFSEC Gene

eukaryotic elongation factor, selenocysteine-tRNA-specific

SCARNA9L Gene

small Cajal body-specific RNA 9-like

TCF7L1 Gene

transcription factor 7-like 1 (T-cell specific, HMG-box)

This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]

TCF7L2 Gene

transcription factor 7-like 2 (T-cell specific, HMG-box)

This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]

LOC751837 Gene

WD repeat domain 57 (U5 snRNP specific) pseudogene

LOC389033 Gene

placenta-specific 9 pseudogene

USP27X Gene

ubiquitin specific peptidase 27, X-linked

MTL5 Gene

metallothionein-like 5, testis-specific (tesmin)

Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

TUT1 Gene

terminal uridylyl transferase 1, U6 snRNA-specific

This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]

TTTY7B Gene

testis-specific transcript, Y-linked 7B (non-protein coding)

TSGA13 Gene

testis specific, 13

TSGA10 Gene

testis specific, 10

LOC100420439 Gene

ubiquitin specific peptidase 12 pseudogene

LOC100420432 Gene

ubiquitin specific peptidase 26 pseudogene

SCARNA13 Gene

small Cajal body-specific RNA 13

SCARNA12 Gene

small Cajal body-specific RNA 12

This gene produces a small nuclear RNA that localizes specifically to Cajal bodies, which are conserved subnuclear organelles that are present in the nucleoplasm. This RNA is processed from an intron of the prohibitin 2 host gene. It includes both an H/ACA box and a C/D box, and is thought to guide the pseudouridylation of residue U46 in the U5 small nuclear RNA. [provided by RefSeq, Jun 2010]

SCARNA11 Gene

small Cajal body-specific RNA 11

SCARNA10 Gene

small Cajal body-specific RNA 10

SCARNA17 Gene

small Cajal body-specific RNA 17

SCARNA16 Gene

small Cajal body-specific RNA 16

SCARNA15 Gene

small Cajal body-specific RNA 15

SCARNA14 Gene

small Cajal body-specific RNA 14

SCARNA18 Gene

small Cajal body-specific RNA 18

Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SCARNA18, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]

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]

LOC392196 Gene

ubiquitin specific peptidase 17-like family member 2 pseudogene

USP17L14P Gene

ubiquitin specific peptidase 17-like family member 14, pseudogene

TSPY7P Gene

testis specific protein, Y-linked 7, pseudogene

TSPY24P Gene

testis specific protein, Y-linked 24, pseudogene

USP32P3 Gene

ubiquitin specific peptidase 32 pseudogene 3

USP29 Gene

ubiquitin specific peptidase 29

USP28 Gene

ubiquitin specific peptidase 28

The ubiquitin-dependent protein degradation pathway is essential for proteolysis of intracellular proteins and peptides. Enzymes that remove ubiquitin from ubiquitin-conjugated peptides, like USP28, affect the fate and degradation of intracellular proteins and are essential for maintenance of cell-free ubiquitin pools (Valero et al., 2001).[supplied by OMIM, Mar 2008]

USP26 Gene

ubiquitin specific peptidase 26

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]

USP25 Gene

ubiquitin specific peptidase 25

Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]

USP24 Gene

ubiquitin specific peptidase 24

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

USP21 Gene

ubiquitin specific peptidase 21

This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

USP20 Gene

ubiquitin specific peptidase 20

This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]

KMT2D Gene

lysine (K)-specific methyltransferase 2D

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

SCARNA9 Gene

small Cajal body-specific RNA 9

SCARNA8 Gene

small Cajal body-specific RNA 8

SCARNA7 Gene

small Cajal body-specific RNA 7

SCARNA3 Gene

small Cajal body-specific RNA 3

SCARNA1 Gene

small Cajal body-specific RNA 1

TTTY8B Gene

testis-specific transcript, Y-linked 8B (non-protein coding)

LOC654342 Gene

lymphocyte-specific protein 1 pseudogene

PDE6B Gene

phosphodiesterase 6B, cGMP-specific, rod, beta

Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]

PDE6C Gene

phosphodiesterase 6C, cGMP-specific, cone, alpha prime

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]

PDE6A Gene

phosphodiesterase 6A, cGMP-specific, rod, alpha

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

PDE6G Gene

phosphodiesterase 6G, cGMP-specific, rod, gamma

This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

PDE6D Gene

phosphodiesterase 6D, cGMP-specific, rod, delta

This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]

PDE6H Gene

phosphodiesterase 6H, cGMP-specific, cone, gamma

This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]

TTTY27P Gene

testis-specific transcript, Y-linked 27, pseudogene

USP17L17 Gene

ubiquitin specific peptidase 17-like family member 17

USP17L15 Gene

ubiquitin specific peptidase 17-like family member 15

USP17L13 Gene

ubiquitin specific peptidase 17-like family member 13

USP17L12 Gene

ubiquitin specific peptidase 17-like family member 12

USP17L11 Gene

ubiquitin specific peptidase 17-like family member 11

USP17L10 Gene

ubiquitin specific peptidase 17-like family member 10

USP17L18 Gene

ubiquitin specific peptidase 17-like family member 18

ELF3 Gene

E74-like factor 3 (ets domain transcription factor, epithelial-specific )

H1FOO Gene

H1 histone family, member O, oocyte-specific

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. The protein encoded is a member of the histone H1 family. This gene contains introns, unlike most histone genes. The protein encoded is a member of the histone H1 family. The related mouse gene is expressed only in oocytes. [provided by RefSeq, Jul 2008]

MEI4 Gene

meiosis-specific 4 homolog (S. cerevisiae)

TSPY16P Gene

testis specific protein, Y-linked 16, pseudogene

KDM3B Gene

lysine (K)-specific demethylase 3B

KDM3A Gene

lysine (K)-specific demethylase 3A

This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

TSSK6 Gene

testis-specific serine kinase 6

This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]

TSSK4 Gene

testis-specific serine kinase 4

This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

TSSK3 Gene

testis-specific serine kinase 3

This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]

HELLS Gene

helicase, lymphoid-specific

This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]

TCP11L1 Gene

t-complex 11, testis-specific-like 1

TCP11L2 Gene

t-complex 11, testis-specific-like 2

LOC100130048 Gene

H1 histone family, member O, oocyte-specific pseudogene

PLCXD3 Gene

phosphatidylinositol-specific phospholipase C, X domain containing 3

USP17L9P Gene

ubiquitin specific peptidase 17-like family member 9, pseudogene

H2BFWT Gene

H2B histone family, member W, testis-specific

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a member of the H2B histone family that is specifically expressed in sperm nuclei. A polymorphism in the 5' UTR of this gene is associated with male infertility.[provided by RefSeq, Jan 2010]

