Name

Achilles Cell Line Gene Essentiality Prtrong>oftrong>iles Dataset

From Achilles

fitness scores for cell lines following single gene knockdowns

BioGPS Cell Line Gene Expression Prtrong>oftrong>iles Dataset

From BioGPS

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

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

From BioGPS

mRNA expression prtrong>oftrong>iles for human tissues and cell types

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

From BioGPS

mRNA expression prtrong>oftrong>iles for mouse tissues and cell types

CCLE Cell Line Gene CNV Prtrong>oftrong>iles Dataset

From Cancer Cell Line Encyclopedia

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

CCLE Cell Line Gene Expression Prtrong>oftrong>iles Dataset

From Cancer Cell Line Encyclopedia

mRNA expression prtrong>oftrong>iles for cancer cell lines

CCLE Cell Line Gene Mutation Prtrong>oftrong>iles Dataset

From Cancer Cell Line Encyclopedia

gene-level mutation prtrong>oftrong>iles for cancer cell lines

COSMIC Cell Line Gene CNV Prtrong>oftrong>iles Dataset

From Catalogue trong>oftrong> Somatic Mutations In Cancer

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

COSMIC Cell Line Gene Mutation Prtrong>oftrong>iles Dataset

From Catalogue trong>oftrong> Somatic Mutations In Cancer

gene mutations in cancer cell lines from low-throughput or high-throughput studies

GDSC Cell Line Gene Expression Prtrong>oftrong>iles Dataset

From Genomics trong>oftrong> Drug Sensitivity in Cancer

mRNA expression prtrong>oftrong>iles for cancer cell lines

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

From Heiser et al., PNAS, 2011

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

HPA Cell Line Gene Expression Prtrong>oftrong>iles Dataset

From Human Protein Atlas

mRNA expression prtrong>oftrong>iles for cell lines

HPM Cell Type and Tissue Protein Expression Prtrong>oftrong>iles Dataset

From Human Proteome Map

protein expression prtrong>oftrong>iles for tissues and cell types

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

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

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

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

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

mRNA expression prtrong>oftrong>iles for cancer cell lines

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

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

gene mutations in cancer cell lines

ProteomicsDB Cell Type and Tissue Protein Expression Prtrong>oftrong>iles Dataset

From Proteomics Database

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

Roadmap Epigenomics Cell and Tissue DNA Accessibility Prtrong>oftrong>iles Dataset

From Roadmap Epigenomics

DNA accessibility prtrong>oftrong>iles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue DNA Methylation Prtrong>oftrong>iles Dataset

From Roadmap Epigenomics

DNA methylation prtrong>oftrong>iles for primary cell types and tissues

Roadmap Epigenomics Cell and Tissue Gene Expression Prtrong>oftrong>iles Dataset

From Roadmap Epigenomics

mRNA expression prtrong>oftrong>iles for primary cell types and tissues

GREB1L Gene

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

RPRD1A Gene

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

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

RPRD1B Gene

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

RPRD2 Gene

trong>regulationtrong> trong>oftrong> 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>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

LOC100130602 Gene

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

ID2B Gene

inhibitor trong>oftrong> 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>oftrong> 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>oftrong> SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing trong>oftrong> 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>oftrong> the distal short arm trong>oftrong> chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype trong>oftrong> the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable trong>oftrong> reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number trong>oftrong> cancer patients. This protein has also been shown to be a member trong>oftrong> the NELF (trong>negativetrong> elongation factor) protein complex that participates in the trong>regulationtrong> trong>oftrong> 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>oftrong> 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>oftrong> 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>oftrong> transcription 1, TBP-binding (trong>negativetrong> ctrong>oftrong>actor 2)

This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels trong>oftrong> 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>oftrong> DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation trong>oftrong> higher order complexes, inhibits the assembly trong>oftrong> the preinitiation complex and controls the rate trong>oftrong> RNA polymerase II transcription. [provided by RefSeq, Jul 2008]

NRROS Gene

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

NRIR Gene

trong>negativetrong> regulator trong>oftrong> 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>oftrong> interferon response. [provided by RefSeq, Feb 2015]

DRAP1 Gene

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

Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation trong>oftrong> transcription from eukaryotic protein-encoding genes requires the assembly trong>oftrong> a large multiprotein complex consisting trong>oftrong> 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>oftrong> TFIID and prevents the formation trong>oftrong> an active transcription complex by precluding the entry trong>oftrong> TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor trong>oftrong> 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>oftrong> antiviral response (non-protein coding)

NELFCD Gene

trong>negativetrong> elongation factor complex member C/D

The NELF complex trong>oftrong> 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>oftrong> the NELF complex. Alternative translation initiation site usage results in the formation trong>oftrong> two istrong>oftrong>orms with different N-termini. [provided by RefSeq, Jul 2008]

NUB1 Gene

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

This gene encodes a protein that functions as a trong>negativetrong> regulator trong>oftrong> 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>oftrong> 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>oftrong> this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

ID4 Gene

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

This gene encodes a member trong>oftrong> the inhibitor trong>oftrong> 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>oftrong> the encoded protein depends on the protein binding partner. [provided by RefSeq, Dec 2011]

ID2 Gene

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

The protein encoded by this gene belongs to the inhibitor trong>oftrong> DNA binding family, members trong>oftrong> which are transcriptional regulators that contain a helix-loop-helix (HLH) domain but not a basic domain. Members trong>oftrong> the inhibitor trong>oftrong> DNA binding family inhibit the functions trong>oftrong> 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 cell differentiation. A pseudogene trong>oftrong> this gene is located on chromosome 3. [provided by RefSeq, Aug 2011]

ID3 Gene

inhibitor trong>oftrong> 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>oftrong> any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]

ID1 Gene

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

CRTAM Gene

cytotoxic and trong>regulatorytrong> T cell molecule

The CRTAM gene is upregulated in CD4 (see MIM 186940)-positive and CD8 (see CD8A; MIM 186910)-positive T cells 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]

NSRP1 Gene

nuclear speckle splicing trong>regulatorytrong> protein 1

CKS1B Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B

CKS1B protein binds to the catalytic subunit trong>oftrong> the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one trong>oftrong> them encodes a protein. [provided by RefSeq, Sep 2008]

PRKAR2A Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type II, alpha

cAMP is a signaling molecule important for a variety trong>oftrong> cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation trong>oftrong> different target proteins. The inactive kinase holoenzyme is a tetramer composed trong>oftrong> two trong>regulatorytrong> and two catalytic subunits. cAMP causes the dissociation trong>oftrong> the inactive holoenzyme into a dimer trong>oftrong> trong>regulatorytrong> subunits bound to four cAMP and two free monomeric catalytic subunits. Four different trong>regulatorytrong> subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one trong>oftrong> the trong>regulatorytrong> subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization trong>oftrong> cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]

PRKAR2B Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type II, beta

cAMP is a signaling molecule important for a variety trong>oftrong> cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation trong>oftrong> different target proteins. The inactive kinase holoenzyme is a tetramer composed trong>oftrong> two trong>regulatorytrong> and two catalytic subunits. cAMP causes the dissociation trong>oftrong> the inactive holoenzyme into a dimer trong>oftrong> trong>regulatorytrong> subunits bound to four cAMP and two free monomeric catalytic subunits. Four different trong>regulatorytrong> subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one trong>oftrong> the trong>regulatorytrong> subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity trong>oftrong> the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]

