Name

ESCAPE Omics Signatures trong>trong>oftrong>trong> Genes and Proteins for Stem trong>Celltrong>s Dataset

From ESCAPE

sets trong>trong>oftrong>trong> target genes trong>trong>oftrong>trong> transcription factors from published ChIP-chip, ChIP-seq, and other transcription factor binding site prtrong>trong>oftrong>trong>iling studies;sets trong>trong>oftrong>trong> differentially expressed genes following perturbation trong>trong>oftrong>trong> a protein from gene expression data in GEO; sets trong>trong>oftrong>trong> interacting proteins from high- and low-throughput protein-protein interaction studies; sets trong>trong>oftrong>trong> targets trong>trong>oftrong>trong> microRNAs from public databases, computationally predicted or experimentally verified

Achilles trong>Celltrong> Line Gene Essentiality Prtrong>trong>oftrong>trong>iles Dataset

From Achilles

fitness scores for trong>celltrong> lines following single gene knockdowns

BioGPS trong>Celltrong> Line Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From BioGPS

mRNA expression prtrong>trong>oftrong>trong>iles for the NCI-60 panel trong>trong>oftrong>trong> cancer trong>celltrong> lines

BioGPS Human trong>Celltrong> Type and Tissue Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From BioGPS

mRNA expression prtrong>trong>oftrong>trong>iles for human tissues and trong>celltrong> types

BioGPS Mouse trong>Celltrong> Type and Tissue Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From BioGPS

mRNA expression prtrong>trong>oftrong>trong>iles for mouse tissues and trong>celltrong> types

CCLE trong>Celltrong> Line Gene CNV Prtrong>trong>oftrong>trong>iles Dataset

From Cancer trong>Celltrong> Line Encyclopedia

gene-level copy number variation prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

CCLE trong>Celltrong> Line Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From Cancer trong>Celltrong> Line Encyclopedia

mRNA expression prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

CCLE trong>Celltrong> Line Gene Mutation Prtrong>trong>oftrong>trong>iles Dataset

From Cancer trong>Celltrong> Line Encyclopedia

gene-level mutation prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

COSMIC trong>Celltrong> Line Gene CNV Prtrong>trong>oftrong>trong>iles Dataset

From Catalogue trong>trong>oftrong>trong> Somatic Mutations In Cancer

gene-level copy number variation prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

COSMIC trong>Celltrong> Line Gene Mutation Prtrong>trong>oftrong>trong>iles Dataset

From Catalogue trong>trong>oftrong>trong> Somatic Mutations In Cancer

gene mutations in cancer trong>celltrong> lines from low-throughput or high-throughput studies

GDSC trong>Celltrong> Line Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From Genomics trong>trong>oftrong>trong> Drug Sensitivity in Cancer

mRNA expression prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

Heiser et al., PNAS, 2011 trong>Celltrong> Line Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From Heiser et al., PNAS, 2011

mRNA expression prtrong>trong>oftrong>trong>iles for breast cancer trong>celltrong> lines measured by microarray

HPA trong>Celltrong> Line Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From Human Protein Atlas

mRNA expression prtrong>trong>oftrong>trong>iles for trong>celltrong> lines

HPM trong>Celltrong> Type and Tissue Protein Expression Prtrong>trong>oftrong>trong>iles Dataset

From Human Proteome Map

protein expression prtrong>trong>oftrong>trong>iles for tissues and trong>celltrong> types

Klijn et al., Nat. Biotechnol., 2015 trong>Celltrong> Line Gene CNV Prtrong>trong>oftrong>trong>iles Dataset

From Klijn et al., Nat. Biotechnol., 2015

gene-level copy number variation prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

Klijn et al., Nat. Biotechnol., 2015 trong>Celltrong> Line Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From Klijn et al., Nat. Biotechnol., 2015

mRNA expression prtrong>trong>oftrong>trong>iles for cancer trong>celltrong> lines

Klijn et al., Nat. Biotechnol., 2015 trong>Celltrong> Line Gene Mutation Prtrong>trong>oftrong>trong>iles Dataset

From Klijn et al., Nat. Biotechnol., 2015

gene mutations in cancer trong>celltrong> lines

ProteomicsDB trong>Celltrong> Type and Tissue Protein Expression Prtrong>trong>oftrong>trong>iles Dataset

From Proteomics Database

protein expression prtrong>trong>oftrong>trong>iles for tissues and trong>celltrong> types reprocessed from many proteomics datasets

Roadmap Epigenomics trong>Celltrong> and Tissue DNA Accessibility Prtrong>trong>oftrong>trong>iles Dataset

From Roadmap Epigenomics

DNA accessibility prtrong>trong>oftrong>trong>iles for primary trong>celltrong> types and tissues

Roadmap Epigenomics trong>Celltrong> and Tissue DNA Methylation Prtrong>trong>oftrong>trong>iles Dataset

From Roadmap Epigenomics

DNA methylation prtrong>trong>oftrong>trong>iles for primary trong>celltrong> types and tissues

Roadmap Epigenomics trong>Celltrong> and Tissue Gene Expression Prtrong>trong>oftrong>trong>iles Dataset

From Roadmap Epigenomics

mRNA expression prtrong>trong>oftrong>trong>iles for primary trong>celltrong> types and tissues

AICDA Gene

trong>activation-inducedtrong> cytidine deaminase

This gene encodes a RNA-editing deaminase that is a member trong>trong>oftrong>trong> the cytidine deaminase family. The protein is involved in somatic hypermutation, gene conversion, and class-switch recombination trong>trong>oftrong>trong> immunoglobulin genes. Defects in this gene are the cause trong>trong>oftrong>trong> autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Feb 2009]

PIDD1 Gene

p53-induced trong>deathtrong> domain protein 1

The protein encoded by this gene contains a leucine-rich repeat and a trong>deathtrong> domain. This protein has been shown to interact with other trong>deathtrong> domain proteins, such as Fas (TNFRSF6)-associated via trong>deathtrong> domain (FADD) and MAP-kinase activating trong>deathtrong> domain-containing protein (MADD), and thus may function as an adaptor protein in trong>celltrong> trong>deathtrong>-related signaling processes. The expression trong>trong>oftrong>trong> the mouse counterpart trong>trong>oftrong>trong> this gene has been found to be positively regulated by the tumor suppressor p53 and to induce trong>celltrong> apoptosis in response to DNA damage, which suggests a role for this gene as an effector trong>trong>oftrong>trong> p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

GREB1L Gene

growth trong>regulationtrong> by estrogen in breast cancer-like

RPRD1A Gene

trong>regulationtrong> trong>trong>oftrong>trong> nuclear pre-mRNA domain containing 1A

This gene encodes a trong>celltrong>-cycle and transcription regulatory protein. The encoded protein interacts with the trong>celltrong> cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a trong>negativetrong> regulator trong>trong>oftrong>trong> G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, trong>regulationtrong> trong>trong>oftrong>trong> nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain trong>trong>oftrong>trong> RNA polymerase II subunit B1 and regulates several aspects trong>trong>oftrong>trong> transcription. Alternate splicing results in multiple transcript variants. A pseudogene trong>trong>oftrong>trong> this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

RPRD1B Gene

trong>regulationtrong> trong>trong>oftrong>trong> nuclear pre-mRNA domain containing 1B

RPRD2 Gene

trong>regulationtrong> trong>trong>oftrong>trong> nuclear pre-mRNA domain containing 2

GREB1 Gene

growth trong>regulationtrong> by estrogen in breast cancer 1

This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100130602 Gene

trong>regulationtrong> trong>trong>oftrong>trong> nuclear pre-mRNA domain containing 1A pseudogene

TAGAP Gene

T-trong>celltrong> activation RhoGTPase activating protein

This gene encodes a member trong>trong>oftrong>trong> the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2013]

VTCN1 Gene

V-set domain containing T trong>celltrong> activation inhibitor 1

This gene encodes a protein belonging to the B7 costimulatory protein family. Proteins in this family are present on the surface trong>trong>oftrong>trong> antigen-presenting trong>celltrong>s and interact with ligand bound to receptors on the surface trong>trong>oftrong>trong> T trong>celltrong>s. Studies have shown that high levels trong>trong>oftrong>trong> the encoded protein has been correlated with tumor progression. A pseudogene trong>trong>oftrong>trong> this gene is located on chromosome 20. Multiple transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Dec 2011]

LOC391239 Gene

V-set domain containing T trong>celltrong> activation inhibitor 1 pseudogene

TCAIM Gene

T trong>celltrong> activation inhibitor, mitochondrial

TP250 Gene

T-trong>celltrong> activation antigen p250

ID2B Gene

inhibitor trong>trong>oftrong>trong> DNA binding 2B, dominant trong>negativetrong> helix-loop-helix protein (pseudogene)

NELFB Gene

trong>negativetrong> elongation factor complex member B

NELFB is a subunit trong>trong>oftrong>trong> trong>negativetrong> elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer trong>trong>oftrong>trong> SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing trong>trong>oftrong>trong> RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]

NELFA Gene

trong>negativetrong> elongation factor complex member A

This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion trong>trong>oftrong>trong> the distal short arm trong>trong>oftrong>trong> chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype trong>trong>oftrong>trong> the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable trong>trong>oftrong>trong> reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number trong>trong>oftrong>trong> cancer patients. This protein has also been shown to be a member trong>trong>oftrong>trong> the NELF (trong>negativetrong> elongation factor) protein complex that participates in the trong>regulationtrong> trong>trong>oftrong>trong> RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]

NELFE Gene

trong>negativetrong> elongation factor complex member E

The protein encoded by this gene is part trong>trong>oftrong>trong> a complex termed trong>negativetrong> elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract trong>trong>oftrong>trong> alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]

DR1 Gene

down-regulator trong>trong>oftrong>trong> transcription 1, TBP-binding (trong>negativetrong> ctrong>trong>oftrong>trong>actor 2)

This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels trong>trong>oftrong>trong> transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding trong>trong>oftrong>trong> DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation trong>trong>oftrong>trong> higher order complexes, inhibits the assembly trong>trong>oftrong>trong> the preinitiation complex and controls the rate trong>trong>oftrong>trong> RNA polymerase II transcription. [provided by RefSeq, Jul 2008]

NRROS Gene

trong>negativetrong> regulator trong>trong>oftrong>trong> reactive oxygen species

NRIR Gene

trong>negativetrong> regulator trong>trong>oftrong>trong> interferon response (non-protein coding)

This gene is thought to produce a functional long non-coding RNA. This transcript may be a trong>negativetrong> regulator trong>trong>oftrong>trong> interferon response. [provided by RefSeq, Feb 2015]

DRAP1 Gene

DR1-associated protein 1 (trong>negativetrong> ctrong>trong>oftrong>trong>actor 2 alpha)

Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation trong>trong>oftrong>trong> transcription from eukaryotic protein-encoding genes requires the assembly trong>trong>oftrong>trong> a large multiprotein complex consisting trong>trong>oftrong>trong> RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) trong>trong>oftrong>trong> TFIID and prevents the formation trong>trong>oftrong>trong> an active transcription complex by precluding the entry trong>trong>oftrong>trong> TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor trong>trong>oftrong>trong> transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]

NRAV Gene

trong>negativetrong> regulator trong>trong>oftrong>trong> antiviral response (non-protein coding)

NELFCD Gene

trong>negativetrong> elongation factor complex member C/D

The NELF complex trong>trong>oftrong>trong> proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part trong>trong>oftrong>trong> the NELF complex. Alternative translation initiation site usage results in the formation trong>trong>oftrong>trong> two istrong>trong>oftrong>trong>orms with different N-termini. [provided by RefSeq, Jul 2008]

NUB1 Gene

trong>negativetrong> regulator trong>trong>oftrong>trong> ubiquitin-like proteins 1

This gene encodes a protein that functions as a trong>negativetrong> regulator trong>trong>oftrong>trong> NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product trong>trong>oftrong>trong> the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinson's disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing trong>trong>oftrong>trong> this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ID4 Gene

inhibitor trong>trong>oftrong>trong> DNA binding 4, dominant trong>negativetrong> helix-loop-helix protein

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

ID2 Gene

inhibitor trong>trong>oftrong>trong> DNA binding 2, dominant trong>negativetrong> helix-loop-helix protein

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

ID3 Gene

inhibitor trong>trong>oftrong>trong> DNA binding 3, dominant trong>negativetrong> helix-loop-helix protein

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

ID1 Gene

inhibitor trong>trong>oftrong>trong> DNA binding 1, dominant trong>negativetrong> helix-loop-helix protein

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

LOC728613 Gene

programmed trong>celltrong> trong>deathtrong> 6 pseudogene

CDIP1 Gene

trong>celltrong> trong>deathtrong>-inducing p53 target 1

PDCD1LG2 Gene

programmed trong>celltrong> trong>deathtrong> 1 ligand 2

ERICD Gene

E2F1-regulated inhibitor trong>trong>oftrong>trong> trong>celltrong> trong>deathtrong> (non-protein coding)

LOC100132609 Gene

programmed trong>celltrong> trong>deathtrong> 2 pseudogene

CIDECP Gene

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector c pseudogene

LOC105378775 Gene

trong>celltrong> trong>deathtrong> regulator Aven-like

BLID Gene

BH3-like motif containing, trong>celltrong> trong>deathtrong> inducer

This gene encodes a BH3-like motif containing protein involved in trong>celltrong> trong>deathtrong>. The encoded protein may induce apoptosis in a caspase-dependent manner. The protein is localized in both the cytoplasm and the mitochondrion. [provided by RefSeq, Aug 2011]

CIDEC Gene

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector c

This gene encodes a member trong>trong>oftrong>trong> the trong>celltrong> trong>deathtrong>-inducing DNA fragmentation factor-like effector family. Members trong>trong>oftrong>trong> this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene trong>trong>oftrong>trong> this gene is located on the short arm trong>trong>oftrong>trong> chromosome 3. Alternatively spliced transcript variants that encode different istrong>trong>oftrong>trong>orms have been observed for this gene. [provided by RefSeq, Dec 2010]

CIDEA Gene

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector a

This gene encodes the homolog trong>trong>oftrong>trong> the mouse protein Cidea that has been shown to activate apoptosis. This activation trong>trong>oftrong>trong> apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]

PDCD6 Gene

programmed trong>celltrong> trong>deathtrong> 6

This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T trong>celltrong> receptor-, Fas-, and glucocorticoid-induced programmed trong>celltrong> trong>deathtrong>. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple istrong>trong>oftrong>trong>orms have been observed for this gene, and a pseudogene trong>trong>oftrong>trong> this gene is also located on the short arm trong>trong>oftrong>trong> chromosome 5. [provided by RefSeq, May 2012]

PDCD7 Gene

programmed trong>celltrong> trong>deathtrong> 7

This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component trong>trong>oftrong>trong> the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing trong>trong>oftrong>trong> U12-type introns. [provided by RefSeq, Dec 2010]

PDCD4 Gene

programmed trong>celltrong> trong>deathtrong> 4 (neoplastic transformation inhibitor)

This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

PDCD5 Gene

programmed trong>celltrong> trong>deathtrong> 5

This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator trong>trong>oftrong>trong> K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and trong>celltrong> cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]

PDCD2 Gene

programmed trong>celltrong> trong>deathtrong> 2

This gene encodes a nuclear protein expressed in a variety trong>trong>oftrong>trong> tissues. Expression trong>trong>oftrong>trong> this gene has been shown to be repressed by B-trong>celltrong> CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]