ELAVL4 Gene

ELAV like neuron-specific RNA binding protein 4

ELAVL2 Gene

ELAV like neuron-specific RNA binding protein 2

The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

ELAVL3 Gene

ELAV like neuron-specific RNA binding protein 3

A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

SLX4 Gene

SLX4 structure-specific endonuclease subunit

This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded protein acts as a docking platform for the assembly of multiple structure-specific endonucleases.[provided by RefSeq, Jan 2011]

LOC642897 Gene

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

PLCXD2 Gene

phosphatidylinositol-specific phospholipase C, X domain containing 2

PLCXD1 Gene

phosphatidylinositol-specific phospholipase C, X domain containing 1

This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

PSG10P Gene

pregnancy specific beta-1-glycoprotein 10, pseudogene

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

TSGA10IP Gene

testis specific, 10 interacting protein

LOC100499192 Gene

male-specific lethal 3 homolog (Drosophila) pseudogene

FEN1P1 Gene

flap structure-specific endonuclease 1 pseudogene 1

ESM1 Gene

endothelial cell-specific molecule 1

This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

LSP1P3 Gene

lymphocyte-specific protein 1 pseudogene 3

LOC645166 Gene

lymphocyte-specific protein 1 pseudogene

GAS8 Gene

growth arrest-specific 8

This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

GAS1 Gene

growth arrest-specific 1

Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]

GAS2 Gene

growth arrest-specific 2

The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]

GAS5 Gene

growth arrest-specific 5 (non-protein coding)

This gene produces a spliced long non-coding RNA and is a member of the 5' terminal oligo-pyrimidine class of genes. It is a small nucleolar RNA host gene, containing multiple C/D box snoRNA genes in its introns. Part of the secondary RNA structure of the encoded transcript mimics glucocorticoid response element (GRE) which means it can bind to the DNA binding domain of the glucocorticoid receptor (nuclear receptor subfamily 3, group C, member 1). This action blocks the glucocorticoid receptor from being activated and thereby stops it from regulating the transcription of its target genes. This transcript is also thought to regulate the transcriptional activity of other receptors, such as androgen, progesterone and mineralocorticoid receptors, that can bind to its GRE mimic region. Multiple functions have been associated with this transcript, including cellular growth arrest and apoptosis. It has also been identified as a potential tumor suppressor, with its down-regulation associated with cancer in multiple different tissues. [provided by RefSeq, Mar 2015]

GAS7 Gene

growth arrest-specific 7

Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]

GAS6 Gene

growth arrest-specific 6

This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]

TTTY31P Gene

testis-specific transcript, Y-linked 31, pseudogene

TSTA3 Gene

tissue specific transplantation antigen P35B

Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]

USP12P1 Gene

ubiquitin specific peptidase 12 pseudogene 1

TSPY21P Gene

testis specific protein, Y-linked 21, pseudogene

TTTY2B Gene

testis-specific transcript, Y-linked 2B (non-protein coding)

TTTY21 Gene

testis-specific transcript, Y-linked 21 (non-protein coding)

TTTY20 Gene

testis-specific transcript, Y-linked 20 (non-protein coding)

TTTY23 Gene

testis-specific transcript, Y-linked 23 (non-protein coding)

TTTY22 Gene

testis-specific transcript, Y-linked 22 (non-protein coding)

RBSG2 Gene

retinoblastoma-specific gene 2

HTATSF1P1 Gene

HIV-1 Tat specific factor 1 pseudogene 1

HTATSF1P2 Gene

HIV-1 Tat specific factor 1 pseudogene 2

GAS2L1P2 Gene

growth arrest-specific 2 like 1 pseudogene 2

LOC105379556 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

TSPY26P Gene

testis specific protein, Y-linked 26, pseudogene

PLEKHA4 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4

PLEKHA1 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]

FIQTL1 Gene

fasting glucose and specific insulin levels

TS546 Gene

Temperature sensitivity complementation, cell cycle specific

ADAR Gene

adenosine deaminase, RNA-specific

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

LOC100499191 Gene

male-specific lethal 3 homolog (Drosophila) pseudogene

PLCB1 Gene

phospholipase C, beta 1 (phosphoinositide-specific)

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PLCB3 Gene

phospholipase C, beta 3 (phosphatidylinositol-specific)

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

USP17L6P Gene

ubiquitin specific peptidase 17-like family member 6, pseudogene

LSP1 Gene

lymphocyte-specific protein 1

This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

KDM4A Gene

lysine (K)-specific demethylase 4A

This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]

TSPY15P Gene

testis specific protein, Y-linked 15, pseudogene

LOC100130550 Gene

g2/M phase-specific E3 ubiquitin-protein ligase-like

GTSF1 Gene

gametocyte specific factor 1

USP24P1 Gene

ubiquitin specific peptidase 24 pseudogene 1

EOGT Gene

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase

SCARNA6 Gene

small Cajal body-specific RNA 6

LOC100130682 Gene

ubiquitin specific peptidase 12 pseudogene

USP9YP19 Gene

ubiquitin specific peptidase 9, Y-linked pseudogene 19

MS4A3 Gene

membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)

This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

LOC100420803 Gene

lysine (K)-specific demethylase 4D pseudogene

KDM4C Gene

lysine (K)-specific demethylase 4C

This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

KDM4B Gene

lysine (K)-specific demethylase 4B

GC Gene

group-specific component (vitamin D binding protein)

The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

LOC100422285 Gene

cleavage and polyadenylation specific factor 1, 160kDa pseudogene

TSPY6P Gene

testis specific protein, Y-linked 6, pseudogene

LOC101928722 Gene

nascent polypeptide-associated complex subunit alpha, muscle-specific form-like

PAPOLB Gene

poly(A) polymerase beta (testis specific)

USP49 Gene

ubiquitin specific peptidase 49

USP48 Gene

ubiquitin specific peptidase 48

This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

USP45 Gene

ubiquitin specific peptidase 45

USP44 Gene

ubiquitin specific peptidase 44

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP44 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

USP47 Gene

ubiquitin specific peptidase 47

USP46 Gene

ubiquitin specific peptidase 46

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Jun 2009]

USP41 Gene

ubiquitin specific peptidase 41

USP40 Gene

ubiquitin specific peptidase 40

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]

USP43 Gene

ubiquitin specific peptidase 43

USP42 Gene

ubiquitin specific peptidase 42

ZUFSP Gene

zinc finger with UFM1-specific peptidase domain

LOC100420438 Gene

ubiquitin specific peptidase 12 pseudogene

LOC100420437 Gene

ubiquitin specific peptidase 12 pseudogene

EMG1 Gene

EMG1 N1-specific pseudouridine methyltransferase

This gene encodes an essential, conserved eukaryotic protein involved in ribosome biogenesis. In yeast, the related protein is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome.[provided by RefSeq, May 2010]