PPP1R1AP2 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 1A pseudogene 2

RIIAD1 Gene

trong>regulatorytrong> subunit trong>oftrong> type II PKA R-subunit (RIIa) domain containing 1

DRC7 Gene

dynein trong>regulatorytrong> complex subunit 7

DRC1 Gene

dynein trong>regulatorytrong> complex subunit 1

PPP1R26 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 26

PPP1R27 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 27

PPP1R21 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 21

LOC100421250 Gene

epithelial splicing trong>regulatorytrong> protein 1 pseudogene

PPP1R13B Gene

protein phosphatase 1, trong>regulatorytrong> subunit 13B

This gene encodes a member trong>oftrong> the ASPP (apoptosis-stimulating protein trong>oftrong> p53) family trong>oftrong> p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction trong>oftrong> apoptosis by p53-family proteins. They promote DNA binding and transactivation trong>oftrong> p53-family proteins on the promoters trong>oftrong> proapoptotic genes. Expression trong>oftrong> this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]

PPP1R13L Gene

protein phosphatase 1, trong>regulatorytrong> subunit 13 like

IASPP is one trong>oftrong> the most evolutionarily conserved inhibitors trong>oftrong> p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators trong>oftrong> p53.[supplied by OMIM, Mar 2008]

LOC100631380 Gene

protein phosphatase 6, trong>regulatorytrong> subunit 2 pseudogene 1

KCNMB3P1 Gene

potassium channel subfamily M trong>regulatorytrong> beta subunit 3 pseudogene 1

LOC100421419 Gene

protein phosphatase 4, trong>regulatorytrong> subunit 2 pseudogene

RIF1 Gene

replication timing trong>regulatorytrong> factor 1

This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

SREK1 Gene

splicing trong>regulatorytrong> glutamine/lysine-rich protein 1

This gene encodes a member trong>oftrong> a family trong>oftrong> serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Jul 2012]

PDPR Gene

pyruvate dehydrogenase phosphatase trong>regulatorytrong> subunit

SIRPAP1 Gene

signal-trong>regulatorytrong> protein alpha pseudogene 1

PPP1R10P1 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 10 pseudogene 1

LOC102725016 Gene

serine/threonine-protein phosphatase 2A trong>regulatorytrong> subunit B'' subunit beta

PAFAH1B1P1 Gene

platelet-activating factor acetylhydrolase 1b, trong>regulatorytrong> subunit 1 pseudogene 1

CD46P1 Gene

CD46 molecule, complement trong>regulatorytrong> protein pseudogene 1

SIRPG Gene

signal-trong>regulatorytrong> protein gamma

The protein encoded by this gene is a member trong>oftrong> the signal-trong>regulatorytrong> protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the trong>negativetrong> trong>regulationtrong> trong>oftrong> receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been described. [provided by RefSeq, Jul 2008]

SIRPD Gene

signal-trong>regulatorytrong> protein delta

SIRPA Gene

signal-trong>regulatorytrong> protein alpha

The protein encoded by this gene is a member trong>oftrong> the signal-trong>regulatorytrong>-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the trong>negativetrong> trong>regulationtrong> trong>oftrong> receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues trong>oftrong> this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates trong>oftrong> PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members trong>oftrong> the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]

LOC390705 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B'', beta pseudogene

PPP1R14D Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14D

Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]

PPP1R14B Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14B

PPP1R14C Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14C

The degree trong>oftrong> protein phosphorylation is regulated by a balance trong>oftrong> protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor trong>oftrong> PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]

PPP1R14A Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14A

The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor trong>oftrong> smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition trong>oftrong> myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been noted for this gene. [provided by RefSeq, Sep 2011]

LOC100133326 Gene

serine/threonine-protein phosphatase 4 trong>regulatorytrong> subunit 2-like

KANSL1L Gene

KAT8 trong>regulatorytrong> NSL complex subunit 1-like

PREB Gene

prolactin trong>regulatorytrong> element binding

This gene encodes a protein that specifically binds to a Pit1-binding element trong>oftrong> the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some trong>oftrong> the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]

PPP1R12BP1 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 12B pseudogene, Y-linked 1

PPP1R12BP2 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 12B Y-linked pseudogene 2

RSC1A1 Gene

trong>regulatorytrong> solute carrier protein, family 1, member 1

CKS2 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 2

CKS2 protein binds to the catalytic subunit trong>oftrong> the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]

LOC100418484 Gene

KAT8 trong>regulatorytrong> NSL complex subunit 1 pseudogene

DPM2 Gene

dolichyl-phosphate mannosyltransferase polypeptide 2, trong>regulatorytrong> subunit

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor trong>oftrong> mannosyl residues on the lumenal side trong>oftrong> the endoplasmic reticulum (ER). Lack trong>oftrong> Dol-P-Man results in defective surface expression trong>oftrong> GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side trong>oftrong> the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression trong>oftrong> DPM1 and also enhances the binding trong>oftrong> dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]

CD59 Gene

CD59 molecule, complement trong>regulatorytrong> protein

This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor trong>oftrong> the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly trong>oftrong> this complex, thereby inhibiting the incorporation trong>oftrong> multiple copies trong>oftrong> C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation trong>oftrong> T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

PRKAR1AP Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type I, alpha pseudogene

LOC100130582 Gene

myosin, light chain 9, trong>regulatorytrong> pseudogene

LOC100421808 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, gamma pseudogene

LOC100421802 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, alpha pseudogene

LOC647208 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B'', beta pseudogene

PPP2R2DP1 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, delta pseudogene 1

LOC149935 Gene

CDK5 trong>regulatorytrong> subunit associated protein 3 pseudogene

PPP1R26P5 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 26 pseudogene 5

PPP1R26P2 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 26 pseudogene 2

ESRP1 Gene

epithelial splicing trong>regulatorytrong> protein 1

ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

RFX4 Gene

trong>regulatorytrong> factor X, 4 (influences HLA class II expression)

This gene is a member trong>oftrong> the trong>regulatorytrong> factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to trong>regulatorytrong> factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with trong>regulatorytrong> factors X2 and X3, but it does not interact with trong>regulatorytrong> factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]

RFX5 Gene

trong>regulatorytrong> factor X, 5 (influences HLA class II expression)

A lack trong>oftrong> MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box trong>oftrong> MHC-II promoters. The lack trong>oftrong> RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit trong>oftrong> RFX (Steimle et al., 1995). RFX5 is the fifth member trong>oftrong> the growing family trong>oftrong> DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures trong>oftrong> only two have been determined. [provided by RefSeq, Jul 2008]

RFX7 Gene

trong>regulatorytrong> factor X, 7

RFX7 is a member trong>oftrong> the trong>regulatorytrong> factor X (RFX) family trong>oftrong> transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]

RFX1 Gene

trong>regulatorytrong> factor X, 1 (influences HLA class II expression)