PDCD1 Gene

programmed trong>celltrong> trong>deathtrong> 1

This gene encodes a trong>celltrong> surface membrane protein trong>trong>oftrong>trong> the immunoglobulin superfamily. This protein is expressed in pro-B-trong>celltrong>s and is thought to play a role in their differentiation. In mice, expression trong>trong>oftrong>trong> this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers trong>trong>oftrong>trong> thymocytes undergo apoptosis. Mice deficient for this gene bred on a BALB/c background developed dilated cardiomyopathy and died from congestive heart failure. These studies suggest that this gene product may also be important in T trong>celltrong> function and contribute to the prevention trong>trong>oftrong>trong> autoimmune diseases. [provided by RefSeq, Jul 2008]

PDCD10 Gene

programmed trong>celltrong> trong>deathtrong> 10

This gene encodes an evolutionarily conserved protein associated with trong>celltrong> apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extratrong>celltrong>ular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause trong>trong>oftrong>trong> cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

PDCD11 Gene

programmed trong>celltrong> trong>deathtrong> 11

PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation trong>trong>oftrong>trong> 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]

PDCD5P1 Gene

programmed trong>celltrong> trong>deathtrong> 5 pseudogene 1

PDCD5P2 Gene

programmed trong>celltrong> trong>deathtrong> 5 pseudogene 2

DAD1P1 Gene

defender against trong>celltrong> trong>deathtrong> 1 pseudogene 1

LOC100128686 Gene

programmed trong>celltrong> trong>deathtrong> 10 pseudogene

PDCD2L Gene

programmed trong>celltrong> trong>deathtrong> 2-like

LOC728739 Gene

programmed trong>celltrong> trong>deathtrong> 2 pseudogene

BAD Gene

BCL2-associated agonist trong>trong>oftrong>trong> trong>celltrong> trong>deathtrong>

The protein encoded by this gene is a member trong>trong>oftrong>trong> the BCL-2 family. BCL-2 family members are known to be regulators trong>trong>oftrong>trong> programmed trong>celltrong> trong>deathtrong>. This protein positively regulates trong>celltrong> apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their trong>deathtrong> repressor activity. Proapoptotic activity trong>trong>oftrong>trong> this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the trong>regulationtrong> trong>trong>oftrong>trong> this protein. Alternative splicing trong>trong>oftrong>trong> this gene results in two transcript variants which encode the same istrong>trong>oftrong>trong>orm. [provided by RefSeq, Jul 2008]

CIDEB Gene

trong>celltrong> trong>deathtrong>-inducing DFFA-like effector b

FAS Gene

Fas trong>celltrong> surface trong>deathtrong> receptor

The protein encoded by this gene is a member trong>trong>oftrong>trong> the TNF-receptor superfamily. This receptor contains a trong>deathtrong> domain. It has been shown to play a central role in the physiological trong>regulationtrong> trong>trong>oftrong>trong> programmed trong>celltrong> trong>deathtrong>, and has been implicated in the pathogenesis trong>trong>oftrong>trong> various malignancies and diseases trong>trong>oftrong>trong> the immune system. The interaction trong>trong>oftrong>trong> this receptor with its ligand allows the formation trong>trong>oftrong>trong> a trong>deathtrong>-inducing signaling complex that includes Fas-associated trong>deathtrong> domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing trong>trong>oftrong>trong> the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T trong>celltrong>s. Several alternatively spliced transcript variants have been described, some trong>trong>oftrong>trong> which are candidates for nonsense-mediated mRNA decay (NMD). The istrong>trong>oftrong>trong>orms lacking the transmembrane domain may trong>negativetrong>ly regulate the apoptosis mediated by the full length istrong>trong>oftrong>trong>orm. [provided by RefSeq, Mar 2011]

LOC100131557 Gene

programmed trong>celltrong> trong>deathtrong> 2-like pseudogene

DAD1 Gene

defender against trong>celltrong> trong>deathtrong> 1

DAD1, the defender against apoptotic trong>celltrong> trong>deathtrong>, was initially identified as a trong>negativetrong> regulator trong>trong>oftrong>trong> programmed trong>celltrong> trong>deathtrong> in the temperature sensitive tsBN7 trong>celltrong> line. The DAD1 protein disappeared in temperature-sensitive trong>celltrong>s following a shift to the nonpermissive temperature, suggesting that loss trong>trong>oftrong>trong> the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit trong>trong>oftrong>trong> oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature trong>trong>oftrong>trong> N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]

PDCD6IP Gene

programmed trong>celltrong> trong>deathtrong> 6 interacting protein

This gene encodes a protein that functions within the ESCRT pathway in the abscission stage trong>trong>oftrong>trong> cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse trong>celltrong>s have shown that overexpression trong>trong>oftrong>trong> this protein can block apoptosis. In addition, the product trong>trong>oftrong>trong> this gene binds to the product trong>trong>oftrong>trong> the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression trong>trong>oftrong>trong> this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against trong>celltrong> trong>deathtrong>. Several alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]

LOC101927197 Gene

trong>celltrong> trong>deathtrong> activator CIDE-3-like

PAXIP1 Gene

PAX interacting (with transcription-activation domain) protein 1

This gene is a member trong>trong>oftrong>trong> the paired box (PAX) gene family and encodes a nuclear protein with six BRCT (breast cancer carboxy-terminal) domains. This protein plays a critical role in maintaining genome stability, condensation trong>trong>oftrong>trong> chromatin and progression through mitosis. [provided by RefSeq, Jul 2008]

YWHAQ Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta

This gene product belongs to the 14-3-3 family trong>trong>oftrong>trong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5' UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]

YWHAH Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta

This gene product belongs to the 14-3-3 family trong>trong>oftrong>trong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number trong>trong>oftrong>trong> this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]

YWHAB Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta

This gene encodes a protein belonging to the 14-3-3 family trong>trong>oftrong>trong> proteins, members trong>trong>oftrong>trong> which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the trong>celltrong> cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

YWHAG Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma

This gene product belongs to the 14-3-3 family trong>trong>oftrong>trong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle trong>celltrong>s, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]

YWHAE Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon

This gene product belongs to the 14-3-3 family trong>trong>oftrong>trong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as trong>celltrong> division and trong>regulationtrong> trong>trong>oftrong>trong> insulin sensitivity. It has also been implicated in the pathogenesis trong>trong>oftrong>trong> small trong>celltrong> lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]

CCL18 Gene

chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)

This antimicrobial gene is one trong>trong>oftrong>trong> several Cys-Cys (CC) cytokine genes clustered on the q arm trong>trong>oftrong>trong> chromosome 17. Cytokines are a family trong>trong>oftrong>trong> secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T trong>celltrong>s, CD4+ and CD8+ T trong>celltrong>s and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic trong>celltrong>s and activated macrophages in lymph nodes. It may play a role in both humoral and trong>celltrong>-mediated immunity responses. [provided by RefSeq, Sep 2014]

YWHAZP8 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 8

YWHAZP9 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 9

YWHAZP2 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 2

YWHAZP3 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 3

YWHAZP1 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 1

YWHAZP6 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 6

YWHAZP5 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 5

LAT2 Gene

linker for activation trong>trong>oftrong>trong> T trong>celltrong>s family, member 2

This gene is one trong>trong>oftrong>trong> the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists trong>trong>oftrong>trong> at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]

LAG3 Gene

lymphocyte-activation gene 3

Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extratrong>celltrong>ular Ig-like domains. The LAG3 gene contains 8 exons. The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship trong>trong>oftrong>trong> LAG3 to CD4. [provided by RefSeq, Jul 2008]

LOC158781 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene

LOC100422669 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide pseudogene

YWHAZ Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta

This gene product belongs to the 14-3-3 family trong>trong>oftrong>trong> proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]

YWHAZP7 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 7

YWHAZP4 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta pseudogene 4

AVEN Gene

apoptosis, caspase activation inhibitor

LOC100130210 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide pseudogene

NSMAF Gene

neutral sphingomyelinase (N-SMase) activation associated factor

This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain trong>trong>oftrong>trong> the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation trong>trong>oftrong>trong> neutral sphingomyelinase and may play a role in regulating TNF-induced trong>celltrong>ular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

YWHAEP5 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 5

YWHAEP7 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 7

YWHAEP1 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon pseudogene 1

SLAMF1 Gene

signaling lymphocytic activation molecule family member 1

FAP Gene

fibroblast activation protein, alpha

The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts trong>trong>oftrong>trong> epithelial cancers, granulation tissue trong>trong>oftrong>trong> healing wounds, and malignant trong>celltrong>s trong>trong>oftrong>trong> bone and strong>trong>oftrong>trong>t tissue sarcomas. This protein is thought to be involved in the control trong>trong>oftrong>trong> fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Apr 2014]

CRSP5 Gene

ctrong>trong>oftrong>trong>actor required for Sp1 transcriptional activation, subunit 5, 85kDa

YWHABP2 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 2

YWHABP1 Gene

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta pseudogene 1

LOC100132831 Gene

A20-binding inhibitor trong>trong>oftrong>trong> NF-kappaB activation 2 pseudogene

LAT Gene

linker for activation trong>trong>oftrong>trong> T trong>celltrong>s

The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation trong>trong>oftrong>trong> the T-trong>celltrong> antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site trong>trong>oftrong>trong> TCR engagement. Alternative splicing results in multiple transcript variants encoding different istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2008]

ANKDD1A Gene

ankyrin repeat and trong>deathtrong> domain containing 1A

ANKDD1B Gene

ankyrin repeat and trong>deathtrong> domain containing 1B

DAPL1 Gene

trong>deathtrong> associated protein-like 1

DAP3P1 Gene

trong>deathtrong> associated protein 3 pseudogene 1

DAP3P2 Gene

trong>deathtrong> associated protein 3 pseudogene 2

CRADD Gene

CASP2 and RIPK1 domain containing adaptor with trong>deathtrong> domain

The protein encoded by this gene is a trong>deathtrong> domain (CARD/DD)-containing protein and has been shown to induce trong>celltrong> apoptosis. Through its CARD domain, this protein interacts with, and thus recruits, caspase 2/ICH1 to the trong>celltrong> trong>deathtrong> signal transduction complex that includes tumor necrosis factor receptor 1 (TNFR1A), RIPK1/RIP kinase, and numbers trong>trong>oftrong>trong> other CARD domain-containing proteins. [provided by RefSeq, Jul 2008]

LOC286059 Gene

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated trong>deathtrong> domain pseudogene

NRADDP Gene

neurotrophin receptor associated trong>deathtrong> domain, pseudogene

The neurotrophin receptor alike trong>deathtrong> domain proteins belong to the trong>deathtrong> domain superfamily and are involved in mediating apoptosis. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Oct 2008]

FADD Gene

Fas (TNFRSF6)-associated via trong>deathtrong> domain

The protein encoded by this gene is an adaptor molecule that interacts with various trong>celltrong> surface receptors and mediates trong>celltrong> apoptotic signals. Through its C-terminal trong>deathtrong> domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the trong>deathtrong> signaling initiated by these receptors. Interaction trong>trong>oftrong>trong> this protein with the receptors unmasks the N-terminal effector domain trong>trong>oftrong>trong> this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance trong>trong>oftrong>trong> this protein in early T trong>celltrong> development. [provided by RefSeq, Jul 2008]

TRADD Gene

TNFRSF1A-associated via trong>deathtrong> domain

The protein encoded by this gene is a trong>deathtrong> domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed trong>celltrong> trong>deathtrong> signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment trong>trong>oftrong>trong> inhibitor-trong>trong>oftrong>trong>-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced trong>celltrong> trong>deathtrong> pathway. [provided by RefSeq, Jul 2008]

DAPK3 Gene

trong>deathtrong>-associated protein kinase 3

trong>Deathtrong>-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian trong>celltrong>s. These results suggest that DAPK3 may play a role in the induction trong>trong>oftrong>trong> apoptosis. [provided by RefSeq, Jul 2008]

DAPK2 Gene

trong>deathtrong>-associated protein kinase 2

This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that trong>trong>oftrong>trong> trong>deathtrong>-associated protein kinase 1 (DAPK1), a positive regulator trong>trong>oftrong>trong> programmed trong>celltrong> trong>deathtrong>. Overexpression trong>trong>oftrong>trong> this gene was shown to induce trong>celltrong> apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

DAPK1 Gene

trong>deathtrong>-associated protein kinase 1

trong>Deathtrong>-associated protein kinase 1 is a positive mediator trong>trong>oftrong>trong> gamma-interferon induced programmed trong>celltrong> trong>deathtrong>. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

LOC100422426 Gene

CASP2 and RIPK1 domain containing adaptor with trong>deathtrong> domain pseudogene

DAP4C Gene

trong>deathtrong>-associated protein 4C

TNFRSF10D Gene

tumor necrosis factor receptor superfamily, member 10d, decoy with truncated trong>deathtrong> domain

The protein encoded by this gene is a member trong>trong>oftrong>trong> the TNF-receptor superfamily. This receptor contains an extratrong>celltrong>ular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic trong>deathtrong> domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced trong>celltrong> apoptosis. [provided by RefSeq, Jul 2008]

DIDO1 Gene

trong>deathtrong> inducer-obliterator 1

Apoptosis, a major form trong>trong>oftrong>trong> trong>celltrong> trong>deathtrong>, is an efficient mechanism for eliminating unwanted trong>celltrong>s and is trong>trong>oftrong>trong> central importance for development and homeostasis in metazoan animals. In mice, the trong>deathtrong> inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in trong>celltrong> lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2008]

DAXX Gene

trong>deathtrong>-domain associated protein

This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety trong>trong>oftrong>trong> proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration trong>trong>oftrong>trong> this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subtrong>celltrong>ular localization and function trong>trong>oftrong>trong> this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

DEDD Gene

trong>deathtrong> effector domain containing

This gene encodes a protein that contains a trong>deathtrong> effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors trong>trong>oftrong>trong> the programmed trong>celltrong> trong>deathtrong> pathway. Overexpression trong>trong>oftrong>trong> this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MADD Gene

MAP-kinase activating trong>deathtrong> domain

Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one trong>trong>oftrong>trong> two receptors on trong>celltrong>s targeted for apoptosis. The apoptotic signal is transduced inside these trong>celltrong>s by cytoplasmic adaptor proteins. The protein encoded by this gene is a trong>deathtrong> domain-containing adaptor protein that interacts with the trong>deathtrong> domain trong>trong>oftrong>trong> TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic trong>celltrong>s than in normal trong>celltrong>s. Several transcript variants encoding different istrong>trong>oftrong>trong>orms have been described for this gene. [provided by RefSeq, Jul 2008]

LRRD1 Gene

leucine-rich repeats and trong>deathtrong> domain containing 1

DTHD1 Gene

trong>deathtrong> domain containing 1

This gene encodes a protein which contains a trong>deathtrong> domain. trong>Deathtrong> domain-containing proteins function in signaling pathways and formation trong>trong>oftrong>trong> signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

BID Gene

BH3 interacting domain trong>deathtrong> agonist

This gene encodes a trong>deathtrong> agonist that heterodimerizes with either agonist BAX or antagonist BCL2. The encoded protein is a member trong>trong>oftrong>trong> the BCL-2 family trong>trong>oftrong>trong> trong>celltrong> trong>deathtrong> regulators. It is a mediator trong>trong>oftrong>trong> mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found, but the full-length nature trong>trong>oftrong>trong> some variants has not been defined. [provided by RefSeq, Jul 2008]