LOC100129955 Gene

RNA polymerase I-specific transcription initiation factor RRN3-like

USP12PX Gene

ubiquitin specific peptidase 12 pseudogene, X-linked

USP12PY Gene

ubiquitin specific peptidase 12 pseudogene, Y-linked

PHOBS Gene

Phobia, specific

CEACAM6 Gene

carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)

This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]

TSSK5P Gene

testis-specific serine kinase 5, pseudogene

PAN3 Gene

PAN3 poly(A) specific ribonuclease subunit

PAN2 Gene

PAN2 poly(A) specific ribonuclease subunit

This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

UFL1 Gene

UFM1-specific ligase 1

TSPY5P Gene

testis specific protein, Y-linked 5, pseudogene

TTTY30P Gene

testis-specific transcript, Y-linked 30, pseudogene

PLEKHA2 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2

PLEKHA3 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3

PLEKHA8 Gene

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8

SOHLH1 Gene

spermatogenesis and oogenesis specific basic helix-loop-helix 1

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

SOHLH2 Gene

spermatogenesis and oogenesis specific basic helix-loop-helix 2

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

USP8 Gene

ubiquitin specific peptidase 8

This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

USP1 Gene

ubiquitin specific peptidase 1

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

USP2 Gene

ubiquitin specific peptidase 2

This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

USP3 Gene

ubiquitin specific peptidase 3

USP4 Gene

ubiquitin specific peptidase 4 (proto-oncogene)

The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

USP5 Gene

ubiquitin specific peptidase 5 (isopeptidase T)

Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]

USP6 Gene

ubiquitin specific peptidase 6

USP7 Gene

ubiquitin specific peptidase 7 (herpes virus-associated)

HTATSF1 Gene

HIV-1 Tat specific factor 1

The protein encoded by this gene functions as a cofactor for the stimulation of transcriptional elongation by HIV-1 Tat, which binds to the HIV-1 promoter through Tat-TAR interaction. This protein may also serve as a dual-function factor to couple transcription and splicing and to facilitate their reciprocal activation. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Sep 2009]

ADAD1P2 Gene

adenosine deaminase domain containing 1 (testis-specific) pseudogene 2

ADAD1P1 Gene

adenosine deaminase domain containing 1 (testis-specific) pseudogene 1

PDE4A Gene

phosphodiesterase 4A, cAMP-specific

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

PDE4B Gene

phosphodiesterase 4B, cAMP-specific

This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

PDE4C Gene

phosphodiesterase 4C, cAMP-specific

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

PDE4D Gene

phosphodiesterase 4D, cAMP-specific

This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]

Specific Granule Deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Specific Granule Deficiency from the curated CTD Gene-Disease Associations dataset.

specific granule deficiency Gene Set

From OMIM Gene-Disease Associations

genes associated with the specific granule deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations dataset.

specific granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the specific granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

specific granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the specific granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

specific granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

specific granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the specific granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

specific granule Gene Set

From GO Cellular Component Annotations

proteins localized to the specific granule cellular component from the curated GO Cellular Component Annotations dataset.

site-specific endodeoxyribonuclease activity, specific for altered base Gene Set

From GO Molecular Function Annotations

genes performing the site-specific endodeoxyribonuclease activity, specific for altered base molecular function from the curated GO Molecular Function Annotations dataset.

factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease factor v deficiency; hypoprothrombinemias; protein c deficiency; protein s deficiency; pulmonary embolism; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome Gene Set

From GAD Gene-Disease Associations

genes associated with the disease antithrombin iii deficiency; gastrointestinal hemorrhage; protein c deficiency; protein s deficiency; splenomegaly; thrombophilia; turner syndrome; venous thrombosis; xo syndrome in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; antithrombin iii deficiency; pregnancy complications, hematologic; protein c deficiency; protein s deficiency; puerperal disorders; pulmonary embolism; pulmonary embolisms; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Birbeck granule deficiency Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Birbeck granule deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

?[birbeck granule deficiency] Gene Set

From OMIM Gene-Disease Associations

genes associated with the ?[birbeck granule deficiency] phenotype from the curated OMIM Gene-Disease Associations dataset.

specific antibody deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the specific antibody deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

specific anti-polysaccharide antibody deficiency Gene Set

From HPO Gene-Disease Associations

genes associated with the specific anti-polysaccharide antibody deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Neuraminidase deficiency with beta-galactosidase deficiency Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Neuraminidase deficiency with beta-galactosidase deficiency from the curated CTD Gene-Disease Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease eclampsia; pre-eclampsia; protein c deficiency; protein s deficiency; thrombophilia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders, inherited; protein c deficiency; protein s deficiency; thrombophilia; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease blood coagulation disorders; protein c deficiency; protein s deficiency; pulmonary embolism; pulmonary embolisms; thrombosis; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; tuberculosis, pulmonary in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; fractures, bone; osteoporosis, postmenopausal; riboflavin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease activated protein c resistance; blood coagulation disorders; liver diseases; protein c deficiency; protein s deficiency; thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia; iron overload 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.

folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; pregnancy complications; prenatal exposure delayed effects; psychomotor disorders; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; beta thalassemia; beta-thalassemia; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

protein c deficiency; protein s deficiency; venous thrombosis Gene Set

From GAD Gene-Disease Associations

genes associated with the disease protein c deficiency; protein s deficiency; venous thrombosis in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease folic acid deficiency; hyperhomocysteinemia; thromboembolism; venous insufficiency; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; iron deficiency anaemia; iron overload Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; iron deficiency anaemia; iron overload in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism Gene Set

From GAD Gene-Disease Associations

genes associated with the disease neoplasms; protein c deficiency; protein s deficiency; venous thromboembolism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia Gene Set

From GAD Gene-Disease Associations

genes associated with the disease anemia, iron-deficiency; hemochromatosis; iron deficiency anaemia in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chronic renal failure; folic acid deficiency; hyperhomocysteinemia; kidney failure, chronic; vitamin b 12 deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective GSS causes Glutathione synthetase deficiency (GSS deficiency) pathway from the Reactome Pathways dataset.

Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) pathway from the Reactome Pathways dataset.

Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) Gene Set

From Reactome Pathways

proteins participating in the Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) pathway from the Reactome Pathways dataset.

granule cell layer of the DG Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in granule cell layer of the DG relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Dentate gyrus, granule cell layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Dentate gyrus, granule cell layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Main olfactory bulb, granule layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Main olfactory bulb, granule layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

chromaffin granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromaffin granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cortical granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cortical granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

glycogen granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the glycogen granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

p granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the p granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

azurophil granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the azurophil granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

zymogen granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the zymogen granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

pigment granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the pigment granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dense core granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dense core granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mast cell granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mast cell granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic stress granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic stress granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromaffin granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromaffin granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

azurophil granule lumen Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the azurophil granule lumen cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

zymogen granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the zymogen granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

dense core granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the dense core granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear stress granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear stress granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

tertiary granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the tertiary granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

tertiary granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the tertiary granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

secretory granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the secretory granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet alpha granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet alpha granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

platelet dense granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the platelet dense granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the neuronal ribonucleoprotein granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

chromaffin granule membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the chromaffin granule membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytolytic granule Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytolytic granule cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cortical granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

glycogen granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

cytoplasmic ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytoplasmic ribonucleoprotein granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet alpha granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet alpha granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

p granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

yolk granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

secretory granule lumen Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secretory granule lumen cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet dense granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet dense granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

azurophil granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the azurophil granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

azurophil granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

proteasome storage granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the proteasome storage granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

zymogen granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

pigment granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

merozoite dense granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the merozoite dense granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

secretory granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

dense core granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dense core granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mast cell granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mast cell granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

dense core granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the dense core granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

pha granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

nuclear stress granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear stress granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytoplasmic stress granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytoplasmic stress granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

zymogen granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the zymogen granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

tertiary granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

secretory granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the secretory granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

platelet alpha granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet alpha granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

interchromatin granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

chromaffin granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

platelet dense granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the platelet dense granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

neuronal ribonucleoprotein granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the neuronal ribonucleoprotein granule cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chromaffin granule membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chromaffin granule membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

cytolytic granule Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

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

granule Gene Set

From GeneRIF Biological Term Annotations

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

CSTB_KO_GDS5089_486_mouse_Cerebellum and granule neurons Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5089_486_mouse_Cerebellum and granule neurons gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GDS5091_23_mouse_cerebellar granule Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5091_23_mouse_cerebellar granule gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GSE47516_18_mouse_brain (P7 cerebellum, P30 cerebellum, cerebellar granule cells) Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GSE47516_18_mouse_brain (P7 cerebellum, P30 cerebellum, cerebellar granule cells) gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GDS5089_565_mouse_cerebellum and granule neurons Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5089_565_mouse_cerebellum and granule neurons gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

CSTB_KO_GDS5090_200_mouse_Cerebellar granule cells Gene Set

From GEO Signatures of Differentially Expressed Genes for Gene Perturbations

genes differentially expressed following the CSTB_KO_GDS5090_200_mouse_Cerebellar granule cells gene perturbation from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.

regulation of cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

secretory granule organization Gene Set

From GO Biological Process Annotations

genes participating in the secretory granule organization biological process from the curated GO Biological Process Annotations dataset.

eye pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the eye pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

endosome to pigment granule transport Gene Set

From GO Biological Process Annotations

genes participating in the endosome to pigment granule transport biological process from the curated GO Biological Process Annotations dataset.

pigment granule maturation Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule maturation biological process from the curated GO Biological Process Annotations dataset.

stress granule assembly Gene Set

From GO Biological Process Annotations

genes participating in the stress granule assembly biological process from the curated GO Biological Process Annotations dataset.

negative regulation of dense core granule biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of dense core granule biogenesis biological process from the curated GO Biological Process Annotations dataset.

secretory granule localization Gene Set

From GO Biological Process Annotations

genes participating in the secretory granule localization biological process from the curated GO Biological Process Annotations dataset.

cell proliferation in external granule layer Gene Set

From GO Biological Process Annotations

genes participating in the cell proliferation in external granule layer biological process from the curated GO Biological Process Annotations dataset.

regulation of dense core granule biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the regulation of dense core granule biogenesis biological process from the curated GO Biological Process Annotations dataset.

cerebellar granule cell precursor tangential migration Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar granule cell precursor tangential migration biological process from the curated GO Biological Process Annotations dataset.

maintenance of protease location in mast cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protease location in mast cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

pigment granule transport Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule transport biological process from the curated GO Biological Process Annotations dataset.

maintenance of granzyme b location in t cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of granzyme b location in t cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

zymogen granule exocytosis Gene Set

From GO Biological Process Annotations

genes participating in the zymogen granule exocytosis biological process from the curated GO Biological Process Annotations dataset.

dense core granule maturation Gene Set

From GO Biological Process Annotations

genes participating in the dense core granule maturation biological process from the curated GO Biological Process Annotations dataset.

mast cell secretory granule organization Gene Set

From GO Biological Process Annotations

genes participating in the mast cell secretory granule organization biological process from the curated GO Biological Process Annotations dataset.

maintenance of protein location in t cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protein location in t cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

t cell secretory granule organization Gene Set

From GO Biological Process Annotations

genes participating in the t cell secretory granule organization biological process from the curated GO Biological Process Annotations dataset.

negative regulation of cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

p granule organization Gene Set

From GO Biological Process Annotations

genes participating in the p granule organization biological process from the curated GO Biological Process Annotations dataset.

establishment of pigment granule localization Gene Set

From GO Biological Process Annotations

genes participating in the establishment of pigment granule localization biological process from the curated GO Biological Process Annotations dataset.

maintenance of protease location in t cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protease location in t cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

platelet dense granule organization Gene Set

From GO Biological Process Annotations

genes participating in the platelet dense granule organization biological process from the curated GO Biological Process Annotations dataset.

cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

stress granule disassembly Gene Set

From GO Biological Process Annotations

genes participating in the stress granule disassembly biological process from the curated GO Biological Process Annotations dataset.

radial glia guided migration of cerebellar granule cell Gene Set

From GO Biological Process Annotations

genes participating in the radial glia guided migration of cerebellar granule cell biological process from the curated GO Biological Process Annotations dataset.

smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of cerebellar granule cell precursor proliferation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of cerebellar granule cell precursor proliferation biological process from the curated GO Biological Process Annotations dataset.

platelet alpha granule organization Gene Set

From GO Biological Process Annotations

genes participating in the platelet alpha granule organization biological process from the curated GO Biological Process Annotations dataset.

cerebellar granule cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the cerebellar granule cell differentiation biological process from the curated GO Biological Process Annotations dataset.

pigment granule aggregation in cell center Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule aggregation in cell center biological process from the curated GO Biological Process Annotations dataset.

pigment granule organization Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule organization biological process from the curated GO Biological Process Annotations dataset.

maintenance of protein location in mast cell secretory granule Gene Set

From GO Biological Process Annotations

genes participating in the maintenance of protein location in mast cell secretory granule biological process from the curated GO Biological Process Annotations dataset.

golgi to secretory granule transport Gene Set

From GO Biological Process Annotations

genes participating in the golgi to secretory granule transport biological process from the curated GO Biological Process Annotations dataset.

positive regulation of dense core granule biogenesis Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of dense core granule biogenesis biological process from the curated GO Biological Process Annotations dataset.

pigment granule localization Gene Set

From GO Biological Process Annotations

genes participating in the pigment granule localization biological process from the curated GO Biological Process Annotations dataset.

chromaffin granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the chromaffin granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

cortical granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cortical granule cellular component from the curated GO Cellular Component Annotations dataset.

ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations

proteins localized to the ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations dataset.

glycogen granule Gene Set

From GO Cellular Component Annotations

proteins localized to the glycogen granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

cytoplasmic ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

p granule Gene Set

From GO Cellular Component Annotations

proteins localized to the p granule cellular component from the curated GO Cellular Component Annotations dataset.

keratohyalin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the keratohyalin granule cellular component from the curated GO Cellular Component Annotations dataset.

secretory granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the secretory granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

azurophil granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the azurophil granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

azurophil granule Gene Set

From GO Cellular Component Annotations

proteins localized to the azurophil granule cellular component from the curated GO Cellular Component Annotations dataset.

zymogen granule Gene Set

From GO Cellular Component Annotations

proteins localized to the zymogen granule cellular component from the curated GO Cellular Component Annotations dataset.

pigment granule Gene Set

From GO Cellular Component Annotations

proteins localized to the pigment granule cellular component from the curated GO Cellular Component Annotations dataset.

secretory granule Gene Set

From GO Cellular Component Annotations

proteins localized to the secretory granule cellular component from the curated GO Cellular Component Annotations dataset.

dense core granule Gene Set

From GO Cellular Component Annotations

proteins localized to the dense core granule cellular component from the curated GO Cellular Component Annotations dataset.

mast cell granule Gene Set

From GO Cellular Component Annotations

proteins localized to the mast cell granule cellular component from the curated GO Cellular Component Annotations dataset.

dense core granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the dense core granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

mucin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the mucin granule cellular component from the curated GO Cellular Component Annotations dataset.

cytoplasmic stress granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic stress granule cellular component from the curated GO Cellular Component Annotations dataset.

chromaffin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the chromaffin granule cellular component from the curated GO Cellular Component Annotations dataset.

azurophil granule lumen Gene Set

From GO Cellular Component Annotations

proteins localized to the azurophil granule lumen cellular component from the curated GO Cellular Component Annotations dataset.

zymogen granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the zymogen granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

nuclear stress granule Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear stress granule cellular component from the curated GO Cellular Component Annotations dataset.

tertiary granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the tertiary granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

tertiary granule Gene Set

From GO Cellular Component Annotations

proteins localized to the tertiary granule cellular component from the curated GO Cellular Component Annotations dataset.

secretory granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the secretory granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

platelet alpha granule Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet alpha granule cellular component from the curated GO Cellular Component Annotations dataset.

interchromatin granule Gene Set

From GO Cellular Component Annotations

proteins localized to the interchromatin granule cellular component from the curated GO Cellular Component Annotations dataset.

platelet dense granule Gene Set

From GO Cellular Component Annotations

proteins localized to the platelet dense granule cellular component from the curated GO Cellular Component Annotations dataset.

neuronal ribonucleoprotein granule Gene Set

From GO Cellular Component Annotations

proteins localized to the neuronal ribonucleoprotein granule cellular component from the curated GO Cellular Component Annotations dataset.

chromaffin granule membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the chromaffin granule membrane cellular component from the curated GO Cellular Component Annotations dataset.

cytolytic granule Gene Set

From GO Cellular Component Annotations

proteins localized to the cytolytic granule cellular component from the curated GO Cellular Component Annotations dataset.

pigment granule Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the pigment granule cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

secretory granule Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the secretory granule cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

abnormal pancreatic acinar cell zymogen granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal pancreatic acinar cell zymogen granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal olfactory bulb granule cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal olfactory bulb granule cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased keratohyalin granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased keratohyalin granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellum external granule cell layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellum external granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased keratohyalin granule size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased keratohyalin granule size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased cerebellar granule cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased cerebellar granule cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent cerebellar granule cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent cerebellar granule cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent pancreatic acinar cell zymogen granule Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent pancreatic acinar cell zymogen granule phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased keratohyalin granule size Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased keratohyalin granule size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin cerebellar granule layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin cerebellar granule layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellar granule layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair follicle melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair follicle melanin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair shaft melanin granule distribution Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair shaft melanin granule distribution phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased somatotroph secretory granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased somatotroph secretory granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellar granule cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair shaft melanin granule shape Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair shaft melanin granule shape phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

pancreatic acinar cell zymogen granule accumulation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the pancreatic acinar cell zymogen granule accumulation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

delaminated cerebellar granule layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the delaminated cerebellar granule layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hippocampus granule cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hippocampus granule cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

ectopic cerebellar granule cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the ectopic cerebellar granule cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair follicle melanin granule distribution Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair follicle melanin granule distribution phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

reduced hair shaft melanin granule number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the reduced hair shaft melanin granule number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal keratohyalin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal keratohyalin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule cell migration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellar granule cell migration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair shaft melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair shaft melanin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hippocampus granule cell layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hippocampus granule cell layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal platelet dense granule physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal platelet dense granule physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal olfactory bulb granule cell layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal olfactory bulb granule cell layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal choroid melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal choroid melanin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent cerebellar granule layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent cerebellar granule layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cerebellar granule cell proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cerebellar granule cell proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin external granule cell layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin external granule cell layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal melanin granule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal melanin granule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cerebral granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebral granule cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

cerebellar granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue cerebellar granule cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

granule cell layer Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue granule cell layer in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

granule cell Gene Set

From TISSUES Text-mining Tissue Protein Expression Evidence Scores

proteins co-occuring with the tissue granule cell in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.

micropexophagy-specific membrane apparatus Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the micropexophagy-specific membrane apparatus cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

SMN complex, U7 snRNA specific Gene Set

From CORUM Protein Complexes

proteins in the SMN complex, U7 snRNA specific protein complex from the CORUM Protein Complexes dataset.

S-phase-specific E2F-p107 complex Gene Set

From CORUM Protein Complexes

proteins in the S-phase-specific E2F-p107 complex protein complex from the CORUM Protein Complexes dataset.