This gene is a member trong>oftrong> the trong>regulatorytrong> factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to trong>regulatorytrong> factors X2, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with RFX family members X2, X3, and X5, but not with X4. This protein binds to the X-boxes trong>oftrong> MHC class II genes and is essential for their expression. Also, it can bind to an inverted repeat that is required for expression trong>oftrong> hepatitis B virus genes. [provided by RefSeq, Jul 2008]

RFX2 Gene

trong>regulatorytrong> factor X, 2 (influences HLA class II expression)

This gene is a member trong>oftrong> the trong>regulatorytrong> factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to trong>regulatorytrong> factors X1, X3, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. This protein can bind to cis elements in the promoter trong>oftrong> the IL-5 receptor alpha gene. Two transcript variants encoding different istrong>oftrong>orms have been described for this gene, and both variants utilize alternative polyadenylation sites. [provided by RefSeq, Jul 2008]

RFX3 Gene

trong>regulatorytrong> factor X, 3 (influences HLA class II expression)

This gene is a member trong>oftrong> the trong>regulatorytrong> factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to trong>regulatorytrong> factors X1, X2, X4, and X5. It is a transcriptional activator that can bind DNA as a monomer or as a heterodimer with other RFX family members. Multiple transcript variants encoding different istrong>oftrong>orms have been described for this gene. [provided by RefSeq, Aug 2013]

FENDRR Gene

FOXF1 adjacent non-coding developmental trong>regulatorytrong> RNA

This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development trong>oftrong> the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation trong>oftrong> the promoters trong>oftrong> target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression trong>oftrong> gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

LOC100422204 Gene

trong>regulatorytrong> solute carrier protein, family 1, member 1 pseudogene

PPP1R8P1 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 8 pseudogene 1

PPP2R1B Gene

protein phosphatase 2, trong>regulatorytrong> subunit A, beta

This gene encodes a constant trong>regulatorytrong> subunit trong>oftrong> protein phosphatase 2. Protein phosphatase 2 is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The constant trong>regulatorytrong> subunit A serves as a scaffolding molecule to coordinate the assembly trong>oftrong> the catalytic subunit and a variable trong>regulatorytrong> B subunit. This gene encodes a beta istrong>oftrong>orm trong>oftrong> the constant trong>regulatorytrong> subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

PPP1R26P4 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 26 pseudogene 4

JADRR Gene

JADE1 adjacent trong>regulatorytrong> RNA

TIGAR Gene

TP53 induced glycolysis trong>regulatorytrong> phosphatase

This gene is regulated as part trong>oftrong> the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain trong>oftrong> 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>oftrong> this protein also protects cells 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]

MYL12B Gene

myosin, light chain 12B, trong>regulatorytrong>

The activity trong>oftrong> nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation trong>oftrong> a trong>regulatorytrong> light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly trong>oftrong> myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]

MYL12A Gene

myosin, light chain 12A, trong>regulatorytrong>, non-sarcomeric

This gene encodes a nonsarcomeric myosin trong>regulatorytrong> light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor trong>oftrong> p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene trong>oftrong> this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]

MYLIP Gene

myosin trong>regulatorytrong> light chain interacting protein

The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin trong>regulatorytrong> light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin trong>regulatorytrong> light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]

CKS1BP4 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 4

PPP2R4 Gene

protein phosphatase 2A activator, trong>regulatorytrong> subunit 4

Protein phosphatase 2A is one trong>oftrong> the four major Ser/Thr phosphatases and is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed trong>oftrong> a structural subunit A, a catalytic subunit C, and a trong>regulatorytrong> subunit B. The trong>regulatorytrong> subunit is encoded by a diverse set trong>oftrong> genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different trong>regulatorytrong> subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product trong>oftrong> this gene belongs to the B' family. This gene encodes a specific phosphotyrosyl phosphatase activator trong>oftrong> the dimeric form trong>oftrong> protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]

ADIRF Gene

adipogenesis trong>regulatorytrong> factor

APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]

LOC101059972 Gene

myosin, light chain 9, trong>regulatorytrong> pseudogene

LOC100132773 Gene

serine/threonine-protein phosphatase 4 trong>regulatorytrong> subunit 2-like

PAFAH1B1 Gene

platelet-activating factor acetylhydrolase 1b, trong>regulatorytrong> subunit 1 (45kDa)

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit trong>oftrong> the intracellular Ib istrong>oftrong>orm trong>oftrong> platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal trong>oftrong> the acetyl group at the SN-2 position trong>oftrong> platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other istrong>oftrong>orms trong>oftrong> intracellular platelet-activating factor acetylhydrolase exist: one composed trong>oftrong> multiple subunits, the other, a single subunit. In addition, a single-subunit istrong>oftrong>orm trong>oftrong> this enzyme is found in serum. [provided by RefSeq, Apr 2009]

IRF2BP2 Gene

interferon trong>regulatorytrong> factor 2 binding protein 2

This gene encodes an interferon trong>regulatorytrong> factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain trong>oftrong> IRF2. Alternative splicing results in multiple transcript variants encoding distinct istrong>oftrong>orms. [provided by RefSeq, Jul 2008]

IRF2BP1 Gene

interferon trong>regulatorytrong> factor 2 binding protein 1

IRF2BPL Gene

interferon trong>regulatorytrong> factor 2 binding protein-like

This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

PIK3R6 Gene

phosphoinositide-3-kinase, trong>regulatorytrong> subunit 6

Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed trong>oftrong> a catalytic subunit and one trong>oftrong> several trong>regulatorytrong> subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a trong>regulatorytrong> subunit, and is distantly related to the phosphoinositide-3-kinase, trong>regulatorytrong> subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation trong>oftrong> the kinase subunit downstream trong>oftrong> G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

PIK3R5 Gene

phosphoinositide-3-kinase, trong>regulatorytrong> subunit 5

Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring trong>oftrong> phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD trong>regulatorytrong> subunit trong>oftrong> the class I PI3K gamma complex, which is a dimeric enzyme, consisting trong>oftrong> a 110 kD catalytic subunit gamma and a trong>regulatorytrong> subunit trong>oftrong> either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct istrong>oftrong>orms have been found. [provided by RefSeq, Oct 2011]

PIK3R4 Gene

phosphoinositide-3-kinase, trong>regulatorytrong> subunit 4

PIK3R3 Gene

phosphoinositide-3-kinase, trong>regulatorytrong> subunit 3 (gamma)

PIK3R2 Gene

phosphoinositide-3-kinase, trong>regulatorytrong> subunit 2 (beta)

Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer trong>oftrong> a trong>regulatorytrong> and a catalytic subunit. The protein encoded by this gene is a trong>regulatorytrong> component trong>oftrong> PI3K. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2012]

PIK3R1 Gene

phosphoinositide-3-kinase, trong>regulatorytrong> subunit 1 (alpha)

Phosphatidylinositol 3-kinase phosphorylates the inositol ring trong>oftrong> phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a trong>regulatorytrong> subunit trong>oftrong> either 85, 55, or 50 kD. This gene encodes the 85 kD trong>regulatorytrong> subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions trong>oftrong> insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing trong>oftrong> this gene results in four transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jun 2011]