DAP Gene

trong>deathtrong>-associated protein

This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator trong>trong>oftrong>trong> programmed trong>celltrong> trong>deathtrong> that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, May 2014]

DEDD2 Gene

trong>deathtrong> effector domain containing 2

This gene encodes a nuclear-localized protein containing a trong>deathtrong> effector domain (DED). The encoded protein may regulate the trafficking trong>trong>oftrong>trong> caspases and other proteins into the nucleus during trong>deathtrong> receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

LOC100420576 Gene

trong>deathtrong>-associated protein kinase 1 pseudogene

DAP3 Gene

trong>deathtrong> associated protein 3

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist trong>trong>oftrong>trong> a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner trong>trong>oftrong>trong> the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct istrong>trong>oftrong>trong>orms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]

EDARADD Gene

EDAR-associated trong>deathtrong> domain

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development trong>trong>oftrong>trong> hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a trong>deathtrong> domain-containing protein, and is found to interact with EDAR, a trong>deathtrong> domain receptor known to be required for the development trong>trong>oftrong>trong> hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial trong>celltrong>s during the formation trong>trong>oftrong>trong> hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants trong>trong>oftrong>trong> this gene encoding distinct istrong>trong>oftrong>trong>orms have been reported. [provided by RefSeq, Jul 2008]

LOC391020 Gene

interferon induced transmembrane protein 3 pseudogene

SIPA1L1 Gene

signal-induced proliferation-associated 1 like 1

SIPA1L2 Gene

signal-induced proliferation-associated 1 like 2

SIPA1 Gene

signal-induced proliferation-associated 1

The product trong>trong>oftrong>trong> this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced trong>celltrong> cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same istrong>trong>oftrong>trong>orm have been characterized to date. [provided by RefSeq, Jul 2008]

IFITM8P Gene

interferon induced transmembrane protein 8 pseudogene

IFI35 Gene

interferon-induced protein 35

IFIT1P1 Gene

interferon-induced protein with tetratricopeptide repeats 1 pseudogene 1

STIP1 Gene

stress-induced phosphoprotein 1

STIP1 is an adaptor protein that coordinates the functions trong>trong>oftrong>trong> HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer trong>trong>oftrong>trong> proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity trong>trong>oftrong>trong> HSP70 and inhibits the ATPase activity trong>trong>oftrong>trong> HSP90, suggesting that it regulates both the conformations and ATPase cycles trong>trong>oftrong>trong> these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]

PIH2 Gene

pregnancy-induced hypertension syndrome-related protein

PIP Gene

prolactin-induced protein

PMAIP1 Gene

phorbol-12-myristate-13-acetate-induced protein 1

GDAP2 Gene

ganglioside induced differentiation associated protein 2

GDAP1 Gene

ganglioside induced differentiation associated protein 1

This gene encodes a member trong>trong>oftrong>trong> the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms trong>trong>oftrong>trong> Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different istrong>trong>oftrong>trong>orms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]

TGFB1I1 Gene

transforming growth factor beta 1 induced transcript 1

This gene encodes a coactivator trong>trong>oftrong>trong> the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment trong>trong>oftrong>trong> prostate cancer. Multiple transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Sep 2009]

TNFAIP8L2 Gene

tumor necrosis factor, alpha-induced protein 8-like 2

TNFAIP8L1 Gene

tumor necrosis factor, alpha-induced protein 8-like 1

LOC442017 Gene

interferon induced transmembrane protein 3 pseudogene

IFITM5 Gene

interferon induced transmembrane protein 5

This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster trong>trong>oftrong>trong> related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member trong>trong>oftrong>trong> the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ trong>celltrong> competence. A mutation in the 5' UTR trong>trong>oftrong>trong> this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]

CIHL Gene

hearing loss, cisplatin-induced, susceptibility to

PINK1 Gene

PTEN induced putative kinase 1

This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect trong>celltrong>s from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form trong>trong>oftrong>trong> autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]

MNRI Gene

meningioma, radiation-induced

IFI44 Gene

interferon-induced protein 44

PARTICL Gene

promoter trong>trong>oftrong>trong> MAT2A antisense radiation-induced circulating long non-coding RNA

LSINCT5 Gene

long stress-induced non-coding transcript 5

TGIF2P1 Gene

TGFB-induced factor homeobox 2 pseudogene 1

AVPI1 Gene

arginine vasopressin-induced 1

PRINS Gene

psoriasis associated non-protein coding RNA induced by stress

STAT6 Gene

signal transducer and activator trong>trong>oftrong>trong> transcription 6, interleukin-4 induced

The protein encoded by this gene is a member trong>trong>oftrong>trong> the STAT family trong>trong>oftrong>trong> transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the trong>celltrong> nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression trong>trong>oftrong>trong> BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity trong>trong>oftrong>trong> IL4. Knockout studies in mice suggested the roles trong>trong>oftrong>trong> this gene in differentiation trong>trong>oftrong>trong> T helper 2 (Th2) trong>celltrong>s, expression trong>trong>oftrong>trong> trong>celltrong> surface markers, and class switch trong>trong>oftrong>trong> immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

RAI1 Gene

retinoic acid induced 1

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression trong>trong>oftrong>trong> the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity trong>trong>oftrong>trong> the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]

CIAPIN1P Gene

cytokine induced apoptosis inhibitor 1 pseudogene

SIPA1L3 Gene

signal-induced proliferation-associated 1 like 3

MINA Gene

MYC induced nuclear antigen

MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in trong>celltrong> proliferation or trong>regulationtrong> trong>trong>oftrong>trong> trong>celltrong> growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]

EI24P2 Gene

etoposide induced 2.4 pseudogene 2

EI24P3 Gene

etoposide induced 2.4 pseudogene 3

EI24P1 Gene

etoposide induced 2.4 pseudogene 1

EI24P4 Gene

etoposide induced 2.4 pseudogene 4

IFIH1 Gene

interferon induced with helicase C domain 1

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number trong>trong>oftrong>trong> trong>celltrong>ular processes involving alteration trong>trong>oftrong>trong> RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members trong>trong>oftrong>trong> this family are believed to be involved in embryogenesis, spermatogenesis, and trong>celltrong>ular growth and division. This gene encodes a DEAD box protein that is upregulated in response to treatment with beta-interferon and a protein kinase C-activating compound, mezerein. Irreversible reprogramming trong>trong>oftrong>trong> melanomas can be achieved by treatment with both these agents; treatment with either agent alone only achieves reversible differentiation. Genetic variation in this gene is associated with diabetes mellitus insulin-dependent type 19. [provided by RefSeq, Jul 2012]

PMEPA1 Gene

prostate transmembrane protein, androgen induced 1

This gene encodes a transmembrane protein that contains a Smad interacting motif (SIM). Expression trong>trong>oftrong>trong> this gene is induced by androgens and transforming growth factor beta, and the encoded protein suppresses the androgen receptor and transforming growth factor beta signaling pathways though interactions with Smad proteins. Overexpression trong>trong>oftrong>trong> this gene may play a role in multiple types trong>trong>oftrong>trong> cancer. Alternatively spliced transcript variants encoding multiple istrong>trong>oftrong>trong>orms have been observed for this gene. [provided by RefSeq, Dec 2011]

TIGAR Gene

TP53 induced glycolysis regulatory phosphatase

This gene is regulated as part trong>trong>oftrong>trong> the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain trong>trong>oftrong>trong> the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression trong>trong>oftrong>trong> this protein also protects trong>celltrong>s from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]

LOC100101247 Gene

interferon induced transmembrane protein pseudogene

LOC100101246 Gene

interferon induced transmembrane protein 3 pseudogene

LINC-PINT Gene

long intergenic non-protein coding RNA, p53 induced transcript

IFITM10 Gene

interferon induced transmembrane protein 10

LOC442389 Gene

interferon induced transmembrane protein pseudogene

RARRES2 Gene

retinoic acid receptor responder (tazarotene induced) 2

This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression trong>trong>oftrong>trong> this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety trong>trong>oftrong>trong> tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]

RARRES3 Gene

retinoic acid receptor responder (tazarotene induced) 3

Retinoids exert biologic effects such as potent growth inhibitory and trong>celltrong> differentiation activities and are used in the treatment trong>trong>oftrong>trong> hyperproliferative dermatological diseases. These effects are mediated by specific nuclear receptor proteins that are members trong>trong>oftrong>trong> the steroid and thyroid hormone receptor superfamily trong>trong>oftrong>trong> transcriptional regulators. RARRES1, RARRES2, and RARRES3 are genes whose expression is upregulated by the synthetic retinoid tazarotene. RARRES3 is thought act as a tumor suppressor or growth regulator. [provided by RefSeq, Jul 2008]

RARRES1 Gene

retinoic acid receptor responder (tazarotene induced) 1

This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression trong>trong>oftrong>trong> this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression trong>trong>oftrong>trong> this gene is found to be downregulated in prostate cancer, which is caused by the methylation trong>trong>oftrong>trong> its promoter and CpG island. Alternatively spliced transcript variant encoding distinct istrong>trong>oftrong>trong>orms have been observed. [provided by RefSeq, Jul 2008]

EI24 Gene

etoposide induced 2.4

This gene encodes a putative tumor suppressor and has higher expression in p53-expressing trong>celltrong>s than in control trong>celltrong>s and is an immediate-early induction target trong>trong>oftrong>trong> p53-mediated apoptosis. The encoded protein may suppress trong>celltrong> growth by inducing apoptotic trong>celltrong> trong>deathtrong> through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes trong>trong>oftrong>trong> this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]

GDAP1L1 Gene

ganglioside induced differentiation associated protein 1-like 1

The ganglioside GD3 synthase causes trong>celltrong> differentiation with neurite sprouting when transfected into the mouse neuroblastoma trong>celltrong> line Neuro2a. After differentiation, the expression trong>trong>oftrong>trong> several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different istrong>trong>oftrong>trong>orms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]

IFITM9P Gene

interferon induced transmembrane protein 9 pseudogene

LOC442309 Gene

interferon induced transmembrane protein 3 pseudogene

LOC100187725 Gene

5-azacytidine induced 2 pseudogene

EBI3 Gene

Epstein-Barr virus induced 3

This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T trong>celltrong> and inflammatory responses, in part by activating the Jak/STAT pathway trong>trong>oftrong>trong> CD4+ T trong>celltrong>s. [provided by RefSeq, Sep 2008]

LOC728048 Gene

interferon induced transmembrane protein pseudogene

FGF8 Gene

fibroblast growth factor 8 (androgen-induced)

The protein encoded by this gene is a member trong>trong>oftrong>trong> the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and trong>celltrong> survival activities, and are involved in a variety trong>trong>oftrong>trong> biological processes, including embryonic development, trong>celltrong> growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth trong>trong>oftrong>trong> mammary tumor trong>celltrong>s. Overexpression trong>trong>oftrong>trong> this gene has been shown to increase tumor growth and angiogensis. The adult expression trong>trong>oftrong>trong> this gene is restricted to testes and ovaries. Temporal and spatial pattern trong>trong>oftrong>trong> this gene expression suggests its function as an embryonic epithelial factor. Studies trong>trong>oftrong>trong> the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing trong>trong>oftrong>trong> this gene results in four transcript variants. [provided by RefSeq, Jul 2008]

ATRAID Gene

all-trans retinoic acid-induced differentiation factor

This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use trong>trong>oftrong>trong> alternative splice sites and promotors result in multiple transcript variants encoding different istrong>trong>oftrong>trong>orms.[provided by RefSeq, Dec 2009]

EPRPDC Gene

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

OIT3 Gene

oncoprotein induced transcript 3

IFITM4P Gene

interferon induced transmembrane protein 4 pseudogene

INSIG1 Gene

insulin induced gene 1

Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations in trong>celltrong>s. This protein binds to the sterol-sensing domains trong>trong>oftrong>trong> SREBP cleavage-activating protein (SCAP) and HMG CoA reductase, and is essential for the sterol-mediated trafficking trong>trong>oftrong>trong> the two proteins. Alternatively spliced transcript variants encoding distinct istrong>trong>oftrong>trong>orms have been observed. [provided by RefSeq, Jun 2009]

TNFAIP8 Gene

tumor necrosis factor, alpha-induced protein 8

LOC100533631 Gene

5-azacytidine induced 2 pseudogene

IFIT6P Gene

interferon-induced protein with tetratricopeptide repeats 6, pseudogene

TNFAIP6 Gene

tumor necrosis factor, alpha-induced protein 6

The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member trong>trong>oftrong>trong> the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extratrong>celltrong>ular matrix stability and trong>celltrong> migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity trong>trong>oftrong>trong> I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels trong>trong>oftrong>trong> this protein are found in the synovial fluid trong>trong>oftrong>trong> patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]

TNFAIP1 Gene

tumor necrosis factor, alpha-induced protein 1 (endothelial)

This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial trong>celltrong>s. Studies trong>trong>oftrong>trong> a similar gene in mouse suggest that the expression trong>trong>oftrong>trong> this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]

TNFAIP3 Gene

tumor necrosis factor, alpha-induced protein 3

This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]

TNFAIP2 Gene

tumor necrosis factor, alpha-induced protein 2

This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial trong>celltrong>s. The expression trong>trong>oftrong>trong> this gene was shown to be induced by retinoic acid in a trong>celltrong> line expressing a oncogenic version trong>trong>oftrong>trong> the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]

TGFBI Gene

transforming growth factor, beta-induced, 68kDa

This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extratrong>celltrong>ular matrix proteins modulating trong>celltrong> adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in trong>celltrong>-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit trong>celltrong> adhesion. Mutations in this gene are associated with multiple types trong>trong>oftrong>trong> corneal dystrophy. [provided by RefSeq, Jul 2008]

TGIF1P1 Gene

TGFB-induced factor homeobox 1 pseudogene 1

DSPA2D Gene

interferon induced transmembrane protein 3 pseudogene

LITAF Gene

lipopolysaccharide-induced TNF factor

Lipopolysaccharide is a potent stimulator trong>trong>oftrong>trong> monocytes and macrophages, causing secretion trong>trong>oftrong>trong> tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region trong>trong>oftrong>trong> the TNF-alpha gene. The transcription trong>trong>oftrong>trong> this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis trong>trong>oftrong>trong> extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]

PERM1 Gene

PPARGC1 and ESRR induced regulator, muscle 1

IFI44L Gene

interferon-induced protein 44-like

TGIF2LY Gene

TGFB-induced factor homeobox 2-like, Y-linked

This gene encodes a member trong>trong>oftrong>trong> the TALE/TGIF homeobox family trong>trong>oftrong>trong> transcription factors. This gene lies within the male specific region trong>trong>oftrong>trong> chromosome Y, in a block trong>trong>oftrong>trong> sequence that is thought to be the result trong>trong>oftrong>trong> a large X-to-Y transposition. The C-terminus trong>trong>oftrong>trong> this protein is divergent from that trong>trong>oftrong>trong> its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator trong>trong>oftrong>trong> TGIF2LX. [provided by RefSeq, Jul 2008]

TGIF2LX Gene

TGFB-induced factor homeobox 2-like, X-linked

This gene encodes a member trong>trong>oftrong>trong> the TALE/TGIF homeobox family trong>trong>oftrong>trong> transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog trong>trong>oftrong>trong> this gene lies within the male specific region trong>trong>oftrong>trong> chromosome Y, in a block trong>trong>oftrong>trong> sequence that is thought to be the result trong>trong>oftrong>trong> a large X-to-Y transposition. [provided by RefSeq, Jul 2008]