Acinar cell-specific C complex Gene Set

From CORUM Protein Complexes

proteins in the Acinar cell-specific C complex protein complex from the CORUM Protein Complexes dataset.

TFIID subcomplex, testis-specific Gene Set

From CORUM Protein Complexes

proteins in the TFIID subcomplex, testis-specific protein complex from the CORUM Protein Complexes dataset.

CCT complex (chaperonin containing TCP1 complex), testis specific Gene Set

From CORUM Protein Complexes

proteins in the CCT complex (chaperonin containing TCP1 complex), testis specific protein complex from the CORUM Protein Complexes dataset.

TFIID complex, B-cell specific Gene Set

From CORUM Protein Complexes

proteins in the TFIID complex, B-cell specific protein complex from the CORUM Protein Complexes dataset.

SPECIFIC LANGUAGE IMPAIRMENT 2 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPECIFIC LANGUAGE IMPAIRMENT 2 from the curated CTD Gene-Disease Associations dataset.

Phobia, Specific Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Phobia, Specific from the curated CTD Gene-Disease Associations dataset.

SPECIFIC LANGUAGE IMPAIRMENT 3 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPECIFIC LANGUAGE IMPAIRMENT 3 from the curated CTD Gene-Disease Associations dataset.

Specific Language Impairment 4 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Specific Language Impairment 4 from the curated CTD Gene-Disease Associations dataset.

SPECIFIC LANGUAGE IMPAIRMENT 1 Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease SPECIFIC LANGUAGE IMPAIRMENT 1 from the curated CTD Gene-Disease Associations dataset.

Lynch syndrome I (site-specific colonic cancer) Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Lynch syndrome I (site-specific colonic cancer) from the curated CTD Gene-Disease Associations dataset.

Prostate-Specific Antigen Gene Set

From dbGAP Gene-Trait Associations

genes associated with the trait Prostate-Specific Antigen in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

specific developmental disorder Gene Set

From DISEASES Curated Gene-Disease Assocation Evidence Scores

genes involed in the disease specific developmental disorder from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

specific developmental disorder Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease specific developmental disorder in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

specific phobia Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease specific phobia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

non-specific x-linked mental retardation Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease non-specific x-linked mental retardation in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

specific bursitis often of occupational origin Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease specific bursitis often of occupational origin in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

specific developmental disorder Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease specific developmental disorder in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

atopy (total & specific ige) Gene Set

From GAD Gene-Disease Associations

genes associated with the disease atopy (total & specific ige) in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate specific antigen Gene Set

From GAD Gene-Disease Associations

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

specific levels of lp(a) in plasma Gene Set

From GAD Gene-Disease Associations

genes associated with the disease specific levels of lp(a) in plasma in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

paraoxonase-1 specific activity Gene Set

From GAD Gene-Disease Associations

genes associated with the disease paraoxonase-1 specific activity in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate-specific antigen Gene Set

From GAD Gene-Disease Associations

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

total serum ige. specific ige. ar Gene Set

From GAD Gene-Disease Associations

genes associated with the disease total serum ige. specific ige. ar in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

nutrient-specific food intake Gene Set

From GAD Gene-Disease Associations

genes associated with the disease nutrient-specific food intake in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

high or low factor xiii specific activity. Gene Set

From GAD Gene-Disease Associations

genes associated with the disease high or low factor xiii specific activity. in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate-specific antigen levels Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prostate-specific antigen levels in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

testosterone; prostate specific antigen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease testosterone; prostate specific antigen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

prostate cancer; prostate specific antigen Gene Set

From GAD Gene-Disease Associations

genes associated with the disease prostate cancer; prostate specific antigen in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

specific Gene Set

From GeneRIF Biological Term Annotations

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

positive regulation of sequence-specific dna binding transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of sequence-specific dna binding transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

negative regulation of sequence-specific dna binding transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of sequence-specific dna binding transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

regulation of rna polymerase ii regulatory region sequence-specific dna binding Gene Set

From GO Biological Process Annotations

genes participating in the regulation of rna polymerase ii regulatory region sequence-specific dna binding biological process from the curated GO Biological Process Annotations dataset.

negative regulation of rna polymerase ii regulatory region sequence-specific dna binding Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of rna polymerase ii regulatory region sequence-specific dna binding biological process from the curated GO Biological Process Annotations dataset.

positive regulation of lys63-specific deubiquitinase activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of lys63-specific deubiquitinase activity biological process from the curated GO Biological Process Annotations dataset.

organ or tissue specific immune response Gene Set

From GO Biological Process Annotations

genes participating in the organ or tissue specific immune response biological process from the curated GO Biological Process Annotations dataset.

ufp-specific transcription factor mrna processing involved in endoplasmic reticulum unfolded protein response Gene Set

From GO Biological Process Annotations

genes participating in the ufp-specific transcription factor mrna processing involved in endoplasmic reticulum unfolded protein response biological process from the curated GO Biological Process Annotations dataset.

negative regulation of ubiquitin-specific protease activity Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of ubiquitin-specific protease activity biological process from the curated GO Biological Process Annotations dataset.

histone h3-k4 demethylation, trimethyl-h3-k4-specific Gene Set

From GO Biological Process Annotations

genes participating in the histone h3-k4 demethylation, trimethyl-h3-k4-specific biological process from the curated GO Biological Process Annotations dataset.

commitment of neuronal cell to specific neuron type in forebrain Gene Set

From GO Biological Process Annotations

genes participating in the commitment of neuronal cell to specific neuron type in forebrain biological process from the curated GO Biological Process Annotations dataset.

positive regulation of ubiquitin-specific protease activity Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of ubiquitin-specific protease activity biological process from the curated GO Biological Process Annotations dataset.

plus-end specific microtubule depolymerization Gene Set

From GO Biological Process Annotations

genes participating in the plus-end specific microtubule depolymerization biological process from the curated GO Biological Process Annotations dataset.

regulation of sequence-specific dna binding transcription factor activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of sequence-specific dna binding transcription factor activity biological process from the curated GO Biological Process Annotations dataset.

regulation of ubiquitin-specific protease activity Gene Set

From GO Biological Process Annotations

genes participating in the regulation of ubiquitin-specific protease activity biological process from the curated GO Biological Process Annotations dataset.

cell-type specific apoptotic process Gene Set

From GO Biological Process Annotations

genes participating in the cell-type specific apoptotic process biological process from the curated GO Biological Process Annotations dataset.

pyrimidine-specific mismatch base pair dna n-glycosylase activity Gene Set

From GO Molecular Function Annotations

genes performing the pyrimidine-specific mismatch base pair dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-specific protease binding Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-specific protease binding molecular function from the curated GO Molecular Function Annotations dataset.

substrate-specific transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-s10 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-s10 specific) molecular function from the curated GO Molecular Function Annotations dataset.