PPP1R14BP5 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14B pseudogene 5

PRKAR1A Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type I, alpha

cAMP is a signaling molecule important for a variety trong>oftrong> cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation trong>oftrong> different target proteins. The inactive kinase holoenzyme is a tetramer composed trong>oftrong> two trong>regulatorytrong> and two catalytic subunits. cAMP causes the dissociation trong>oftrong> the inactive holoenzyme into a dimer trong>oftrong> trong>regulatorytrong> subunits bound to four cAMP and two free monomeric catalytic subunits. Four different trong>regulatorytrong> subunits and three catalytic subunits have been identified in humans. This gene encodes one trong>oftrong> the trong>regulatorytrong> subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression trong>oftrong> seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit trong>oftrong> the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different istrong>oftrong>orms have been observed. [provided by RefSeq, Jan 2013]

PRKAR1B Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type I, beta

Cyclic AMP-dependent protein kinase A (PKA) is an essential enzyme in the signaling pathway trong>oftrong> the second messenger cAMP. Through phosphorylation trong>oftrong> target proteins, PKA controls many biochemical events in the cell including trong>regulationtrong> trong>oftrong> metabolism, ion transport, and gene transcription. The PKA holoenzyme is composed trong>oftrong> 2 trong>regulatorytrong> and 2 catalytic subunits and dissociates from the trong>regulatorytrong> subunits upon binding trong>oftrong> cAMP.[supplied by OMIM, Jun 2009]

JMY Gene

junction mediating and trong>regulatorytrong> protein, p53 ctrong>oftrong>actor

PPP1R14BP4 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14B pseudogene 4

PPP1R14BP2 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14B pseudogene 2

PPP1R14BP3 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14B pseudogene 3

PPP1R14BP1 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 14B pseudogene 1

PPP1R3G Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3G

PPP1R3F Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3F

This gene encodes a protein that has been identified as one trong>oftrong> several type-1 protein phosphatase (PP1) trong>regulatorytrong> subunits. One or two trong>oftrong> these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the trong>regulatorytrong> subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PPP1R3E Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3E

PPP1R3D Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3D

Phosphorylation trong>oftrong> serine and threonine residues in proteins is a crucial step in the trong>regulationtrong> trong>oftrong> many cellular functions ranging from hormonal trong>regulationtrong> to cell division and even short-term memory. The level trong>oftrong> phosphorylation is controlled by the opposing actions trong>oftrong> protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 trong>oftrong> 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various trong>regulatorytrong> subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit trong>oftrong> PP1. [provided by RefSeq, Jul 2008]

PPP1R3C Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3C

This gene encodes a trong>regulatorytrong> subunit trong>oftrong> protein phosphatase-1 (PP1). PP1 catalyzes reversible protein phosphorylation, which is important in a wide range trong>oftrong> cellular activities: neuronal, muscular, RNA splicing, protein synthesis, cell death, and glycogen metabolism, to name just a few. By interacting with different trong>regulatorytrong> subunits, PP1 is directed to different parts trong>oftrong> the cell, to different substrates, or to respond to extracellular signals. [provided by RefSeq, Oct 2011]

PPP1R3B Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3B

This gene encodes the catalytic subunit trong>oftrong> the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes trong>oftrong> the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]

PPP1R3A Gene

protein phosphatase 1, trong>regulatorytrong> subunit 3A

The glycogen-associated form trong>oftrong> protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed trong>oftrong> a 37-kD catalytic subunit and a 124-kD targeting and trong>regulatorytrong> subunit. This gene encodes the trong>regulatorytrong> subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation trong>oftrong> glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]

PPP1R37 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 37

PPP1R36 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 36

PPP1R35 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 35

PPP1R32 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 32

PPP1R12A Gene

protein phosphatase 1, trong>regulatorytrong> subunit 12A

Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit trong>oftrong> myosin phosphatase, is one trong>oftrong> the subunits trong>oftrong> myosin phosphatase. Myosin phosphatase regulates the interaction trong>oftrong> actin and myosin downstream trong>oftrong> the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction trong>oftrong> smooth muscle and interaction trong>oftrong> actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form trong>oftrong> RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) trong>oftrong> myosin phosphatase, which regulates the extent trong>oftrong> phosphorylation trong>oftrong> MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression trong>oftrong> RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation trong>oftrong> MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action trong>oftrong> Rho-kinase. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jan 2009]

PPP1R12B Gene

protein phosphatase 1, trong>regulatorytrong> subunit 12B

Myosin phosphatase is a protein complex comprised trong>oftrong> three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large trong>regulatorytrong> subunit (MYPT, myosin phosphatase target) and small trong>regulatorytrong> subunit (sm-M20). Two istrong>oftrong>orms trong>oftrong> MYPT have been isolated--MYPT1 and MYPT2, the first trong>oftrong> which is widely expressed, and the second trong>oftrong> which may be specific to heart, skeletal muscle, and brain. Each trong>oftrong> the MYPT istrong>oftrong>orms functions to bind PP1c-delta and increase phosphatase activity. This locus encodes both MYTP2 and M20. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been identified. Related pseudogenes have been defined on the Y chromosome. [provided by RefSeq, Oct 2011]

PPP1R12C Gene

protein phosphatase 1, trong>regulatorytrong> subunit 12C

The gene encodes a subunit trong>oftrong> myosin phosphatase. The encoded protein regulates the catalytic activity trong>oftrong> protein phosphatase 1 delta and assembly trong>oftrong> the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Oct 2012]

PPP6R2 Gene

protein phosphatase 6, trong>regulatorytrong> subunit 2

Protein phosphatase trong>regulatorytrong> subunits, such as SAPS2, modulate the activity trong>oftrong> protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization trong>oftrong> the holoenzyme. SAPS2 is a trong>regulatorytrong> subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

PPP6R3 Gene

protein phosphatase 6, trong>regulatorytrong> subunit 3

Protein phosphatase trong>regulatorytrong> subunits, such as SAPS3, modulate the activity trong>oftrong> protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization trong>oftrong> the holoenzyme. SAPS3 is a trong>regulatorytrong> subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

PPP6R1 Gene

protein phosphatase 6, trong>regulatorytrong> subunit 1

Protein phosphatase trong>regulatorytrong> subunits, such as SAPS1, modulate the activity trong>oftrong> protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization trong>oftrong> the holoenzyme. SAPS1 is a trong>regulatorytrong> subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]

PPP1R26P1 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 26 pseudogene 1

LOC100131868 Gene

serine/threonine-protein phosphatase 4 trong>regulatorytrong> subunit 2-like

LOC100422398 Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type II, beta pseudogene

LOC100418589 Gene

myosin, light chain 12B, trong>regulatorytrong> pseudogene

STARP1 Gene

steroidogenic acute trong>regulatorytrong> protein pseudogene 1

CDKAL1 Gene

CDK5 trong>regulatorytrong> subunit associated protein 1-like 1

The protein encoded by this gene is a member trong>oftrong> the methylthiotransferase family. The function trong>oftrong> this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron trong>oftrong> this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]

PPP4R4 Gene

protein phosphatase 4, trong>regulatorytrong> subunit 4

The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number trong>oftrong> cytoplasmic proteins. Arrays trong>oftrong> HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region trong>oftrong> this protein has some similarity to the constant trong>regulatorytrong> domain trong>oftrong> the protein phosphatase 2A PR65/A subunit. The function trong>oftrong> this particular gene product has not been determined. Alternative splicing has been observed for this gene and two transcript variants encoding distinct istrong>oftrong>orms have been identified. [provided by RefSeq, Jul 2008]