OSGIN2 Gene

oxidative stress induced growth inhibitor family member 2

OSGIN1 Gene

oxidative stress induced growth inhibitor 1

This gene encodes an oxidative stress response protein that regulates trong>celltrong> trong>deathtrong>. Expression trong>trong>oftrong>trong> the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator trong>trong>oftrong>trong> both inflammatory and anti-inflammatory molecules. The loss trong>trong>oftrong>trong> this protein correlates with uncontrolled trong>celltrong> growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]

AIG1 Gene

androgen-induced 1

BREA2 Gene

breast cancer estrogen-induced apoptosis 2

RAI2 Gene

retinoic acid induced 2

Retinoic acid plays a critical role in development, trong>celltrong>ular growth, and differentiation. The specific function trong>trong>oftrong>trong> this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location trong>trong>oftrong>trong> this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked mental retardation, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

IFITM3 Gene

interferon induced transmembrane protein 3

The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one trong>trong>oftrong>trong> them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated istrong>trong>oftrong>trong>orm has been reported, but the full-length nature trong>trong>oftrong>trong> this variant has not been determined. [provided by RefSeq, May 2012]

IFITM1 Gene

interferon induced transmembrane protein 1

GLCCI1 Gene

glucocorticoid induced 1

This gene encodes a protein trong>trong>oftrong>trong> unknown function. Expression trong>trong>oftrong>trong> this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]

IL4I1 Gene

interleukin 4 induced 1

This gene encodes a protein with limited similarity to L-amino acid oxidase which contains the conserved amino acids thought to be involved in catalysis and binding trong>trong>oftrong>trong> flavin adenine dinucleotide (FAD) ctrong>trong>oftrong>trong>actor. The expression trong>trong>oftrong>trong> this gene can be induced by interleukin 4 in B trong>celltrong>s, however, expression trong>trong>oftrong>trong> transcripts containing the first two exons trong>trong>oftrong>trong> the upstream gene is found in other trong>celltrong> types. Multiple transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Apr 2012]

LOC123862 Gene

interferon induced transmembrane protein pseudogene

LOC101929989 Gene

lipopolysaccharide-induced tumor necrosis factor-alpha factor-like

RARRES2P8 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 8

RARRES2P2 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 2

RARRES2P1 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 1

RARRES2P4 Gene

retinoic acid receptor responder (tazarotene induced) 2 pseudogene 4

IFITM2 Gene

interferon induced transmembrane protein 2

AZI2 Gene

5-azacytidine induced 2

AZI2, or NAP1, contributes to the activation trong>trong>oftrong>trong> NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]

TIAF1 Gene

TGFB1-induced anti-apoptotic factor 1

IFIT5 Gene

interferon-induced protein with tetratricopeptide repeats 5

IFIT3 Gene

interferon-induced protein with tetratricopeptide repeats 3

IFIT2 Gene

interferon-induced protein with tetratricopeptide repeats 2

IFIT1 Gene

interferon-induced protein with tetratricopeptide repeats 1

This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple istrong>trong>oftrong>trong>orms have been observed. [provided by RefSeq, Aug 2012]

FIGF Gene

c-fos induced growth factor (vascular endothelial growth factor D)

The protein encoded by this gene is a member trong>trong>oftrong>trong> the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family and is active in angiogenesis, lymphangiogenesis, and endothelial trong>celltrong> growth. This secreted protein undergoes a complex proteolytic maturation, generating multiple processed forms which bind and activate VEGFR-2 and VEGFR-3 receptors. This protein is structurally and functionally similar to vascular endothelial growth factor C. Read-through transcription has been observed between this locus and the upstream PIR (GeneID 8544) locus. [provided by RefSeq, Feb 2011]

LOC390600 Gene

cytokine induced apoptosis inhibitor 1 pseudogene

CIAPIN1 Gene

cytokine induced apoptosis inhibitor 1

CIAPIN1 is a cytokine-induced inhibitor trong>trong>oftrong>trong> apoptosis with no relation to apoptosis regulatory molecules trong>trong>oftrong>trong> the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression trong>trong>oftrong>trong> CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]

STIP1P1 Gene

stress-induced phosphoprotein 1 pseudogene 1

STIP1P2 Gene

stress-induced phosphoprotein 1 pseudogene 2

STIP1P3 Gene

stress-induced phosphoprotein 1 pseudogene 3

LOC643058 Gene

interferon induced transmembrane protein 3 pseudogene

TNFAIP8L3 Gene

tumor necrosis factor, alpha-induced protein 8-like 3

EI24P5 Gene

etoposide induced 2.4 pseudogene 5

RAI14 Gene

retinoic acid induced 14

INSIG2 Gene

insulin induced gene 2

The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing trong>trong>oftrong>trong> sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]

RASD1 Gene

RAS, dexamethasone-induced 1

This gene encodes a member trong>trong>oftrong>trong> the Ras superfamily trong>trong>oftrong>trong> small GTPases and is induced by dexamethasone. The encoded protein is an activator trong>trong>oftrong>trong> G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in trong>celltrong> morphology, growth and trong>celltrong>-extratrong>celltrong>ular matrix interactions. Epigenetic inactivation trong>trong>oftrong>trong> this gene is closely correlated with resistance to dexamethasone in multiple myeloma trong>celltrong>s. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene.[provided by RefSeq, Sep 2011]

DDIAS Gene

DNA damage-induced apoptosis suppressor

IFIT1B Gene

interferon-induced protein with tetratricopeptide repeats 1B

LOC100129830 Gene

5-azacytidine induced 2 pseudogene

TGIF2 Gene

TGFB-induced factor homeobox 2

The protein encoded by this gene is a DNA-binding homeobox protein and a transcriptional repressor, which appears to repress transcription by recruiting histone deacetylases to TGF beta-responsive genes. This gene is amplified and over-expressed in some ovarian cancers. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. Read-through transcription also exists between this gene and the neighboring downstream C20orf24 (chromosome 20 open reading frame 24) gene. [provided by RefSeq, Dec 2010]

TGIF1 Gene

TGFB-induced factor homeobox 1

The protein encoded by this gene is a member trong>trong>oftrong>trong> the three-amino acid loop extension (TALE) superclass trong>trong>oftrong>trong> atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the trong>celltrong>ular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation trong>trong>oftrong>trong> the retinoic acid responsive element, the protein is an active transcriptional co-repressor trong>trong>oftrong>trong> SMAD2 and may participate in the transmission trong>trong>oftrong>trong> nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly trong>trong>oftrong>trong> the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct istrong>trong>oftrong>trong>orms are described. [provided by RefSeq, Jul 2013]

CRTAM Gene

cytotoxic and regulatory T trong>celltrong> molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T trong>celltrong>s and encodes a type I transmembrane protein with V and C1-like Ig domains (Yeh et al., 2008 [PubMed 18329370]).[supplied by OMIM, Feb 2009]

MZB1 Gene

marginal zone B and B1 trong>celltrong>-specific protein

SPDYE12P Gene

speedy/RINGO trong>celltrong> cycle regulator family member E12, pseudogene

LOC101060086 Gene

trong>celltrong> cycle exit and neuronal differentiation protein 1-like

CDC27P10 Gene

trong>celltrong> division cycle 27 pseudogene 10

CDC27P11 Gene

trong>celltrong> division cycle 27 pseudogene 11

LOC100420540 Gene

trong>celltrong> division cycle associated 8 pseudogene

BTG4 Gene

B-trong>celltrong> translocation gene 4

The protein encoded by this gene is a member trong>trong>oftrong>trong> the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein can induce G1 arrest in the trong>celltrong> cycle. [provided by RefSeq, Jul 2008]

BTG1 Gene

B-trong>celltrong> translocation gene 1, anti-proliferative

This gene is a member trong>trong>oftrong>trong> an anti-proliferative gene family that regulates trong>celltrong> growth and differentiation. Expression trong>trong>oftrong>trong> this gene is highest in the G0/G1 phases trong>trong>oftrong>trong> the trong>celltrong> cycle and downregulated when trong>celltrong>s progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator trong>trong>oftrong>trong> trong>celltrong> differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case trong>trong>oftrong>trong> B-trong>celltrong> chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]

TRAV23DV6 Gene

T trong>celltrong> receptor alpha variable 23/delta variable 6

LOC101929185 Gene

putative glycine-rich trong>celltrong> wall structural protein 1

MEMO1P4 Gene

mediator trong>trong>oftrong>trong> trong>celltrong> motility 1 pseudogene 4

MEMO1P2 Gene

mediator trong>trong>oftrong>trong> trong>celltrong> motility 1 pseudogene 2

MEMO1P3 Gene

mediator trong>trong>oftrong>trong> trong>celltrong> motility 1 pseudogene 3

MCL1 Gene

myeloid trong>celltrong> leukemia 1

This gene encodes an anti-apoptotic protein, which is a member trong>trong>oftrong>trong> the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (istrong>trong>oftrong>trong>orm 1) enhances trong>celltrong> survival by inhibiting apoptosis while the alternatively spliced shorter gene products (istrong>trong>oftrong>trong>orm 2 and istrong>trong>oftrong>trong>orm 3) promote apoptosis and are trong>deathtrong>-inducing. [provided by RefSeq, Oct 2010]

TRBJ2-4 Gene

T trong>celltrong> receptor beta joining 2-4

TRBJ2-5 Gene

T trong>celltrong> receptor beta joining 2-5

TRBJ2-6 Gene

T trong>celltrong> receptor beta joining 2-6

TRBJ2-7 Gene

T trong>celltrong> receptor beta joining 2-7

TRBJ2-1 Gene

T trong>celltrong> receptor beta joining 2-1

TRBJ2-2 Gene

T trong>celltrong> receptor beta joining 2-2

TRBJ2-3 Gene

T trong>celltrong> receptor beta joining 2-3

CEND1 Gene

trong>celltrong> cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma trong>celltrong> differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]

PCNA Gene

proliferating trong>celltrong> nuclear antigen

The protein encoded by this gene is found in the nucleus and is a ctrong>trong>oftrong>trong>actor trong>trong>oftrong>trong> DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity trong>trong>oftrong>trong> leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes trong>trong>oftrong>trong> this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

BOC Gene

BOC trong>celltrong> adhesion associated, oncogene regulated

The protein encoded by this gene is a member trong>trong>oftrong>trong> the immunoglobulin/fibronectin type III repeat family. It is a component trong>trong>oftrong>trong> a trong>celltrong>-surface receptor complex that mediates trong>celltrong>-trong>celltrong> interactions between muscle precursor trong>celltrong>s, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different istrong>trong>oftrong>trong>orms. [provided by RefSeq, Sep 2014]

TRBV20-1 Gene

T trong>celltrong> receptor beta variable 20-1

LOC100130203 Gene

trong>celltrong> adhesion associated, oncogene regulated pseudogene

CDC34 Gene

trong>celltrong> division cycle 34

The protein encoded by this gene is a member trong>trong>oftrong>trong> the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment trong>trong>oftrong>trong> ubiquitin to other proteins. This protein is a part trong>trong>oftrong>trong> the large multiprotein complex, which is required for ubiquitin-mediated degradation trong>trong>oftrong>trong> trong>celltrong> cycle G1 regulators, and for the initiation trong>trong>oftrong>trong> DNA replication. [provided by RefSeq, Jul 2008]

CDC37 Gene

trong>celltrong> division cycle 37

The protein encoded by this gene is highly similar to Cdc 37, a trong>celltrong> division cycle control protein trong>trong>oftrong>trong> Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in trong>celltrong> signal transduction. It has been shown to form complex with Hsp90 and a variety trong>trong>oftrong>trong> protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]

BCL9 Gene

B-trong>celltrong> CLL/lymphoma 9

BCL9 is associated with B-trong>celltrong> acute lymphoblastic leukemia. It may be a target trong>trong>oftrong>trong> translocation in B-trong>celltrong> malignancies with abnormalities trong>trong>oftrong>trong> 1q21. Its function is unknown. The overexpression trong>trong>oftrong>trong> BCL9 may be trong>trong>oftrong>trong> pathogenic significance in B-trong>celltrong> malignancies. [provided by RefSeq, Jul 2008]

BCL5 Gene

B-trong>celltrong> CLL/lymphoma 5

BCL6 Gene

B-trong>celltrong> CLL/lymphoma 6

The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor trong>trong>oftrong>trong> transcription, and has been shown to modulate the transcription trong>trong>oftrong>trong> START-dependent IL-4 responses trong>trong>oftrong>trong> B trong>celltrong>s. This protein can interact with a variety trong>trong>oftrong>trong> POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-trong>celltrong> lymphoma (DLCL), and may be involved in the pathogenesis trong>trong>oftrong>trong> DLCL. Alternatively spliced transcript variants encoding different protein istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Sep 2008]

BCL3 Gene

B-trong>celltrong> CLL/lymphoma 3

This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases trong>trong>oftrong>trong> B-trong>celltrong> leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression trong>trong>oftrong>trong> this gene can be induced by NF-kappa B, which forms a part trong>trong>oftrong>trong> the autoregulatory loop that controls the nuclear residence trong>trong>oftrong>trong> p50 NF-kappa B. [provided by RefSeq, Jul 2008]

BCL2 Gene

B-trong>celltrong> CLL/lymphoma 2

This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic trong>deathtrong> trong>trong>oftrong>trong> some trong>celltrong>s such as lymphocytes. Constitutive expression trong>trong>oftrong>trong> BCL2, such as in the case trong>trong>oftrong>trong> translocation trong>trong>oftrong>trong> BCL2 to Ig heavy chain locus, is thought to be the cause trong>trong>oftrong>trong> follicular lymphoma. Two transcript variants, produced by alternate splicing, differ in their C-terminal ends. [provided by RefSeq, Jul 2008]

HIRA Gene

histone trong>celltrong> cycle regulator

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs trong>trong>oftrong>trong> this gene in yeast, flies, and plants are necessary for the formation trong>trong>oftrong>trong> transcriptionally silent heterochomatin. This gene plays an important role in the formation trong>trong>oftrong>trong> the senescence-associated heterochromatin foci. These foci likely mediate the irreversible trong>celltrong> cycle changes that occur in senescent trong>celltrong>s. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production trong>trong>oftrong>trong> the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]

TRAJ32 Gene

T trong>celltrong> receptor alpha joining 32

INSL3 Gene

insulin-like 3 (Leydig trong>celltrong>)

This gene encodes a member trong>trong>oftrong>trong> the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies trong>trong>oftrong>trong> the mouse counterpart suggest that this gene may be involved in the development trong>trong>oftrong>trong> urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation trong>trong>oftrong>trong> gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

LOC101929818 Gene

killer trong>celltrong> immunoglobulin-like receptor 3DL1

KIR3DX1 Gene

killer trong>celltrong> immunoglobulin-like receptor, three domains, X1

MNDA Gene

myeloid trong>celltrong> nuclear differentiation antigen

The myeloid trong>celltrong> nuclear differentiation antigen (MNDA) is detected only in nuclei trong>trong>oftrong>trong> trong>celltrong>s trong>trong>oftrong>trong> the granulocyte-monocyte lineage. A 200-amino acid region trong>trong>oftrong>trong> human MNDA is strikingly similar to a region in the proteins encoded by a family trong>trong>oftrong>trong> interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a trong>celltrong>- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb trong>trong>oftrong>trong> FCER1A, APCS, CRP, and SPTA1. In its pattern trong>trong>oftrong>trong> expression and/or trong>regulationtrong>, MNDA resembles IFI16, suggesting that these genes participate in blood trong>celltrong>-specific responses to interferons. [provided by RefSeq, Jul 2008]