double-stranded rna-specific ribonuclease activity Gene Set

From GO Molecular Function Annotations

genes performing the double-stranded rna-specific ribonuclease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-r2 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-r2 specific) molecular function from the curated GO Molecular Function Annotations dataset.

transcription termination site sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the transcription termination site sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

nad(p)+ transhydrogenase (ab-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the nad(p)+ transhydrogenase (ab-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-y41 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-y41 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k79 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k79 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ligand-activated sequence-specific dna binding rna polymerase ii transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the ligand-activated sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h4-r3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h4-r3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii sequence-specific dna binding transcription factor binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii sequence-specific dna binding transcription factor binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity Gene Set

From GO Molecular Function Annotations

genes performing the transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity molecular function from the curated GO Molecular Function Annotations dataset.

transcription regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the transcription regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-r2 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-r2 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

hla-a specific inhibitory mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-a specific inhibitory mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-r17 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-r17 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

trna-specific adenosine deaminase activity Gene Set

From GO Molecular Function Annotations

genes performing the trna-specific adenosine deaminase activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

intronic transcription regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the intronic transcription regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, a-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii transcription regulatory region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k27 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k27 specific) molecular function from the curated GO Molecular Function Annotations dataset.

sumo-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the sumo-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

poly(a)-specific ribonuclease activity Gene Set

From GO Molecular Function Annotations

genes performing the poly(a)-specific ribonuclease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-trimethyl-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-trimethyl-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

n-acylphosphatidylethanolamine-specific phospholipase d activity Gene Set

From GO Molecular Function Annotations

genes performing the n-acylphosphatidylethanolamine-specific phospholipase d activity molecular function from the curated GO Molecular Function Annotations dataset.

hla-b specific inhibitory mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-b specific inhibitory mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone deacetylase activity (h4-k16 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone deacetylase activity (h4-k16 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h2a-t120 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h2a-t120 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-t3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-t3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h3-k14 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h3-k14 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter sequence-specific dna binding transcription factor activity involved in preinitiation complex assembly Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter sequence-specific dna binding transcription factor activity involved in preinitiation complex assembly molecular function from the curated GO Molecular Function Annotations dataset.

core promoter sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the core promoter sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific transcription regulatory region dna binding rna polymerase ii transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific transcription regulatory region dna binding rna polymerase ii transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h4-r3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h4-r3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k36 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k36 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-like protein-specific isopeptidase activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-like protein-specific isopeptidase activity molecular function from the curated GO Molecular Function Annotations dataset.

isg15-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the isg15-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-t11 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-t11 specific) molecular function from the curated GO Molecular Function Annotations dataset.

adp-specific glucokinase activity Gene Set

From GO Molecular Function Annotations

genes performing the adp-specific glucokinase activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding transcription factor recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding transcription factor recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k5 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k5 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase i core element sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase i core element sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

hla-a specific activating mhc class i receptor activity Gene Set

From GO Molecular Function Annotations

genes performing the hla-a specific activating mhc class i receptor activity molecular function from the curated GO Molecular Function Annotations dataset.

nedd8-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the nedd8-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k27 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k27 specific) molecular function from the curated GO Molecular Function Annotations dataset.

substrate-specific transmembrane transporter activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific transmembrane transporter activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding rna polymerase ii transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in positive regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h4-k20 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h4-k20 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding rna polymerase recruiting transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding rna polymerase recruiting transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

trna-specific ribonuclease activity Gene Set

From GO Molecular Function Annotations

genes performing the trna-specific ribonuclease activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

purine-specific nucleoside:sodium symporter activity Gene Set

From GO Molecular Function Annotations

genes performing the purine-specific nucleoside:sodium symporter activity molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h4-k16 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h4-k16 specific) molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-monomethyl-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-monomethyl-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

androsterone dehydrogenase (b-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the androsterone dehydrogenase (b-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the enoyl-[acyl-carrier-protein] reductase (nadph, b-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii core promoter proximal region sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii intronic transcription regulatory region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii intronic transcription regulatory region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

lys63-specific deubiquitinase activity Gene Set

From GO Molecular Function Annotations

genes performing the lys63-specific deubiquitinase activity molecular function from the curated GO Molecular Function Annotations dataset.

sumo-specific isopeptidase activity Gene Set

From GO Molecular Function Annotations

genes performing the sumo-specific isopeptidase activity molecular function from the curated GO Molecular Function Annotations dataset.

core promoter proximal region sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the core promoter proximal region sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

nad(p)+ transhydrogenase (b-specific) activity Gene Set

From GO Molecular Function Annotations

genes performing the nad(p)+ transhydrogenase (b-specific) activity molecular function from the curated GO Molecular Function Annotations dataset.

histone deacetylase activity (h3-k14 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone deacetylase activity (h3-k14 specific) molecular function from the curated GO Molecular Function Annotations dataset.

pyrimidine- and adenine-specific:sodium symporter activity Gene Set

From GO Molecular Function Annotations

genes performing the pyrimidine- and adenine-specific:sodium symporter activity molecular function from the curated GO Molecular Function Annotations dataset.

direct ligand regulated sequence-specific dna binding transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the direct ligand regulated sequence-specific dna binding transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-dimethyl-k4 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-dimethyl-k4 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone kinase activity (h3-t6 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone kinase activity (h3-t6 specific) molecular function from the curated GO Molecular Function Annotations dataset.

enhancer sequence-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the enhancer sequence-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k12 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k12 specific) molecular function from the curated GO Molecular Function Annotations dataset.

translation release factor activity, codon specific Gene Set

From GO Molecular Function Annotations

genes performing the translation release factor activity, codon specific molecular function from the curated GO Molecular Function Annotations dataset.

purine-specific mismatch base pair dna n-glycosylase activity Gene Set

From GO Molecular Function Annotations

genes performing the purine-specific mismatch base pair dna n-glycosylase activity molecular function from the curated GO Molecular Function Annotations dataset.

rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription Gene Set

From GO Molecular Function Annotations

genes performing the rna polymerase ii distal enhancer sequence-specific dna binding transcription factor activity involved in negative regulation of transcription molecular function from the curated GO Molecular Function Annotations dataset.

sequence-specific dna binding rna polymerase i transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the sequence-specific dna binding rna polymerase i transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

ubiquitin-like protein-specific protease activity Gene Set

From GO Molecular Function Annotations

genes performing the ubiquitin-like protein-specific protease activity molecular function from the curated GO Molecular Function Annotations dataset.

protein domain specific binding Gene Set

From GO Molecular Function Annotations

genes performing the protein domain specific binding molecular function from the curated GO Molecular Function Annotations dataset.