PPP4R1 Gene

protein phosphatase 4, trong>regulatorytrong> subunit 1

This gene encodes one trong>oftrong> several alternate trong>regulatorytrong> subunits trong>oftrong> serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including trong>regulationtrong> trong>oftrong> HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

PPP4R2 Gene

protein phosphatase 4, trong>regulatorytrong> subunit 2

KANSL3 Gene

KAT8 trong>regulatorytrong> NSL complex subunit 3

KANSL2 Gene

KAT8 trong>regulatorytrong> NSL complex subunit 2

KANSL1 Gene

KAT8 trong>regulatorytrong> NSL complex subunit 1

This gene encodes a nuclear protein that is a subunit trong>oftrong> two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit trong>oftrong> both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

CDK5R1 Gene

cyclin-dependent kinase 5, trong>regulatorytrong> subunit 1 (p35)

The protein encoded by this gene (p35) is a neuron-specific activator trong>oftrong> cyclin-dependent kinase 5 (CDK5); the activation trong>oftrong> CDK5 is required for proper development trong>oftrong> the central nervous system. The p35 form trong>oftrong> this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage trong>oftrong> p35 into p25 results in relocalization trong>oftrong> the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons trong>oftrong> patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms trong>oftrong> the microtubule-associated protein tau, which contributes to Alzheimer's disease. [provided by RefSeq, Jul 2008]

NSRP1P1 Gene

nuclear speckle splicing trong>regulatorytrong> protein 1 pseudogene 1

LOC100418588 Gene

myosin, light chain 12B, trong>regulatorytrong> pseudogene

LOC100418587 Gene

myosin, light chain 12B, trong>regulatorytrong> pseudogene

MYL7 Gene

myosin, light chain 7, trong>regulatorytrong>

MYL5 Gene

myosin, light chain 5, trong>regulatorytrong>

This gene encodes one trong>oftrong> the myosin light chains, a component trong>oftrong> the hexameric ATPase cellular motor protein myosin. Myosin is composed trong>oftrong> two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable trong>regulatorytrong> light chains. This gene product, one trong>oftrong> the trong>regulatorytrong> light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]

MYL2 Gene

myosin, light chain 2, trong>regulatorytrong>, cardiac, slow

Thus gene encodes the trong>regulatorytrong> light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation trong>oftrong> trong>regulatorytrong> light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

MYL9 Gene

myosin, light chain 9, trong>regulatorytrong>

Myosin, a structural component trong>oftrong> muscle, consists trong>oftrong> two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity trong>oftrong> myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

IRF5P1 Gene

interferon trong>regulatorytrong> factor 5 pseudogene 1

PPP1R1AP1 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 1A pseudogene 1

PPP1R7 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 7

This gene encodes a protein subunit that regulates the activity trong>oftrong> the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion trong>oftrong> the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

PPP1R2 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2

RFX6 Gene

trong>regulatorytrong> factor X, 6

The nuclear protein encoded by this gene is a member trong>oftrong> the trong>regulatorytrong> factor X (RFX) family trong>oftrong> transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation trong>oftrong> islet cells for the production trong>oftrong> insulin, but not for the differentiation trong>oftrong> pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression trong>oftrong> the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]

LOC100131360 Gene

serine/threonine-protein phosphatase 4 trong>regulatorytrong> subunit 2-like

KCNE2 Gene

potassium channel, voltage gated subfamily E trong>regulatorytrong> beta subunit 2

Voltage-gated potassium (Kv) channels represent the most complex class trong>oftrong> voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member trong>oftrong> the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]

KCNE3 Gene

potassium channel, voltage gated subfamily E trong>regulatorytrong> beta subunit 3

Voltage-gated potassium (Kv) channels represent the most complex class trong>oftrong> voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member trong>oftrong> the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability trong>oftrong> the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]

KCNE1 Gene

potassium channel, voltage gated subfamily E trong>regulatorytrong> beta subunit 1

The product trong>oftrong> this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree trong>oftrong> diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product trong>oftrong> the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms trong>oftrong> long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

KCNE4 Gene

potassium channel, voltage gated subfamily E trong>regulatorytrong> beta subunit 4

Voltage-gated potassium (Kv) channels represent the most complex class trong>oftrong> voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member trong>oftrong> the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability trong>oftrong> the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]

KCNE5 Gene

potassium channel, voltage gated subfamily E trong>regulatorytrong> beta subunit 5

Voltage-gated potassium (Kv) channels represent the most complex class trong>oftrong> voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a membrane protein which has sequence similarity to the KCNE1 gene product, a member trong>oftrong> the potassium channel, voltage-gated, isk-related subfamily. This intronless gene is deleted in AMME contiguous gene syndrome and may be involved in the cardiac and neurologic abnormalities found in the AMME contiguous gene syndrome. [provided by RefSeq, Jul 2008]

SREBF2 Gene

sterol trong>regulatorytrong> element binding transcription factor 2

This gene encodes a member trong>oftrong> the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription trong>oftrong> sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol trong>regulatorytrong> element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

SREBF1 Gene

sterol trong>regulatorytrong> element binding transcription factor 1

This gene encodes a transcription factor that binds to the sterol trong>regulatorytrong> element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage trong>oftrong> the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member trong>oftrong> the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2008]

MYRFL Gene

myelin trong>regulatorytrong> factor-like

PPP2R3B Gene

protein phosphatase 2, trong>regulatorytrong> subunit B'', beta

Protein phosphatase 2 (formerly named type 2A) is one trong>oftrong> the four major Ser/Thr phosphatases and is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed trong>oftrong> a structural subunit A, a catalytic subunit C, and a trong>regulatorytrong> subunit B. The trong>regulatorytrong> subunit is encoded by a diverse set trong>oftrong> genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different trong>regulatorytrong> subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product trong>oftrong> this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product trong>oftrong> this gene belongs to the beta subfamily trong>oftrong> trong>regulatorytrong> subunit B''. [provided by RefSeq, Apr 2010]

PPP2R3C Gene

protein phosphatase 2, trong>regulatorytrong> subunit B'', gamma

This gene encodes a trong>regulatorytrong> subunit trong>oftrong> the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation trong>oftrong> immune system B cells. This protein may regulate the expression trong>oftrong> the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

PPP2R3A Gene

protein phosphatase 2, trong>regulatorytrong> subunit B'', alpha

This gene encodes one trong>oftrong> the trong>regulatorytrong> subunits trong>oftrong> the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one trong>oftrong> the four major Ser/Thr phosphatases and is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed trong>oftrong> a structural subunit A, a catalytic subunit C, and a trong>regulatorytrong> subunit B. The trong>regulatorytrong> subunit is encoded by a diverse set trong>oftrong> genes that have been grouped into the B/PR55, B'/PR61, and B''/PR72 families. These different trong>regulatorytrong> subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product trong>oftrong> this gene belongs to the B'' family. The B'' family has been further divided into subfamilies. The product trong>oftrong> this gene belongs to the alpha subfamily trong>oftrong> trong>regulatorytrong> subunit B''. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms.[provided by RefSeq, Jun 2010]