TRGJ2 Gene

T trong>celltrong> receptor gamma joining 2

TRGJ1 Gene

T trong>celltrong> receptor gamma joining 1

TRGJP Gene

T trong>celltrong> receptor gamma joining P

TRBV6-8 Gene

T trong>celltrong> receptor beta variable 6-8

TRBV6-9 Gene

T trong>celltrong> receptor beta variable 6-9

TRBV6-5 Gene

T trong>celltrong> receptor beta variable 6-5

TRBV6-6 Gene

T trong>celltrong> receptor beta variable 6-6

TRBV6-7 Gene

T trong>celltrong> receptor beta variable 6-7 (non-functional)

TRBV6-2 Gene

T trong>celltrong> receptor beta variable 6-2 (gene/pseudogene)

TRBV6-3 Gene

T trong>celltrong> receptor beta variable 6-3

PCNAP1 Gene

proliferating trong>celltrong> nuclear antigen pseudogene 1

PCNAP4 Gene

proliferating trong>celltrong> nuclear antigen pseudogene 4

TRBC1 Gene

T trong>celltrong> receptor beta constant 1

TRBC2 Gene

T trong>celltrong> receptor beta constant 2

TRBV21-1 Gene

T trong>celltrong> receptor beta variable 21-1 (pseudogene)

LOC100287157 Gene

trong>celltrong> division cycle associated 8 pseudogene

SCRIB Gene

scribbled planar trong>celltrong> polarity protein

This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in trong>celltrong> polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus trong>trong>oftrong>trong> E6. Two alternatively spliced transcript variants that encode different protein istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Nov 2011]

NRCAM Gene

neuronal trong>celltrong> adhesion molecule

trong>Celltrong> adhesion molecules (CAMs) are members trong>trong>oftrong>trong> the immunoglobulin superfamily. This gene encodes a neuronal trong>celltrong> adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in trong>celltrong>-trong>celltrong> communication via signaling from its intratrong>celltrong>ular domain to the actin cytoskeleton during directional trong>celltrong> migration. Allelic variants trong>trong>oftrong>trong> this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2008]

MEMO1P1 Gene

mediator trong>trong>oftrong>trong> trong>celltrong> motility 1 pseudogene 1

DEFA6 Gene

defensin, alpha 6, Paneth trong>celltrong>-specific

Defensins are a family trong>trong>oftrong>trong> antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules trong>trong>oftrong>trong> neutrophils and also found in the epithelia trong>trong>oftrong>trong> mucosal surfaces such as those trong>trong>oftrong>trong> the intestine, respiratory tract, urinary tract, and vagina. Members trong>trong>oftrong>trong> 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 trong>trong>oftrong>trong> Paneth trong>celltrong>s trong>trong>oftrong>trong> the small intestine, and likely plays a role in host defense trong>trong>oftrong>trong> human bowel. [provided by RefSeq, Oct 2014]

DEFA5 Gene

defensin, alpha 5, Paneth trong>celltrong>-specific

Defensins are a family trong>trong>oftrong>trong> antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules trong>trong>oftrong>trong> neutrophils and also found in the epithelia trong>trong>oftrong>trong> mucosal surfaces such as those trong>trong>oftrong>trong> the intestine, respiratory tract, urinary tract, and vagina. Members trong>trong>oftrong>trong> the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several trong>trong>oftrong>trong> 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 trong>trong>oftrong>trong> Paneth trong>celltrong>s trong>trong>oftrong>trong> the ileum. [provided by RefSeq, Oct 2014]

TRBV23OR9-2 Gene

T trong>celltrong> receptor beta variable 23/OR9-2 (non-functional)

DRAIC Gene

downregulated RNA in cancer, inhibitor trong>trong>oftrong>trong> trong>celltrong> invasion and migration

TRBV30 Gene

T trong>celltrong> receptor beta variable 30 (gene/pseudogene)

TCTA Gene

T-trong>celltrong> leukemia translocation altered

DELYQ11 Gene

Sertoli trong>celltrong>-only syndrome, Y-linked

LOC100422623 Gene

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 1 (biliary glycoprotein) pseudogene

ZYG11B Gene

zyg-11 family member B, trong>celltrong> cycle regulator

ZYG11A Gene

zyg-11 family member A, trong>celltrong> cycle regulator

TRBV3-1 Gene

T trong>celltrong> receptor beta variable 3-1

TRBV7-9 Gene

T trong>celltrong> receptor beta variable 7-9

TRBV7-8 Gene

T trong>celltrong> receptor beta variable 7-8

TRBV7-1 Gene

T trong>celltrong> receptor beta variable 7-1 (non-functional)

TRBV7-3 Gene

T trong>celltrong> receptor beta variable 7-3

TRBV7-2 Gene

T trong>celltrong> receptor beta variable 7-2

TRBV7-5 Gene

T trong>celltrong> receptor beta variable 7-5 (pseudogene)

TRBV7-4 Gene

T trong>celltrong> receptor beta variable 7-4 (gene/pseudogene)

TRBV7-7 Gene

T trong>celltrong> receptor beta variable 7-7

TRBV7-6 Gene

T trong>celltrong> receptor beta variable 7-6

HK3 Gene

hexokinase 3 (white trong>celltrong>)

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]

CWH43 Gene

trong>celltrong> wall biogenesis 43 C-terminal homolog (S. cerevisiae)

MTCP1 Gene

mature T-trong>celltrong> proliferation 1

This gene was identified by involvement in some t(X;14) translocations associated with mature T-trong>celltrong> proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets trong>trong>oftrong>trong> 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member trong>trong>oftrong>trong> the TCL1 family. This protein may be involved in leukemogenesis. [provided by RefSeq, Mar 2009]

CDCA2 Gene

trong>celltrong> division cycle associated 2

CDCA3 Gene

trong>celltrong> division cycle associated 3

CDCA7 Gene

trong>celltrong> division cycle associated 7

This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression trong>trong>oftrong>trong> this gene is found to enhance the transformation trong>trong>oftrong>trong> lymphoblastoid trong>celltrong>s, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated trong>celltrong> transformation. Two alternatively spliced transcript variants encoding distinct istrong>trong>oftrong>trong>orms have been reported. [provided by RefSeq, Jul 2008]

CDCA4 Gene

trong>celltrong> division cycle associated 4

This gene encodes a protein that belongs to the E2F family trong>trong>oftrong>trong> transcription factors. This protein regulates E2F-dependent transcriptional activation and trong>celltrong> proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the trong>regulationtrong> trong>trong>oftrong>trong> JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]

CDCA5 Gene

trong>celltrong> division cycle associated 5

CDCA8 Gene

trong>celltrong> division cycle associated 8

This gene encodes a component trong>trong>oftrong>trong> the chromosomal passenger complex. This complex is an essential regulator trong>trong>oftrong>trong> mitosis and trong>celltrong> division. This protein is trong>celltrong>-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes trong>trong>oftrong>trong> this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]

MUC4 Gene

mucin 4, trong>celltrong> surface associated

The major constituents trong>trong>oftrong>trong> mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection trong>trong>oftrong>trong> the epithelial trong>celltrong>s and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the trong>celltrong> surface, although secreted istrong>trong>oftrong>trong>orms may exist. At least two dozen transcript variants trong>trong>oftrong>trong> this gene have been found, although for many trong>trong>oftrong>trong> them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) trong>trong>oftrong>trong> 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

NKS1 Gene

natural killer trong>celltrong> susceptibility 1

CEMIP Gene

trong>celltrong> migration inducing protein, hyaluronan binding

EPCAM Gene

epithelial trong>celltrong> adhesion molecule

This gene encodes a carcinoma-associated antigen and is a member trong>trong>oftrong>trong> a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial trong>celltrong>s and gastrointestinal carcinomas and functions as a homotypic calcium-independent trong>celltrong> adhesion molecule. The antigen is being used as a target for immunotherapy treatment trong>trong>oftrong>trong> human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

TRAJ29 Gene

T trong>celltrong> receptor alpha joining 29

TRAJ28 Gene

T trong>celltrong> receptor alpha joining 28

TRAJ27 Gene

T trong>celltrong> receptor alpha joining 27

TRAJ26 Gene

T trong>celltrong> receptor alpha joining 26

TRAJ25 Gene

T trong>celltrong> receptor alpha joining 25 (non-functional)

TRAJ24 Gene

T trong>celltrong> receptor alpha joining 24

TRAJ23 Gene

T trong>celltrong> receptor alpha joining 23

TRAJ22 Gene

T trong>celltrong> receptor alpha joining 22

TRAJ21 Gene

T trong>celltrong> receptor alpha joining 21

TRAJ20 Gene

T trong>celltrong> receptor alpha joining 20

TRAV5 Gene

T trong>celltrong> receptor alpha variable 5

RGCC Gene

regulator trong>trong>oftrong>trong> trong>celltrong> cycle

This gene is thought to regulate trong>celltrong> cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels trong>trong>oftrong>trong> complement system proteins that result in activation trong>trong>oftrong>trong> the trong>celltrong> cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity trong>trong>oftrong>trong> trong>celltrong> division cycle 2 protein. In different assays and trong>celltrong> types, overexpression trong>trong>oftrong>trong> this protein has been shown to activate or suppress trong>celltrong> cycle progression. [provided by RefSeq, Jul 2008]

TCL6 Gene

T-trong>celltrong> leukemia/lymphoma 6 (non-protein coding)

TCL4 Gene

T-trong>celltrong> leukemia/lymphoma 4

HMCES Gene

5-hydroxymethylcytosine (hmC) binding, ES trong>celltrong>-specific

HCFC1R1 Gene

host trong>celltrong> factor C1 regulator 1 (XPO1 dependent)

TRAV29DV5 Gene

T trong>celltrong> receptor alpha variable 29/delta variable 5 (gene/pseudogene)

MUC17 Gene

mucin 17, trong>celltrong> surface associated

Membrane mucins, such as MUC17, function in epithelial trong>celltrong>s to provide cytoprotection, maintain luminal structure, provide signal transduction, and confer antiadhesive properties upon cancer trong>celltrong>s that lose their apical/basal polarization.[supplied by OMIM, Apr 2004]

MUC16 Gene

mucin 16, trong>celltrong> surface associated

MUC15 Gene

mucin 15, trong>celltrong> surface associated

MUC13 Gene

mucin 13, trong>celltrong> surface associated

Epithelial mucins, such as MUC13, are a family trong>trong>oftrong>trong> secreted and trong>celltrong> surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]

MUC12 Gene

mucin 12, trong>celltrong> surface associated

HCC Gene

thyroid carcinoma, Hurthle trong>celltrong>

NEDD8 Gene

neural precursor trong>celltrong> expressed, developmentally down-regulated 8

NEDD9 Gene

neural precursor trong>celltrong> expressed, developmentally down-regulated 9

The protein encoded by this gene is a member trong>trong>oftrong>trong> the CRK-associated substrates family. Members trong>trong>oftrong>trong> this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in trong>celltrong> attachment, migration and invasion as well as apoptosis and the trong>celltrong> cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

NEDD1 Gene

neural precursor trong>celltrong> expressed, developmentally down-regulated 1

HCLS1 Gene

hematopoietic trong>celltrong>-specific Lyn substrate 1

TRGV5P Gene

T trong>celltrong> receptor gamma variable 5P (pseudogene)

PARD3 Gene

par-3 family trong>celltrong> polarity regulator

This gene encodes a member trong>trong>oftrong>trong> the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical trong>celltrong> division and direct polarized trong>celltrong> growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

LOC100132330 Gene

mal, T-trong>celltrong> differentiation protein-like pseudogene

CD244 Gene

CD244 molecule, natural killer trong>celltrong> receptor 2B4

This gene encodes a trong>celltrong> surface receptor expressed on natural killer (NK) trong>celltrong>s (and some T trong>celltrong>s) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-trong>celltrong> and target trong>celltrong>s via this receptor is thought to modulate NK-trong>celltrong> cytolytic activity. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene.[provided by RefSeq, Oct 2009]

CPA3 Gene

carboxypeptidase A3 (mast trong>celltrong>)

Three different forms trong>trong>oftrong>trong> human pancreatic procarboxypeptidase A have been isolated. This gene encodes a form which is obtained as a binary complex trong>trong>oftrong>trong> a procarboxypeptidase A with proproteinase E and functions as a secretory granule metalloexopeptidase. [provided by RefSeq, Jan 2009]

LIMS3L Gene

LIM and senescent trong>celltrong> antigen-like domains 3-like

TRGV10 Gene

T trong>celltrong> receptor gamma variable 10 (non-functional)

TCIRG1 Gene

T-trong>celltrong>, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

Through alternate splicing, this gene encodes two proteins with similarity to subunits trong>trong>oftrong>trong> the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification trong>trong>oftrong>trong> eukaryotic intratrong>celltrong>ular organelles. V-ATPase dependent organelle acidification is necessary for such intratrong>celltrong>ular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised trong>trong>oftrong>trong> a cytosolic V1 domain and a transmembrane V0 domain. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, Jul 2008]

FRAT1 Gene

frequently rearranged in advanced T-trong>celltrong> lymphomas 1

The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation trong>trong>oftrong>trong> beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumor progression and in lymphomagenesis. [provided by RefSeq, Oct 2008]

FRAT2 Gene

frequently rearranged in advanced T-trong>celltrong> lymphomas 2

The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator trong>trong>oftrong>trong> the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]

LOC105379645 Gene

killer trong>celltrong> immunoglobulin-like receptor 2DL2

SDF2L1 Gene

stromal trong>celltrong>-derived factor 2-like 1

LOC101060051 Gene

vegetative trong>celltrong> wall protein gp1-like

BCC5 Gene

Basal trong>celltrong> carcinoma, susceptibility to, 5

TRBV21OR9-2 Gene

T trong>celltrong> receptor beta variable 21/OR9-2 (pseudogene)

LOC105378167 Gene

vegetative trong>celltrong> wall protein gp1-like

MCAM Gene

melanoma trong>celltrong> adhesion molecule

KLRG1 Gene

killer trong>celltrong> lectin-like receptor subfamily G, member 1

Natural killer (NK) trong>celltrong>s are lymphocytes that can mediate lysis trong>trong>oftrong>trong> certain tumor trong>celltrong>s and virus-infected trong>celltrong>s without previous activation. They can also regulate specific humoral and trong>celltrong>-mediated immunity. The protein encoded by this gene belongs to the killer trong>celltrong> lectin-like receptor (KLR) family, which is a group trong>trong>oftrong>trong> transmembrane proteins preferentially expressed in NK trong>celltrong>s. Studies in mice suggested that the expression trong>trong>oftrong>trong> this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reported, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]

MCTS1 Gene

malignant T trong>celltrong> amplified sequence 1

CCAR1 Gene

trong>celltrong> division cycle and apoptosis regulator 1

CCAR2 Gene

trong>celltrong> cycle and apoptosis regulator 2

METRN Gene

meteorin, glial trong>celltrong> differentiation regulator

Meteorin regulates glial trong>celltrong> differentiation and promotes the formation trong>trong>oftrong>trong> axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]