histone demethylase activity (h3-k36 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone demethylase activity (h3-k36 specific) molecular function from the curated GO Molecular Function Annotations dataset.

substrate-specific channel activity Gene Set

From GO Molecular Function Annotations

genes performing the substrate-specific channel activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h4-k20 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h4-k20 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone deacetylase activity (h3-k9 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone deacetylase activity (h3-k9 specific) molecular function from the curated GO Molecular Function Annotations dataset.

lys48-specific deubiquitinase activity Gene Set

From GO Molecular Function Annotations

genes performing the lys48-specific deubiquitinase activity molecular function from the curated GO Molecular Function Annotations dataset.

histone methyltransferase activity (h2a-r3 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone methyltransferase activity (h2a-r3 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k8 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k8 specific) molecular function from the curated GO Molecular Function Annotations dataset.

estrogen-activated sequence-specific dna binding rna polymerase ii transcription factor activity Gene Set

From GO Molecular Function Annotations

genes performing the estrogen-activated sequence-specific dna binding rna polymerase ii transcription factor activity molecular function from the curated GO Molecular Function Annotations dataset.

structure-specific dna binding Gene Set

From GO Molecular Function Annotations

genes performing the structure-specific dna binding molecular function from the curated GO Molecular Function Annotations dataset.

nad-dependent histone deacetylase activity (h3-k18 specific) Gene Set

From GO Molecular Function Annotations

genes performing the nad-dependent histone deacetylase activity (h3-k18 specific) molecular function from the curated GO Molecular Function Annotations dataset.

histone acetyltransferase activity (h4-k16 specific) Gene Set

From GO Molecular Function Annotations

genes performing the histone acetyltransferase activity (h4-k16 specific) molecular function from the curated GO Molecular Function Annotations dataset.

IgE levels in asthmatics (D.f. specific) Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the IgE levels in asthmatics (D.f. specific) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Serum prostate-specific antigen levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Serum prostate-specific antigen levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Prostate-specific antigen levels Gene Set

From GWAS Catalog SNP-Phenotype Associations

genes associated with the Prostate-specific antigen levels phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

specific developmental disorder Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease specific developmental disorder in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

specific learning disability Gene Set

From GWASdb SNP-Phenotype Associations

genes associated with the specific learning disability phenotype in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.

absent neutrophil specific granules Gene Set

From HPO Gene-Disease Associations

genes associated with the absent neutrophil specific granules phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

specific learning disability Gene Set

From HPO Gene-Disease Associations

genes associated with the specific learning disability phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent specific antibody response Gene Set

From HPO Gene-Disease Associations

genes associated with the absent specific antibody response phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

elevated tissue non-specific alkaline phosphatase Gene Set

From HPO Gene-Disease Associations

genes associated with the elevated tissue non-specific alkaline phosphatase phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Lysine-specific demethylase 6B Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Lysine-specific demethylase 6B protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis-specific gene 13 protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis-specific gene 13 protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Meiosis-specific nuclear structural protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Meiosis-specific nuclear structural protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

tRNA-specific 2-thiouridylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the tRNA-specific 2-thiouridylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Purine nucleoside phosphorylase I, inosine/guanosine-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Purine nucleoside phosphorylase I, inosine/guanosine-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Caldesmon/lymphocyte specific protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Caldesmon/lymphocyte specific protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Flap structure-specific endonuclease Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flap structure-specific endonuclease protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Testis-specific TEX28 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Testis-specific TEX28 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

GPCR, family 2, brain-specific angiogenesis inhibitor Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the GPCR, family 2, brain-specific angiogenesis inhibitor protein domain from the InterPro Predicted Protein Domain Annotations dataset.

TGF beta-induced protein bIGH3/osteoblast-specific factor 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the TGF beta-induced protein bIGH3/osteoblast-specific factor 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neural retina-specific leucine zipper protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neural retina-specific leucine zipper protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

C1GALT1-specific chaperone 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the C1GALT1-specific chaperone 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Retinal-specific ATP-binding cassette transporter Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Retinal-specific ATP-binding cassette transporter protein domain from the InterPro Predicted Protein Domain Annotations dataset.

POU-specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the POU-specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

M-phase-specific PLK1-interacting protein-like, vertebrate Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the M-phase-specific PLK1-interacting protein-like, vertebrate protein domain from the InterPro Predicted Protein Domain Annotations dataset.

SUMO-specific isopeptidase USPL1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the SUMO-specific isopeptidase USPL1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase I, Rpa2 specific Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase I, Rpa2 specific protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Ubiquitin specific protease, conserved site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Ubiquitin specific protease, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Histone lysine-specific demethylase Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Histone lysine-specific demethylase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

M-phase-specific PLK1-interacting protein-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the M-phase-specific PLK1-interacting protein-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dual specificity testis-specific protein kinase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dual specificity testis-specific protein kinase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peroxisomal testis-specific protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peroxisomal testis-specific protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase C19, ubiquitin-specific peptidase, DUSP domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase C19, ubiquitin-specific peptidase, DUSP domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

RNA polymerase I specific transcription initiation factor RRN3 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the RNA polymerase I specific transcription initiation factor RRN3 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Structure-specific recognition protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Structure-specific recognition protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Dendritic cell-specific transmembrane protein-like Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dendritic cell-specific transmembrane protein-like protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Tubulin-specific chaperone C Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Tubulin-specific chaperone C protein domain from the InterPro Predicted Protein Domain Annotations dataset.

D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

DNA/RNA non-specific endonuclease, active site Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the DNA/RNA non-specific endonuclease, active site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cap-specific mRNA (nucleoside-2-O-)-methyltransferase 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Sperm-specific antigen 2, C-terminal Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Sperm-specific antigen 2, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Double-stranded RNA-specific adenosine deaminase (DRADA) Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Double-stranded RNA-specific adenosine deaminase (DRADA) protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Neuroendocrine-specific golgi P55 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Neuroendocrine-specific golgi P55 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phospholipase C, phosphatidylinositol-specific , X domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phospholipase C, phosphatidylinositol-specific , X domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Cattle cerebrum and skeletal muscle-specific protein 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cattle cerebrum and skeletal muscle-specific protein 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Peptidase C78, ubiquitin fold modifier-specific peptidase 1/ 2 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Peptidase C78, ubiquitin fold modifier-specific peptidase 1/ 2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Phospholipase C, phosphatidylinositol-specific, Y domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Phospholipase C, phosphatidylinositol-specific, Y domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Calcyon neuron-specific vesicular protein Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Calcyon neuron-specific vesicular protein protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Hematopoietic lineage cell-