LOC100422399 Gene

protein kinase, cAMP-dependent, trong>regulatorytrong>, type II, beta pseudogene

LOC105379572 Gene

KAT8 trong>regulatorytrong> NSL complex subunit 1-like

PPP1R8 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 8

This gene, through alternative splicing, encodes three different istrong>oftrong>orms. Two trong>oftrong> the protein istrong>oftrong>orms encoded by this gene are specific inhibitors trong>oftrong> type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein istrong>oftrong>orm lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E trong>oftrong> E. coli. This istrong>oftrong>orm requires magnesium for its function and cleaves specific sites in A+U-rich regions trong>oftrong> RNA. [provided by RefSeq, Jul 2008]

KCNMB1 Gene

potassium channel subfamily M trong>regulatorytrong> beta subunit 1

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control trong>oftrong> smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product trong>oftrong> this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]

KCNMB3 Gene

potassium channel subfamily M trong>regulatorytrong> beta subunit 3

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control trong>oftrong> smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time trong>oftrong> MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]

KCNMB2 Gene

potassium channel subfamily M trong>regulatorytrong> beta subunit 2

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control trong>oftrong> smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which decreases the activation time trong>oftrong> MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants trong>oftrong> this gene. Additional variants are discussed in the literature, but their full length nature has not been described. [provided by RefSeq, Jul 2013]

KCNMB4 Gene

potassium channel subfamily M trong>regulatorytrong> beta subunit 4

MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control trong>oftrong> smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which slows activation kinetics, leads to steeper calcium sensitivity, and shifts the voltage range trong>oftrong> current activation to more trong>negativetrong> potentials than does the beta 1 subunit. [provided by RefSeq, Jul 2008]

KHSRP Gene

KH-type splicing trong>regulatorytrong> protein

The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety trong>oftrong> cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]

LOC283922 Gene

pyruvate dehydrogenase phosphatase trong>regulatorytrong> subunit pseudogene

LOC105378594 Gene

nuclear speckle splicing trong>regulatorytrong> protein 1-like

LOC100418682 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene

LOC100418683 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene

LOC100418684 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene

LOC100288016 Gene

serine/threonine-protein phosphatase 4 trong>regulatorytrong> subunit 2-like

LOC100422587 Gene

platelet-activating factor acetylhydrolase 1b, trong>regulatorytrong> subunit 1 (45kDa) pseudogene

PPP1R1A Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 1A

PPP1R1C Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 1C

Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety trong>oftrong> cellular functions. PP1 consists trong>oftrong> a catalytic subunit (see PPP1CA; MIM 176875) and trong>regulatorytrong> subunits that determine the subcellular localization trong>oftrong> PP1 or regulate its function. PPP1R1C belongs to a group trong>oftrong> PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]

PPP1R1B Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 1B

This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Oct 2011]

PPP1R11 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 11

This gene encodes a specific inhibitor trong>oftrong> protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms trong>oftrong> PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]

PPP1R10 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 10

This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity trong>oftrong> protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

PPP1R18 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 18

Protein phosphatase-1 (PP1; see MIM 176875) interacts with trong>regulatorytrong> subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a trong>regulatorytrong> subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]

SIRPB2 Gene

signal-trong>regulatorytrong> protein beta 2

SIRPB1 Gene

signal-trong>regulatorytrong> protein beta 1

The protein encoded by this gene is a member trong>oftrong> the signal-trong>regulatorytrong>-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the trong>negativetrong> trong>regulationtrong> trong>oftrong> receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment trong>oftrong> tyrosine kinase SYK. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Feb 2009]

RPTOR Gene

trong>regulatorytrong> associated protein trong>oftrong> MTOR, complex 1

This gene encodes a component trong>oftrong> a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and trong>negativetrong>ly regulates the mTOR kinase. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Sep 2009]

MYRF Gene

myelin trong>regulatorytrong> factor

This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression trong>oftrong> genes that effect myelin production but may also directly promote myelin gene expression. Loss trong>oftrong> a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

PPP1R2P3 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 3

PPP1R9A Gene

protein phosphatase 1, trong>regulatorytrong> subunit 9A

This gene is imprinted, and located in a cluster trong>oftrong> imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a trong>regulatorytrong> subunit trong>oftrong> protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Oct 2009]

PPP1R9B Gene

protein phosphatase 1, trong>regulatorytrong> subunit 9B

This gene encodes a scaffold protein that functions as a trong>regulatorytrong> subunit trong>oftrong> protein phosphatase 1a. Expression trong>oftrong> this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]

PPP3R2 Gene

protein phosphatase 3, trong>regulatorytrong> subunit B, beta

PPP3R1 Gene

protein phosphatase 3, trong>regulatorytrong> subunit B, alpha

CKS1BP7 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 7

CKS1BP6 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 6

CKS1BP5 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 5

CKS1BP3 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 3

CKS1BP2 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 2

CKS1BP1 Gene

CDC28 protein kinase trong>regulatorytrong> subunit 1B pseudogene 1

PAFAH1B1P2 Gene

platelet-activating factor acetylhydrolase 1b, trong>regulatorytrong> subunit 1 pseudogene 2

SARAF Gene

store-operated calcium entry-associated trong>regulatorytrong> factor

SRMS Gene

src-related kinase lacking C-terminal trong>regulatorytrong> tyrosine and N-terminal myristylation sites

RFXAP Gene

trong>regulatorytrong> factor X-associated protein

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control trong>oftrong> the immune system. The protein encoded by this gene, along with trong>regulatorytrong> factor X-associated ankyrin-containing protein and trong>regulatorytrong> factor-5, forms a complex that binds to the X box motif trong>oftrong> certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility trong>oftrong> MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene. [provided by RefSeq, Jul 2008]

PPP6R2P1 Gene

protein phosphatase 6, trong>regulatorytrong> subunit 2 pseudogene 1

CDK5RAP2 Gene

CDK5 trong>regulatorytrong> subunit associated protein 2

This gene encodes a regulator trong>oftrong> CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

CDK5RAP3 Gene

CDK5 trong>regulatorytrong> subunit associated protein 3

This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional trong>regulationtrong> and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene trong>oftrong> this gene is located on the long arm trong>oftrong> chromosome 20. Alternative splicing results in multiple transcript variants that encode different istrong>oftrong>orms. [provided by RefSeq, May 2013]

CDK5RAP1 Gene

CDK5 trong>regulatorytrong> subunit associated protein 1

This gene encodes a regulator trong>oftrong> cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor trong>oftrong> cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different istrong>oftrong>orms. [provided by RefSeq, May 2013]

PPP1R15A Gene

protein phosphatase 1, trong>regulatorytrong> subunit 15A

This gene is a member trong>oftrong> a group trong>oftrong> genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction trong>oftrong> this gene by ionizing radiation occurs in certain cell lines regardless trong>oftrong> p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]