PCP4 Gene

Purkinje trong>celltrong> protein 4

PCP2 Gene

Purkinje trong>celltrong> protein 2

CTAGE1 Gene

cutaneous T-trong>celltrong> lymphoma-associated antigen 1

GMCL1P1 Gene

germ trong>celltrong>-less, spermatogenesis associated 1 pseudogene 1

This locus shares a high degree trong>trong>oftrong>trong> identity with the multi-exon germ trong>celltrong>-less gene on chromosome 2. Despite its single-exon nature, this chromosome 5 locus contains an open reading frame that could putatively encode a full-length germ trong>celltrong>-less related protein. [provided by RefSeq, Jul 2008]

GMCL1P2 Gene

germ trong>celltrong>-less, spermatogenesis associated 1 pseudogene 2

TRAV14DV4 Gene

T trong>celltrong> receptor alpha variable 14/delta variable 4

KLRG2 Gene

killer trong>celltrong> lectin-like receptor subfamily G, member 2

SCLC1 Gene

small trong>celltrong> cancer trong>trong>oftrong>trong> the lung

KLRB1 Gene

killer trong>celltrong> lectin-like receptor subfamily B, member 1

Natural killer (NK) trong>celltrong>s are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes trong>trong>oftrong>trong> the C-type lectin superfamily, including the rodent NKRP1 family trong>trong>oftrong>trong> glycoproteins, are expressed by NK trong>celltrong>s and may be involved in the trong>regulationtrong> trong>trong>oftrong>trong> NK trong>celltrong> function. The KLRB1 protein contains an extratrong>celltrong>ular domain with several motifs characteristic trong>trong>oftrong>trong> C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]

CLLS2 Gene

Disrupted in B-trong>celltrong> neoplasia

MGCT Gene

male germ trong>celltrong> tumor

TRBD1 Gene

T trong>celltrong> receptor beta diversity 1

LOC105379650 Gene

killer trong>celltrong> immunoglobulin-like receptor 2DS1

LOC101927245 Gene

vegetative trong>celltrong> wall protein gp1-like

CDC20B Gene

trong>celltrong> division cycle 20B

BCC6 Gene

Basal trong>celltrong> carcinoma, susceptibility to, 6

VANGL1 Gene

VANGL planar trong>celltrong> polarity protein 1

This gene encodes a member trong>trong>oftrong>trong> the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

TRAJ16 Gene

T trong>celltrong> receptor alpha joining 16

TRAJ17 Gene

T trong>celltrong> receptor alpha joining 17

TRAJ14 Gene

T trong>celltrong> receptor alpha joining 14

TRAJ15 Gene

T trong>celltrong> receptor alpha joining 15

TRAJ12 Gene

T trong>celltrong> receptor alpha joining 12

TRAJ13 Gene

T trong>celltrong> receptor alpha joining 13

TRAJ10 Gene

T trong>celltrong> receptor alpha joining 10

TRAJ11 Gene

T trong>celltrong> receptor alpha joining 11

TRAJ18 Gene

T trong>celltrong> receptor alpha joining 18

TRAJ19 Gene

T trong>celltrong> receptor alpha joining 19 (non-functional)

BCL6B Gene

B-trong>celltrong> CLL/lymphoma 6, member B

SWAP70 Gene

SWAP switching B-trong>celltrong> complex 70kDa subunit

CDC5L Gene

trong>celltrong> division cycle 5-like

The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a trong>celltrong> cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator trong>trong>oftrong>trong> trong>celltrong> cycle G2/M progression. It was also found to be an essential component trong>trong>oftrong>trong> a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step trong>trong>oftrong>trong> pre-mRNA splicing. [provided by RefSeq, Jul 2008]

KIR2DS5 Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer trong>celltrong> immunoglobulin-like receptor, three domains, pseudogene

KIR2DS2 Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

SPDYE10P Gene

speedy/RINGO trong>celltrong> cycle regulator family member E10, pseudogene

TRBJ2-2P Gene

T trong>celltrong> receptor beta joining 2-2P (non-functional)

FDCSP Gene

follicular dendritic trong>celltrong> secreted protein

This gene encodes a small secreted protein that is expressed in follicular dendritic trong>celltrong>s. This protein specifically binds to activated B trong>celltrong>s, and functions as a regulator trong>trong>oftrong>trong> antibody responses. It is also thought to contribute to tumor metastases by promoting cancer trong>celltrong> migration and invasion. [provided by RefSeq, Dec 2011]

TRBV11-3 Gene

T trong>celltrong> receptor beta variable 11-3

TRBV11-1 Gene

T trong>celltrong> receptor beta variable 11-1

EBF4 Gene

early B-trong>celltrong> factor 4

EBF4 belongs to the conserved Olf/EBF family trong>trong>oftrong>trong> helix-loop-helix transcription factors, members trong>trong>oftrong>trong> which play important roles in neural development and B-trong>celltrong> maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]

EBF3 Gene

early B-trong>celltrong> factor 3

This gene encodes a member trong>trong>oftrong>trong> the early B-trong>celltrong> factor (EBF) family trong>trong>oftrong>trong> DNA binding transcription factors. EBF proteins are involved in B-trong>celltrong> differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits trong>celltrong> survival through the trong>regulationtrong> trong>trong>oftrong>trong> genes involved in trong>celltrong> cycle arrest and apoptosis, and aberrant methylation or deletion trong>trong>oftrong>trong> this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]

EBF2 Gene

early B-trong>celltrong> factor 2

The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family trong>trong>oftrong>trong> non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety trong>trong>oftrong>trong> developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation trong>trong>oftrong>trong> osteoblasts. [provided by RefSeq, Oct 2011]

EBF1 Gene

early B-trong>celltrong> factor 1

CGRRF1 Gene

trong>celltrong> growth regulator with ring finger domain 1

GLYCAM1 Gene

glycosylation dependent trong>celltrong> adhesion molecule 1 (pseudogene)

PP13 Gene

vegetative trong>celltrong> wall protein gp1

TRAV20 Gene

T trong>celltrong> receptor alpha variable 20

CDCA7L Gene

trong>celltrong> division cycle associated 7-like

TIGIT Gene

T trong>celltrong> immunoreceptor with Ig and ITIM domains

This gene encodes a member trong>trong>oftrong>trong> the PVR (poliovirus receptor) family trong>trong>oftrong>trong> immunoglobin proteins. The product trong>trong>oftrong>trong> this gene is expressed on several classes trong>trong>oftrong>trong> T trong>celltrong>s including follicular B helper T trong>celltrong>s (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic trong>celltrong>s to regulate T trong>celltrong> dependent B trong>celltrong> responses.[provided by RefSeq, Sep 2009]

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated trong>celltrong> cycle protein

NCR3LG1 Gene

natural killer trong>celltrong> cytotoxicity receptor 3 ligand 1

B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor trong>celltrong>s. Interaction trong>trong>oftrong>trong> B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) trong>celltrong> activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]

KIR3DL1 Gene

killer trong>celltrong> immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer trong>celltrong> immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. This gene is one trong>trong>oftrong>trong> the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple istrong>trong>oftrong>trong>orms have been observed for this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer trong>celltrong> immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. This gene is one trong>trong>oftrong>trong> the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

MEMO1 Gene

mediator trong>trong>oftrong>trong> trong>celltrong> motility 1

ESAM Gene

endothelial trong>celltrong> adhesion molecule

TRBV24-1 Gene

T trong>celltrong> receptor beta variable 24-1

BANK1 Gene

B-trong>celltrong> scaffold protein with ankyrin repeats 1

The protein encoded by this gene is a B-trong>celltrong>-specific scaffold protein that functions in B-trong>celltrong> receptor-induced calcium mobilization from intratrong>celltrong>ular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation trong>trong>oftrong>trong> inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

FUZ Gene

fuzzy planar trong>celltrong> polarity protein

This gene encodes a planar trong>celltrong> polarity protein that is involved in ciliogenesis and directional trong>celltrong> movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]

CEACAM19 Gene

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 19

CEACAM18 Gene

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 18

CEACAM16 Gene

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 16

The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair trong>celltrong>s and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause trong>trong>oftrong>trong> non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]

CDC42P5 Gene

trong>celltrong> division cycle 42 pseudogene 5

LOC105372844 Gene

vegetative trong>celltrong> wall protein gp1-like

PBXIP1 Gene

pre-B-trong>celltrong> leukemia homeobox interacting protein 1

LOC345471 Gene

trong>celltrong> division cycle 37 homolog (S. cerevisiae) pseudogene

MCF2 Gene

MCF.2 trong>celltrong> line derived transforming sequence

The oncogenic protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that exerts control over some members trong>trong>oftrong>trong> the Rho family trong>trong>oftrong>trong> small GTPases. Several transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. These istrong>trong>oftrong>trong>orms exhibit different expression patterns and varying levels trong>trong>oftrong>trong> GEF activity.[provided by RefSeq, Jan 2010]

CDON Gene

trong>celltrong> adhesion associated, oncogene regulated

This gene encodes a trong>celltrong> surface receptor that is a member trong>trong>oftrong>trong> the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member trong>trong>oftrong>trong> a trong>celltrong>-surface receptor complex that mediates trong>celltrong>-trong>celltrong> interactions between muscle precursor trong>celltrong>s and positively regulates myogenesis. [provided by RefSeq, Aug 2011]

PPDPF Gene

pancreatic progenitor trong>celltrong> differentiation and proliferation factor

TRBV10-2 Gene

T trong>celltrong> receptor beta variable 10-2

TRBV10-3 Gene

T trong>celltrong> receptor beta variable 10-3

TRBV10-1 Gene

T trong>celltrong> receptor beta variable 10-1(gene/pseudogene)

LOC102725023 Gene

killer trong>celltrong> immunoglobulin-like receptor 2DS3 allele 0020101

CDC20P1 Gene

trong>celltrong> division cycle 20 pseudogene 1

LIMS2 Gene

LIM and senescent trong>celltrong> antigen-like domains 2

This gene encodes a member trong>trong>oftrong>trong> a small family trong>trong>oftrong>trong> focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate trong>celltrong> shape and migration. A pseudogene trong>trong>oftrong>trong> this gene is located on chromosome 4. Multiple transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Nov 2011]

LIMS3 Gene

LIM and senescent trong>celltrong> antigen-like domains 3

LIMS1 Gene

LIM and senescent trong>celltrong> antigen-like domains 1

The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery trong>trong>oftrong>trong> spreading trong>celltrong>s also suggests that this protein may play a role in integrin-mediated trong>celltrong> adhesion or spreading. Several transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Jul 2010]

TRGJP2 Gene

T trong>celltrong> receptor gamma joining P2

TRGJP1 Gene

T trong>celltrong> receptor gamma joining P1

LOC102725210 Gene

vegetative trong>celltrong> wall protein gp1-like

BOD1 Gene

biorientation trong>trong>oftrong>trong> chromosomes in trong>celltrong> division 1

TRBV25-1 Gene

T trong>celltrong> receptor beta variable 25-1

CERCAM Gene

cerebral endothelial trong>celltrong> adhesion molecule

VCAM1 Gene

vascular trong>celltrong> adhesion molecule 1

This gene is a member trong>trong>oftrong>trong> the Ig superfamily and encodes a trong>celltrong> surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial trong>celltrong> adhesion and signal transduction, and may play a role in the development trong>trong>oftrong>trong> artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different istrong>trong>oftrong>trong>orms have been described for this gene. [provided by RefSeq, Dec 2010]

LAKLG Gene

lymphokine-activated killer trong>celltrong> ligand

TRBV17 Gene

T trong>celltrong> receptor beta variable 17 (non-functional)

TRBV16 Gene

T trong>celltrong> receptor beta variable 16 (gene/pseudogene)

TRBV15 Gene

T trong>celltrong> receptor beta variable 15

TRBV14 Gene

T trong>celltrong> receptor beta variable 14

TRBV13 Gene

T trong>celltrong> receptor beta variable 13

TRBV19 Gene

T trong>celltrong> receptor beta variable 19

TRBV18 Gene

T trong>celltrong> receptor beta variable 18

NOS3 Gene

nitric oxide synthase 3 (endothelial trong>celltrong>)

Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Multiple transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, May 2009]

TRDV1 Gene

T trong>celltrong> receptor delta variable 1

TRDV3 Gene

T trong>celltrong> receptor delta variable 3

TRDV2 Gene

T trong>celltrong> receptor delta variable 2

URGCP Gene

upregulator trong>trong>oftrong>trong> trong>celltrong> proliferation

URG4 is upregulated in the presence trong>trong>oftrong>trong> hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development trong>trong>oftrong>trong> hepatotrong>celltrong>ular carcinoma by promoting hepatotrong>celltrong>ular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]

SMAGP Gene

small trong>celltrong> adhesion glycoprotein

SPDYE15P Gene

speedy/RINGO trong>celltrong> cycle regulator family member E15, pseudogene

PTCRA Gene

pre T-trong>celltrong> antigen receptor alpha

The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-trong>celltrong>s. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-trong>celltrong> receptor complex, which regulates early T-trong>celltrong> development. Four transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene.[provided by RefSeq, Jul 2011]

NCAM1 Gene

neural trong>celltrong> adhesion molecule 1

This gene encodes a trong>celltrong> adhesion protein which is a member trong>trong>oftrong>trong> the immunoglobulin superfamily. The encoded protein is involved in trong>celltrong>-to-trong>celltrong> interactions as well as trong>celltrong>-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development trong>trong>oftrong>trong> the nervous system, and for trong>celltrong>s involved in the expansion trong>trong>oftrong>trong> T trong>celltrong>s and dendritic trong>celltrong>s which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

NCAM2 Gene

neural trong>celltrong> adhesion molecule 2

The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein and may function in selective fasciculation and zone-to-zone projection trong>trong>oftrong>trong> the primary olfactory axons. [provided by RefSeq, Jul 2008]

TRBVAOR9-2 Gene

T trong>celltrong> receptor beta variable A/OR9-2 (pseudogene)

TRAV36DV7 Gene

T trong>celltrong> receptor alpha variable 36/delta variable 7

KIR2DS4 Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

CDC27P7 Gene

trong>celltrong> division cycle 27 pseudogene 7

LOC101930589 Gene

trong>celltrong> division cycle protein 27 homolog pseudogene

CDC25C Gene

trong>celltrong> division cycle 25C

This gene is highly conserved during evolution and it plays a key role in the trong>regulationtrong> trong>trong>oftrong>trong> trong>celltrong> division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation trong>trong>oftrong>trong> cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants trong>trong>oftrong>trong> this gene have been described, however, the full-length nature trong>trong>oftrong>trong> many trong>trong>oftrong>trong> them is not known. [provided by RefSeq, Jul 2008]

CDC25B Gene

trong>celltrong> division cycle 25B

CDC25B is a member trong>trong>oftrong>trong> the CDC25 family trong>trong>oftrong>trong> phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases trong>trong>oftrong>trong> the trong>celltrong> cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist. [provided by RefSeq, Jul 2008]

CDC25A Gene

trong>celltrong> division cycle 25A

CDC25A is a member trong>trong>oftrong>trong> the CDC25 family trong>trong>oftrong>trong> phosphatases. CDC25A is required for progression from G1 to the S phase trong>trong>oftrong>trong> the trong>celltrong> cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents trong>celltrong>s with chromosomal abnormalities from progressing through trong>celltrong> division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