PPP1R15B Gene

protein phosphatase 1, trong>regulatorytrong> subunit 15B

PPP1R15B promotes dephosphorylation trong>oftrong> the transcription initiation factor EIF2-alpha (EIF2S1; MIM 603907) through recruitment trong>oftrong> protein phosphatase-1 (PP1) catalytic subunits (see MIM 176875) (Harding et al., 2009 [PubMed 19181853]).[supplied by OMIM, Feb 2010]

PPP1R2P1 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 1

PPP1R2P2 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 2

PPP1R2P5 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 5

PPP1R2P4 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 4

PPP1R2P6 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 6

PPP1R2P9 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 9

PPP1R2P8 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 8

PPP2R5D Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', delta

The product trong>oftrong> this gene belongs to the phosphatase 2A trong>regulatorytrong> subunit B family. Protein phosphatase 2A is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B56 subfamily. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been identified. [provided by RefSeq, Jul 2008]

PPP2R5E Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', epsilon istrong>oftrong>orm

The protein encoded by this gene belongs to the phosphatase 2A trong>regulatorytrong> subunit B family. Protein phosphatase 2A is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B56 subfamily. Multiple transcript variants encoding several different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Aug 2013]

PPP2R5A Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', alpha

The product trong>oftrong> this gene belongs to the phosphatase 2A trong>regulatorytrong> subunit B family. Protein phosphatase 2A is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B56 subfamily. Alternative transcript variants encoding distinct istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Dec 2010]

PPP2R5B Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', beta

The product trong>oftrong> this gene belongs to the phosphatase 2A trong>regulatorytrong> subunit B family. Protein phosphatase 2A is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B56 subfamily. [provided by RefSeq, Jul 2008]

PPP2R5C Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', gamma

The product trong>oftrong> this gene belongs to the phosphatase 2A trong>regulatorytrong> subunit B family. Protein phosphatase 2A is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B56 subfamily. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been identified. [provided by RefSeq, Jul 2008]

STAR Gene

steroidogenic acute trong>regulatorytrong> protein

The protein encoded by this gene plays a key role in the acute trong>regulationtrong> trong>oftrong> steroid hormone synthesis by enhancing the conversion trong>oftrong> cholesterol into pregnenolone. This protein permits the cleavage trong>oftrong> cholesterol into pregnenolone by mediating the transport trong>oftrong> cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause trong>oftrong> congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene trong>oftrong> this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]

IRF3 Gene

interferon trong>regulatorytrong> factor 3

This gene encodes a member trong>oftrong> the interferon trong>regulatorytrong> transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription trong>oftrong> interferons alpha and beta, as well as other interferon-induced genes. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Nov 2011]

IRF2 Gene

interferon trong>regulatorytrong> factor 2

IRF2 encodes interferon trong>regulatorytrong> factor 2, a member trong>oftrong> the interferon trong>regulatorytrong> transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation trong>oftrong> interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator trong>oftrong> histone H4. [provided by RefSeq, Jul 2008]

IRF1 Gene

interferon trong>regulatorytrong> factor 1

IRF1 encodes interferon trong>regulatorytrong> factor 1, a member trong>oftrong> the interferon trong>regulatorytrong> transcription factor (IRF) family. IRF1 serves as an activator trong>oftrong> interferons alpha and beta transcription, and in mouse it has been shown to be required for double-stranded RNA induction trong>oftrong> these genes. IRF1 also functions as a transcription activator trong>oftrong> genes induced by interferons alpha, beta, and gamma. Further, IRF1 has been shown to play roles in regulating apoptosis and tumor-suppressoion. [provided by RefSeq, Jul 2008]

IRF7 Gene

interferon trong>regulatorytrong> factor 7

IRF7 encodes interferon trong>regulatorytrong> factor 7, a member trong>oftrong> the interferon trong>regulatorytrong> transcription factor (IRF) family. IRF7 has been shown to play a role in the transcriptional activation trong>oftrong> virus-inducible cellular genes, including interferon beta chain genes. Inducible expression trong>oftrong> IRF7 is largely restricted to lymphoid tissue. Multiple IRF7 transcript variants have been identified, although the functional consequences trong>oftrong> these have not yet been established. [provided by RefSeq, Jul 2008]

IRF6 Gene

interferon trong>regulatorytrong> factor 6

This gene encodes a member trong>oftrong> the interferon trong>regulatorytrong> transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic ortrong>oftrong>acial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

IRF5 Gene

interferon trong>regulatorytrong> factor 5

This gene encodes a member trong>oftrong> the interferon trong>regulatorytrong> factor (IRF) family, a group trong>oftrong> transcription factors with diverse roles, including virus-mediated activation trong>oftrong> interferon, and modulation trong>oftrong> cell growth, differentiation, apoptosis, and immune system activity. Members trong>oftrong> the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss trong>oftrong> a 10-aa segment. [provided by RefSeq, Mar 2010]

IRF4 Gene

interferon trong>regulatorytrong> factor 4

The protein encoded by this gene belongs to the IRF (interferon trong>regulatorytrong> factor) family trong>oftrong> transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the trong>regulationtrong> trong>oftrong> interferons in response to infection by virus, and in the trong>regulationtrong> trong>oftrong> interferon-inducible genes. This family member is lymphocyte specific and trong>negativetrong>ly regulates Toll-like-receptor (TLR) signaling that is central to the activation trong>oftrong> innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause trong>oftrong> multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]

IRF9 Gene

interferon trong>regulatorytrong> factor 9

IRF8 Gene

interferon trong>regulatorytrong> factor 8

Interferon consensus sequence-binding protein (ICSBP) is a transcription factor trong>oftrong> the interferon (IFN) trong>regulatorytrong> factor (IRF) family. Proteins trong>oftrong> this family are composed trong>oftrong> a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the trong>regulatorytrong> domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression trong>oftrong> genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression trong>oftrong> IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]

PPP1R42 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 42

PPP4R1L Gene

protein phosphatase 4, trong>regulatorytrong> subunit 1-like (pseudogene)

CD46 Gene

CD46 molecule, complement trong>regulatorytrong> protein

The protein encoded by this gene is a type I membrane protein and is a trong>regulatorytrong> part trong>oftrong> the complement system. The encoded protein has ctrong>oftrong>actor activity for inactivation trong>oftrong> complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain trong>oftrong> measles virus, human herpesvirus-6, and type IV pili trong>oftrong> pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion trong>oftrong> the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been described. [provided by RefSeq, Jun 2010]

LOC101060304 Gene

protein phosphatase 1 trong>regulatorytrong> subunit 26-like

KCNAB1 Gene

potassium channel, voltage gated subfamily A trong>regulatorytrong> beta subunit 1

Potassium channels represent the most complex class trong>oftrong> voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member trong>oftrong> the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct istrong>oftrong>orms which are encoded by alternatively spliced transcript variants trong>oftrong> this gene. Some trong>oftrong> these istrong>oftrong>orms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity trong>oftrong> the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]

KCNAB3 Gene

potassium channel, voltage gated subfamily A trong>regulatorytrong> beta subunit 3

This gene encodes a member trong>oftrong> the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one trong>oftrong> the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity trong>oftrong> the alpha subunit. [provided by RefSeq, May 2012]

KCNAB2 Gene

potassium channel, voltage gated subfamily A trong>regulatorytrong> beta subunit 2