PBG1 Gene

pancreatic beta trong>celltrong> glycoprotein 1

TRAJ49 Gene

T trong>celltrong> receptor alpha joining 49

TRAJ48 Gene

T trong>celltrong> receptor alpha joining 48

TRAJ41 Gene

T trong>celltrong> receptor alpha joining 41

TRAJ40 Gene

T trong>celltrong> receptor alpha joining 40

TRAJ43 Gene

T trong>celltrong> receptor alpha joining 43

TRAJ42 Gene

T trong>celltrong> receptor alpha joining 42

TRAJ45 Gene

T trong>celltrong> receptor alpha joining 45

TRAJ44 Gene

T trong>celltrong> receptor alpha joining 44

TRAJ47 Gene

T trong>celltrong> receptor alpha joining 47

TRAJ46 Gene

T trong>celltrong> receptor alpha joining 46

CDC27P2 Gene

trong>celltrong> division cycle 27 pseudogene 2

CDC27P3 Gene

trong>celltrong> division cycle 27 pseudogene 3

CDC27P1 Gene

trong>celltrong> division cycle 27 pseudogene 1

CDC27P6 Gene

trong>celltrong> division cycle 27 pseudogene 6

CDC27P4 Gene

trong>celltrong> division cycle 27 pseudogene 4

CDC27P5 Gene

trong>celltrong> division cycle 27 pseudogene 5

CDC27P8 Gene

trong>celltrong> division cycle 27 pseudogene 8

CDC27P9 Gene

trong>celltrong> division cycle 27 pseudogene 9

SPDYE2B Gene

speedy/RINGO trong>celltrong> cycle regulator family member E2B

HEPACAM Gene

hepatic and glial trong>celltrong> adhesion molecule

The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side trong>trong>oftrong>trong> the trong>celltrong> membrane. The encoded protein acts as a homodimer and is involved in trong>celltrong> motility and trong>celltrong>-matrix interactions. The expression trong>trong>oftrong>trong> this gene is downregulated or undetectable in many cancer trong>celltrong> lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]

TRGC1 Gene

T trong>celltrong> receptor gamma constant 1

TRGC2 Gene

T trong>celltrong> receptor gamma constant 2

CDC27 Gene

trong>celltrong> division cycle 27

The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product trong>trong>oftrong>trong> Schizosaccharomyces pombe nuc 2. This protein is a component trong>trong>oftrong>trong> the anaphase-promoting complex (APC), which is composed trong>trong>oftrong>trong> eight protein subunits and is highly conserved in eukaryotic trong>celltrong>s. This complex catalyzes the formation trong>trong>oftrong>trong> cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis trong>trong>oftrong>trong> B-type cyclins. The protein encoded by this gene and three other members trong>trong>oftrong>trong> the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing trong>trong>oftrong>trong> mitosis. Alternative splicing trong>trong>oftrong>trong> this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]

CDC26 Gene

trong>celltrong> division cycle 26

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component trong>trong>oftrong>trong> trong>celltrong> cycle anaphase-promoting complex (APC). APC is composed trong>trong>oftrong>trong> a group trong>trong>oftrong>trong> highly conserved proteins and functions as a trong>celltrong> cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the trong>celltrong> cycle regulated proteolysis trong>trong>oftrong>trong> various proteins. [provided by RefSeq, Jul 2008]

CDC20 Gene

trong>celltrong> division cycle 20

CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the trong>celltrong> cycle. It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]

SPDYE8P Gene

speedy/RINGO trong>celltrong> cycle regulator family member E8, pseudogene

BCAP31 Gene

B-trong>celltrong> receptor-associated protein 31

This gene encodes a member trong>trong>oftrong>trong> the B-trong>celltrong> receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein trong>trong>oftrong>trong> the endoplasmic reticulum that is involved in the anterograde transport trong>trong>oftrong>trong> membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing trong>trong>oftrong>trong> this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

NEDD4L Gene

neural precursor trong>celltrong> expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase

This gene encodes a member trong>trong>oftrong>trong> the Nedd4 family trong>trong>oftrong>trong> HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination trong>trong>oftrong>trong> multiple target substrates and plays a critical role in epithelial sodium transport by regulating the trong>celltrong> surface expression trong>trong>oftrong>trong> the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple istrong>trong>oftrong>trong>orms have been observed for this gene. [provided by RefSeq, Mar 2012]

THY1 Gene

Thy-1 trong>celltrong> surface antigen

PARD3B Gene

par-3 family trong>celltrong> polarity regulator beta

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red trong>celltrong> leak

CLNK Gene

cytokine-dependent hematopoietic trong>celltrong> linker

MIST is a member trong>trong>oftrong>trong> the SLP76 family trong>trong>oftrong>trong> adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the trong>regulationtrong> trong>trong>oftrong>trong> immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B trong>celltrong> antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast trong>celltrong> degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]

TCO Gene

Thyroid carcinoma, nonmedullary, with trong>celltrong> oxyphilia

CDC14C Gene

trong>celltrong> division cycle 14C

CDC14B Gene

trong>celltrong> division cycle 14B

The protein encoded by this gene is a member trong>trong>oftrong>trong> the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit trong>trong>oftrong>trong> trong>celltrong> mitosis and initiation trong>trong>oftrong>trong> DNA replication, which suggests the role in trong>celltrong> cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function trong>trong>oftrong>trong> p53. Alternative splice trong>trong>oftrong>trong> this gene results in 3 transcript variants encoding distinct istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2008]

CDC14A Gene

trong>celltrong> division cycle 14A

The protein encoded by this gene is a member trong>trong>oftrong>trong> the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit trong>trong>oftrong>trong> trong>celltrong> mitosis and initiation trong>trong>oftrong>trong> DNA replication, suggesting a role in trong>celltrong> cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function trong>trong>oftrong>trong> p53. Alternative splicing trong>trong>oftrong>trong> this gene results in several transcript variants encoding distinct istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2008]

CEACAM20 Gene

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 20

CEACAM21 Gene

carcinoembryonic antigen-related trong>celltrong> adhesion molecule 21

LOC100420530 Gene

mucin 4, trong>celltrong> surface associated pseudogene

LOC100420536 Gene

islet trong>celltrong> autoantigen 1, 69kDa pseudogene

LOC266683 Gene

dendritic trong>celltrong> protein pseudogene

TRAV38-2DV8 Gene

T trong>celltrong> receptor alpha variable 38-2/delta variable 8

ICA1L Gene

islet trong>celltrong> autoantigen 1,69kDa-like

LOC101928242 Gene

trong>celltrong> cycle control protein 50B-like

SPDYE7P Gene

speedy/RINGO trong>celltrong> cycle regulator family member E7, pseudogene

TRBV6-4 Gene

T trong>celltrong> receptor beta variable 6-4

TRBV6-1 Gene

T trong>celltrong> receptor beta variable 6-1

CDC23 Gene

trong>celltrong> division cycle 23

The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for trong>celltrong> cycle progression through the G2/M transition. This protein is a component trong>trong>oftrong>trong> anaphase-promoting complex (APC), which is composed trong>trong>oftrong>trong> eight protein subunits and highly conserved in eukaryotic trong>celltrong>s. APC catalyzes the formation trong>trong>oftrong>trong> cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis trong>trong>oftrong>trong> B-type cyclins. This protein and 3 other members trong>trong>oftrong>trong> the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]

PRCC Gene

papillary renal trong>celltrong> carcinoma (translocation-associated)

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion trong>trong>oftrong>trong> this gene to TFE3 (GeneID 7030) have been associated with papillary renal trong>celltrong> carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption trong>trong>oftrong>trong> the trong>celltrong> cycle.[provided by RefSeq, Aug 2010]

RQCD1 Gene

RCD1 required for trong>celltrong> differentiation1 homolog (S. pombe)

This gene encodes a member trong>trong>oftrong>trong> the highly conserved RCD1 protein family. The encoded protein is a transcriptional ctrong>trong>oftrong>trong>actor and a core protein trong>trong>oftrong>trong> the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated trong>celltrong> differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]

LOC100128775 Gene

neural precursor trong>celltrong> expressed, developmentally down-regulated 8 pseudogene

BOD1L2 Gene

biorientation trong>trong>oftrong>trong> chromosomes in trong>celltrong> division 1-like 2

BOD1L1 Gene

biorientation trong>trong>oftrong>trong> chromosomes in trong>celltrong> division 1-like 1

KLRAP1 Gene

killer trong>celltrong> lectin-like receptor subfamily A pseudogene 1

PCNAP2 Gene

proliferating trong>celltrong> nuclear antigen pseudogene 2

TCF7 Gene

transcription factor 7 (T-trong>celltrong> 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-trong>celltrong>s. 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 istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Oct 2011]

LOC101409255 Gene

trong>celltrong> division cycle 42 pseudogene

LOC101409256 Gene

trong>celltrong> division cycle 42 pseudogene

PRG2 Gene

proteoglycan 2, bone marrow (natural killer trong>celltrong> activator, eosinophil granule major basic protein)

The protein encoded by this gene is the predominant constituent trong>trong>oftrong>trong> the crystalline core trong>trong>oftrong>trong> the eosinophil granule. High levels trong>trong>oftrong>trong> the prtrong>trong>oftrong>trong>orm trong>trong>oftrong>trong> 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-trong>negativetrong> bacteria, and fungi. It is directly implicated in epithelial trong>celltrong> damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Nov 2014]

MADCAM1 Gene

mucosal vascular addressin trong>celltrong> adhesion molecule 1

The protein encoded by this gene is an endothelial trong>celltrong> adhesion molecule that interacts preferentially with the leukocyte beta7 integrin LPAM-1 (alpha4beta7), L-selectin, and VLA-4 (alpha4beta1) on myeloid trong>celltrong>s to direct leukocytes into mucosal and inflamed tissues. It is a member trong>trong>oftrong>trong> the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein istrong>trong>oftrong>trong>orms have been found for this gene, but the full-length nature trong>trong>oftrong>trong> some variants has not been determined. [provided by RefSeq, Jul 2008]

ICK Gene

intestinal trong>celltrong> (MAK-like) kinase

Eukaryotic protein kinases are enzymes that belong to a very extensive family trong>trong>oftrong>trong> proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial trong>celltrong> proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same istrong>trong>oftrong>trong>orm, have been identified. [provided by RefSeq, Jul 2008]

ZYG11AP1 Gene

zyg-11 family member A, trong>celltrong> cycle regulator pseudogene 1

NET1 Gene

neuroepithelial trong>celltrong> transforming 1

This gene is part trong>trong>oftrong>trong> the family trong>trong>oftrong>trong> Rho guanine nucleotide exchange factors. Members trong>trong>oftrong>trong> this family activate Rho proteins by catalyzing the exchange trong>trong>oftrong>trong> GDP for GTP. The protein encoded by this gene interacts with RhoA within the trong>celltrong> nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes trong>trong>oftrong>trong> this gene are located on the long arms trong>trong>oftrong>trong> chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2012]

TRBV28 Gene

T trong>celltrong> receptor beta variable 28

TRBV26 Gene

T trong>celltrong> receptor beta variable 26 (pseudogene)

MCTS2P Gene

malignant T trong>celltrong> amplified sequence 2, pseudogene

DSCAM Gene

Down syndrome trong>celltrong> adhesion molecule

This gene is a member trong>trong>oftrong>trong> the immunoglobulin superfamily trong>trong>oftrong>trong> trong>celltrong> adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple istrong>trong>oftrong>trong>orms have been observed for this gene. [provided by RefSeq, Oct 2012]

BCAP31P1 Gene

B-trong>celltrong> receptor-associated protein 31 pseudogene 1

LOC100418583 Gene

mucin 4, trong>celltrong> surface associated pseudogene

LOC100418585 Gene

mucin 4, trong>celltrong> surface associated pseudogene

LOC100418584 Gene

mucin 4, trong>celltrong> surface associated pseudogene

SCAI Gene

suppressor trong>trong>oftrong>trong> cancer trong>celltrong> invasion

This gene encodes a regulator trong>trong>oftrong>trong> trong>celltrong> migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

SDK1 Gene

sidekick trong>celltrong> adhesion molecule 1

SDK2 Gene

sidekick trong>celltrong> adhesion molecule 2

The protein encoded by this gene is a member trong>trong>oftrong>trong> the immunoglobulin superfamily. The protein contains two immunoglobulin domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extratrong>celltrong>ular and intratrong>celltrong>ular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the trong>celltrong> surface. This protein, and a homologous mouse sequence, are very similar to the Drosophila sidekick gene product but the specific function trong>trong>oftrong>trong> this superfamily member is not yet known. Evidence for alternative splicing at this gene locus has been observed but the full-length nature trong>trong>oftrong>trong> additional variants has not yet been determined. [provided by RefSeq, Jul 2008]

TRAV31 Gene

T trong>celltrong> receptor alpha variable 31 (pseudogene)

PBX4 Gene

pre-B-trong>celltrong> leukemia homeobox 4

This gene encodes a member trong>trong>oftrong>trong> the pre-B trong>celltrong> leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and trong>celltrong>ular differentiation both as Hox ctrong>trong>oftrong>trong>actors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions trong>trong>oftrong>trong> the protein have not been determined. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2011]

PBX2 Gene

pre-B-trong>celltrong> leukemia homeobox 2

This gene encodes a ubiquitously expressed member trong>trong>oftrong>trong> the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-trong>celltrong> leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]

PBX3 Gene

pre-B-trong>celltrong> leukemia homeobox 3

PBX1 Gene

pre-B-trong>celltrong> leukemia homeobox 1

This gene encodes a nuclear protein that belongs to the PBX homeobox family trong>trong>oftrong>trong> transcriptional factors. Studies in mice suggest that this gene may be involved in the trong>regulationtrong> trong>trong>oftrong>trong> osteogenesis, and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-trong>celltrong> acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain trong>trong>oftrong>trong> E2A is replaced by the DNA binding domain trong>trong>oftrong>trong> this protein, transforms trong>celltrong>s by constitutively activating transcription trong>trong>oftrong>trong> genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Mar 2011]

TRAJ30 Gene

T trong>celltrong> receptor alpha joining 30

TRAJ31 Gene

T trong>celltrong> receptor alpha joining 31

TRAJ33 Gene

T trong>celltrong> receptor alpha joining 33

TRAJ34 Gene

T trong>celltrong> receptor alpha joining 34

TRAJ35 Gene

T trong>celltrong> receptor alpha joining 35 (non-functional)

TRAJ36 Gene

T trong>celltrong> receptor alpha joining 36

TRAJ37 Gene

T trong>celltrong> receptor alpha joining 37

TRAJ38 Gene

T trong>celltrong> receptor alpha joining 38

TRAJ39 Gene

T trong>celltrong> receptor alpha joining 39

KIR3DS1 Gene

killer trong>celltrong> immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Aug 2013]

TAX1BP1 Gene

Tax1 (human T-trong>celltrong> leukemia virus type I) binding protein 1

This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation trong>trong>oftrong>trong> this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition trong>trong>oftrong>trong> inflammatory signaling pathways. Alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene.[provided by RefSeq, May 2011]

TAX1BP3 Gene

Tax1 (human T-trong>celltrong> leukemia virus type I) binding protein 3

CDC73 Gene

trong>celltrong> division cycle 73

This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component trong>trong>oftrong>trong> the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association trong>trong>oftrong>trong> 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]

TRBV20OR9-2 Gene

T trong>celltrong> receptor beta variable 20/OR9-2 (non-functional)

AAMP Gene

angio-associated, migratory trong>celltrong> protein

The gene is a member trong>trong>oftrong>trong> the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube formation and the migration trong>trong>oftrong>trong> endothelial trong>celltrong>s. It may also regulate smooth muscle trong>celltrong> migration via the RhoA pathway. The encoded protein can bind to heparin and may mediate heparin-sensitive trong>celltrong> adhesion. [provided by RefSeq, Oct 2014]

CDC26P1 Gene

trong>celltrong> division cycle 26 pseudogene 1

TRAV2 Gene

T trong>celltrong> receptor alpha variable 2

TRAV3 Gene

T trong>celltrong> receptor alpha variable 3 (gene/pseudogene)

TRAV4 Gene

T trong>celltrong> receptor alpha variable 4

TRAV6 Gene

T trong>celltrong> receptor alpha variable 6

TRAV7 Gene

T trong>celltrong> receptor alpha variable 7

PARD6G Gene

par-6 family trong>celltrong> polarity regulator gamma

PARD6B Gene

par-6 family trong>celltrong> polarity regulator beta

This gene is a member trong>trong>oftrong>trong> the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical trong>celltrong> division and trong>celltrong> polarization processes as a member trong>trong>oftrong>trong> a multi-protein complex. [provided by RefSeq, Jul 2008]

PARD6A Gene

par-6 family trong>celltrong> polarity regulator alpha

This gene is a member trong>trong>oftrong>trong> the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This trong>celltrong> membrane protein is involved in asymmetrical trong>celltrong> division and trong>celltrong> polarization processes as a member trong>trong>oftrong>trong> a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different istrong>trong>oftrong>trong>orms, have been characterized. [provided by RefSeq, Jul 2008]

NCCRP1 Gene

non-specific cytotoxic trong>celltrong> receptor protein 1 homolog (zebrafish)

MUC20 Gene

mucin 20, trong>celltrong> surface associated

This gene encodes a member trong>trong>oftrong>trong> the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus trong>trong>oftrong>trong> this family member associates with the multifunctional docking site trong>trong>oftrong>trong> the MET proto-oncogene and suppresses activation trong>trong>oftrong>trong> some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]

MUC21 Gene

mucin 21, trong>celltrong> surface associated

LOC644070 Gene

putative germ trong>celltrong>-specific gene 1-like protein 2

ICOS Gene

inducible T-trong>celltrong> co-stimulator

The protein encoded by this gene belongs to the CD28 and CTLA-4 trong>celltrong>-surface receptor family. It forms homodimers and plays an important role in trong>celltrong>-trong>celltrong> signaling, immune responses, and trong>regulationtrong> trong>trong>oftrong>trong> trong>celltrong> proliferation. [provided by RefSeq, Jul 2008]

LOC132386 Gene

epithelial trong>celltrong> adhesion molecule pseudogene

LOC100129601 Gene

trong>celltrong> division cycle associated 7 pseudogene

SPDYE11 Gene

speedy/RINGO trong>celltrong> cycle regulator family member E11

TTIM1 Gene

T-trong>celltrong> tumor invasion and metastasis 1

NKTR Gene

natural killer trong>celltrong> triggering receptor

This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface trong>trong>oftrong>trong> natural killer trong>celltrong>s and facilitates their binding to targets. Its expression is regulated by IL2 activation trong>trong>oftrong>trong> the trong>celltrong>s. [provided by RefSeq, Jul 2008]

LOC100128721 Gene

stromal trong>celltrong>-derived factor 2 pseudogene

TRAV22 Gene

T trong>celltrong> receptor alpha variable 22

TRAV21 Gene

T trong>celltrong> receptor alpha variable 21

TRAV27 Gene

T trong>celltrong> receptor alpha variable 27

TRAV25 Gene

T trong>celltrong> receptor alpha variable 25

TRAV24 Gene

T trong>celltrong> receptor alpha variable 24

TRAV28 Gene

T trong>celltrong> receptor alpha variable 28 (pseudogene)

TRBV25OR9-2 Gene

T trong>celltrong> receptor beta variable 25/OR9-2 (pseudogene)

CHL1 Gene

trong>celltrong> adhesion molecule L1-like

The protein encoded by this gene is a member trong>trong>oftrong>trong> the L1 gene family trong>trong>oftrong>trong> neural trong>celltrong> adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion trong>trong>oftrong>trong> one copy trong>trong>oftrong>trong> this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth trong>trong>oftrong>trong> certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]

BCC4 Gene

Basal trong>celltrong> carcinoma, susceptibility to, 4

TRDD3 Gene

T trong>celltrong> receptor delta diversity 3

TRDD2 Gene

T trong>celltrong> receptor delta diversity 2

TRDD1 Gene

T trong>celltrong> receptor delta diversity 1

LOC102724621 Gene

trong>celltrong> division cycle protein 27 homolog pseudogene

TRDC Gene

T trong>celltrong> receptor delta constant

PSCA Gene

prostate stem trong>celltrong> antigen

This gene encodes a glycosylphosphatidylinositol-anchored trong>celltrong> membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion trong>trong>oftrong>trong> prostate cancers and is also detected in cancers trong>trong>oftrong>trong> the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

TRG-AS1 Gene

T trong>celltrong> receptor gamma locus antisense RNA 1

ALCAM Gene

activated leukocyte trong>celltrong> adhesion molecule

This gene encodes activated leukocyte trong>celltrong> adhesion molecule (ALCAM), also known as CD166 (cluster trong>trong>oftrong>trong> differentiation 166), which is a member trong>trong>oftrong>trong> a subfamily trong>trong>oftrong>trong> immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extratrong>celltrong>ular domain. This protein binds to T-trong>celltrong> differentiation antigene CD6, and is implicated in the processes trong>trong>oftrong>trong> trong>celltrong> adhesion and migration. Multiple alternatively spliced transcript variants encoding different istrong>trong>oftrong>trong>orms have been found. [provided by RefSeq, Aug 2011]

HCST Gene

hematopoietic trong>celltrong> signal transducer

This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part trong>trong>oftrong>trong> the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part trong>trong>oftrong>trong> this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in trong>celltrong> survival and proliferation by activation trong>trong>oftrong>trong> NK and T trong>celltrong> responses. Alternative splicing results in two transcript variants encoding different istrong>trong>oftrong>trong>orms. [provided by RefSeq, Jul 2008]

SDF4 Gene

stromal trong>celltrong> derived factor 4

This gene encodes a stromal trong>celltrong> derived factor that is a member trong>trong>oftrong>trong> the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent trong>celltrong>ular activities. [provided by RefSeq, Sep 2011]

SDF2 Gene

stromal trong>celltrong>-derived factor 2

The protein encoded by this gene is believed to be a secretory protein. It has regions trong>trong>oftrong>trong> similarity to hydrophilic segments trong>trong>oftrong>trong> yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene trong>trong>oftrong>trong> this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]

NKG7 Gene

natural killer trong>celltrong> granule protein 7

TRBV22OR9-2 Gene

T trong>celltrong> receptor beta variable 22/OR9-2 (pseudogene)

GSG2 Gene

germ trong>celltrong> associated 2 (haspin)

GSG1 Gene

germ trong>celltrong> associated 1

TRGV6 Gene

T trong>celltrong> receptor gamma variable 6 (pseudogene)

TRGV7 Gene

T trong>celltrong> receptor gamma variable 7 (pseudogene)

TRGV4 Gene

T trong>celltrong> receptor gamma variable 4

TRGV5 Gene

T trong>celltrong> receptor gamma variable 5

TRGV2 Gene

T trong>celltrong> receptor gamma variable 2

TRGV3 Gene

T trong>celltrong> receptor gamma variable 3

TRGV1 Gene

T trong>celltrong> receptor gamma variable 1 (non-functional)

TRGV8 Gene

T trong>celltrong> receptor gamma variable 8

TRGV9 Gene

T trong>celltrong> receptor gamma variable 9

TRGVB Gene

T trong>celltrong> receptor gamma variable B (pseudogene)

TRGVA Gene

T trong>celltrong> receptor gamma variable A (pseudogene)

TRAT1 Gene

T trong>celltrong> receptor associated transmembrane adaptor 1

KIR2DL5B Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

KIR2DL5A Gene

killer trong>celltrong> immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A

Killer trong>celltrong> immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer trong>celltrong>s and subsets trong>trong>oftrong>trong> T trong>celltrong>s. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content trong>trong>oftrong>trong> the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number trong>trong>oftrong>trong> extratrong>celltrong>ular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets trong>trong>oftrong>trong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>trong>oftrong>trong> the immune response. [provided by RefSeq, Jul 2008]

TRAJ58 Gene

T trong>celltrong> receptor alpha joining 58 (non-functional)

TRAJ56 Gene

T trong>celltrong> receptor alpha joining 56

TRAJ57 Gene

T trong>celltrong> receptor alpha joining 57

TRAJ54 Gene

T trong>celltrong> receptor alpha joining 54

PECAM1 Gene

platelet/endothelial trong>celltrong> adhesion molecule 1

The protein encoded by this gene is found on the surface trong>trong>oftrong>trong> platelets, monocytes, neutrophils, and some types trong>trong>oftrong>trong> T-trong>celltrong>s, and makes up a large portion trong>trong>oftrong>trong> endothelial trong>celltrong> intertrong>celltrong>ular junctions. The encoded protein is a member trong>trong>oftrong>trong> the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]

TAL1 Gene

T-trong>celltrong> acute lymphocytic leukemia 1

TAL2 Gene

T-trong>celltrong> acute lymphocytic leukemia 2

This intronless gene encodes a helix-loop-helix protein. Translocations between this gene on chromosome 9 and the T-trong>celltrong> receptor beta-chain locus on chromosome 7 have been associated with activation trong>trong>oftrong>trong> the T-trong>celltrong> acute lymphocytic leukemia 2 gene and T-trong>celltrong> acute lymphoblastic leukemia. [provided by RefSeq, Mar 2009]

TRAV26-1 Gene

T trong>celltrong> receptor alpha variable 26-1

TRAV26-2 Gene

T trong>celltrong> receptor alpha variable 26-2

TRBV22-1 Gene

T trong>celltrong> receptor beta variable 22-1 (pseudogene)

TRAV9-1 Gene

T trong>celltrong> receptor alpha variable 9-1

TRAV9-2 Gene

T trong>celltrong> receptor alpha variable 9-2

CDCA4P2 Gene

trong>celltrong> division cycle associated 4 pseudogene 2

PBX2P1 Gene

pre-B-trong>celltrong> leukemia homeobox 2 pseudogene 1

TLX1 Gene

T-trong>celltrong> leukemia homeobox 1

This gene encodes a nuclear transcription factor that belongs to the NK-linked or NK-like (NKL) subfamily trong>trong>oftrong>trong> homeobox genes. The encoded protein is required for normal development trong>trong>oftrong>trong> the spleen during embryogenesis. This protein is also involved in specification trong>trong>oftrong>trong> neuronal trong>celltrong> fates. Ectopic expression trong>trong>oftrong>trong> this gene due to chromosomal translocations is associated with certain T-trong>celltrong> acute lymphoblastic leukemias. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]

TLX2 Gene

T-trong>celltrong> leukemia homeobox 2

This gene is a member trong>trong>oftrong>trong> an orphan homeobox-containing transcription factor family. Studies trong>trong>oftrong>trong> the mouse ortholog have shown that the encoded protein is crucial for the development trong>trong>oftrong>trong> the enteric nervous system; in humans, loss-trong>trong>oftrong>trong>-function may play a role in tumorigenesis trong>trong>oftrong>trong> gastrointestinal stromal tumors. [provided by RefSeq, May 2010]

TLX3 Gene

T-trong>celltrong> leukemia homeobox 3

RNX (HOX11L2, TLX3) belongs to a family trong>trong>oftrong>trong> orphan homeobox genes that encode DNA-binding nuclear transcription factors. Members trong>trong>oftrong>trong> the HOX11 gene family are characterized by a threonine-47 replacing cytosine in the highly conserved homeodomain (Dear et al., 1993 [PubMed 8099440]).[supplied by OMIM, Mar 2008]

CDC37P1 Gene

trong>celltrong> division cycle 37 pseudogene 1

CDC37P2 Gene

trong>celltrong> division cycle 37 pseudogene 2

BCL7C Gene

B-trong>celltrong> CLL/lymphoma 7C

This gene is identified by the similarity trong>trong>oftrong>trong> its product to the N-terminal region trong>trong>oftrong>trong> BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma trong>celltrong> line. The function trong>trong>oftrong>trong> this gene has not yet been determined. Two transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Nov 2013]

BCL7B Gene

B-trong>celltrong> CLL/lymphoma 7B

This gene encodes a member trong>trong>oftrong>trong> the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment trong>trong>oftrong>trong> BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma trong>celltrong> line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]

BCL7A Gene

B-trong>celltrong> CLL/lymphoma 7A

This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma trong>celltrong> line. As a result trong>trong>oftrong>trong> the gene translocation, the N-terminal region trong>trong>oftrong>trong> the gene product is disrupted, which is thought to be related to the pathogenesis trong>trong>oftrong>trong> a subset trong>trong>oftrong>trong> high-grade B trong>celltrong> non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those trong>trong>oftrong>trong> BCL7B and BCL7C. Two transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

BTG1P1 Gene

B-trong>celltrong> translocation gene 1 pseudogene 1

MSE Gene

myelinating Schwann trong>celltrong> element

GDNF Gene

glial trong>celltrong> derived neurotrophic factor

This gene encodes a highly conserved neurotrophic factor. The recombinant form trong>trong>oftrong>trong> this protein was shown to promote the survival and differentiation trong>trong>oftrong>trong> dopaminergic neurons in culture, and was able to prevent apoptosis trong>trong>oftrong>trong> motor neurons induced by axotomy. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form trong>trong>oftrong>trong> the protein is a ligand for the product trong>trong>oftrong>trong> the RET (rearranged during transfection) protooncogene. Multiple transcript variants encoding different istrong>trong>oftrong>trong>orms have been found for this gene. Mutations in this gene may be associated with Hirschsprung disease. [provided by RefSeq, Jun 2010]

CDC45 Gene

trong>celltrong> division cycle 45

The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation trong>trong>oftrong>trong> DNA replication. Cdc45 is a member trong>trong>oftrong>trong> the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps trong>trong>oftrong>trong> DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies trong>trong>oftrong>trong> the similar gene in Xenopus suggested that this protein play a pivotal role in the loading trong>trong>oftrong>trong> DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

CDC40 Gene

trong>celltrong> division cycle 40

Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different trong>celltrong>ular processes: pre-mRNA splicing and trong>celltrong> cycle progression. It suggests that this protein may play a role in trong>celltrong> cycle progression. [provided by RefSeq, Jul 2008]

CDC42 Gene

trong>celltrong> division cycle 42

The protein encoded by this gene is a small GTPase trong>trong>oftrong>trong> the Rho-subfamily, which regulates signaling pathways that control diverse trong>celltrong>ular functions including trong>celltrong> morphology, migration, endocytosis and trong>celltrong> cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product trong>trong>oftrong>trong> oncogene Dbl was reported to specifically catalyze the dissociation trong>trong>oftrong>trong> GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing trong>trong>oftrong>trong> this gene results in multiple transcript variants. Pseudogenes trong>trong>oftrong>trong> this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

TCL1B Gene

T-trong>celltrong> leukemia/lymphoma 1B

TCL1A Gene

T-trong>celltrong> leukemia/lymphoma 1A

Overexpression trong>trong>oftrong>tr