Voltage-gated potassium (Kv) channels represent the most complex class trong>oftrong> voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member trong>oftrong> the potassium channel, voltage-gated, shaker-related subfamily. This member is one trong>oftrong> the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties trong>oftrong> the KCNA4 gene product. Alternative splicing trong>oftrong> this gene results in multiple transcript variants encoding distinct istrong>oftrong>orms. [provided by RefSeq, Dec 2010]

PPP1R26P3 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 26 pseudogene 3

PPP2R1A Gene

protein phosphatase 2, trong>regulatorytrong> subunit A, alpha

This gene encodes a constant trong>regulatorytrong> subunit trong>oftrong> protein phosphatase 2. Protein phosphatase 2 is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The constant trong>regulatorytrong> subunit A serves as a scaffolding molecule to coordinate the assembly trong>oftrong> the catalytic subunit and a variable trong>regulatorytrong> B subunit. This gene encodes an alpha istrong>oftrong>orm trong>oftrong> the constant trong>regulatorytrong> subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

PPP1R11P2 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 11 pseudogene 2

PPP1R11P1 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 11 pseudogene 1

LOC154937 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', epsilon istrong>oftrong>orm pseudogene

LOC100418590 Gene

myosin, light chain 12B, trong>regulatorytrong> pseudogene

CDK5R2 Gene

cyclin-dependent kinase 5, trong>regulatorytrong> subunit 2 (p39)

The protein encoded by this gene is a neuron-specific activator trong>oftrong> CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family trong>oftrong> cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]

LOC101060852 Gene

protein phosphatase 1 trong>regulatorytrong> subunit 26-like

ESRP2 Gene

epithelial splicing trong>regulatorytrong> protein 2

ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]

CREBRF Gene

CREB3 trong>regulatorytrong> factor

PPP1R16A Gene

protein phosphatase 1, trong>regulatorytrong> subunit 16A

PPP1R16B Gene

protein phosphatase 1, trong>regulatorytrong> subunit 16B

The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis trong>oftrong> the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been identified in this gene.[provided by RefSeq, Feb 2010]

LOC102724991 Gene

serine/threonine-protein phosphatase 2A trong>regulatorytrong> subunit B'' subunit beta

RFXANK Gene

trong>regulatorytrong> factor X-associated ankyrin-containing protein

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control trong>oftrong> the immune system. The protein encoded by this gene, along with trong>regulatorytrong> factor X-associated protein and trong>regulatorytrong> factor-5, forms a complex that binds to the X box motif trong>oftrong> certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility trong>oftrong> MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different istrong>oftrong>orms have been described for this gene. [provided by RefSeq, Jul 2013]

LOC100128052 Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', gamma pseudogene

LOC102724526 Gene

protein phosphatase 1 trong>regulatorytrong> subunit 26-like

KHSRPP1 Gene

KH-type splicing trong>regulatorytrong> protein pseudogene 1

TRERNA1 Gene

translation trong>regulatorytrong> long non-coding RNA 1

LOC101059962 Gene

serine/threonine-protein phosphatase 1 trong>regulatorytrong> subunit 10-like

SIRPB3P Gene

signal-trong>regulatorytrong> protein beta 3, pseudogene

MYL10 Gene

myosin, light chain 10, trong>regulatorytrong>

PPP2R2D Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, delta

PPP2R2A Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, alpha

The product trong>oftrong> this gene belongs to the phosphatase 2 trong>regulatorytrong> subunit B family. Protein phosphatase 2 is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]

PPP2R2C Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, gamma

The product trong>oftrong> this gene belongs to the phosphatase 2 trong>regulatorytrong> subunit B family. Protein phosphatase 2 is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B55 subfamily. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been identified. [provided by RefSeq, Jul 2008]

PPP2R2B Gene

protein phosphatase 2, trong>regulatorytrong> subunit B, beta

The product trong>oftrong> this gene belongs to the phosphatase 2 trong>regulatorytrong> subunit B family. Protein phosphatase 2 is one trong>oftrong> the four major Ser/Thr phosphatases, and it is implicated in the trong>negativetrong> control trong>oftrong> cell growth and division. It consists trong>oftrong> a common heteromeric core enzyme, which is composed trong>oftrong> a catalytic subunit and a constant trong>regulatorytrong> subunit, that associates with a variety trong>oftrong> trong>regulatorytrong> subunits. The B trong>regulatorytrong> subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta istrong>oftrong>orm trong>oftrong> the trong>regulatorytrong> subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration trong>oftrong> the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination trong>oftrong> speech and body movements. Multiple alternatively spliced variants, which encode different istrong>oftrong>orms, have been identified for this gene. The 5' UTR trong>oftrong> some trong>oftrong> these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 66-78 copies in cases trong>oftrong> SCA12. [provided by RefSeq, Jul 2008]

PPP1R17 Gene

protein phosphatase 1, trong>regulatorytrong> subunit 17

The protein encoded by this gene is found primarily in cerebellar Purkinje cells, where it functions as a protein phosphatase inhibitor. The encoded protein is a substrate for cGMP-dependent protein kinase. An allele trong>oftrong> this gene was discovered that increases susceptibility to hypercholesterolemia. Two transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2010]

AP1AR Gene

adaptor-related protein complex 1 associated trong>regulatorytrong> protein

PPP1R2P10 Gene

protein phosphatase 1, trong>regulatorytrong> (inhibitor) subunit 2 pseudogene 10

EDRF1 Gene

erythroid differentiation trong>regulatorytrong> factor 1

This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding trong>oftrong> the erythroid transcription factor GATA-1 and may regulate the expression trong>oftrong> alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

PPP2R5CP Gene

protein phosphatase 2, trong>regulatorytrong> subunit B', gamma pseudogene

MTF1 Gene

metal-trong>regulatorytrong> transcription factor 1

This gene encodes a transcription factor that induces expression trong>oftrong> metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]

CNEP1R1 Gene

CTD nuclear envelope phosphatase 1 trong>regulatorytrong> subunit 1

This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component trong>oftrong> an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis trong>oftrong> triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

MZB1 Gene

marginal zone B and B1 cell-specific protein

SPDYE12P Gene

speedy/RINGO cell cycle regulator family member E12, pseudogene

LOC101060086 Gene

cell cycle exit and neuronal differentiation protein 1-like

CDC27P10 Gene

cell division cycle 27 pseudogene 10

CDC27P11 Gene

cell division cycle 27 pseudogene 11

LOC100420540 Gene

cell division cycle associated 8 pseudogene

BTG4 Gene

B-cell translocation gene 4

The protein encoded by this gene is a member trong>oftrong> 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 cell cycle. [provided by RefSeq, Jul 2008]

BTG1 Gene

B-cell translocation gene 1, anti-proliferative

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

TRAV23DV6 Gene

T cell receptor alpha variable 23/delta variable 6

LOC101929185 Gene

putative glycine-rich cell wall structural protein 1

MEMO1P4 Gene

mediator trong>oftrong> cell motility 1 pseudogene 4

MEMO1P2 Gene

mediator trong>oftrong> cell motility 1 pseudogene 2

MEMO1P3 Gene

mediator trong>oftrong> cell motility 1 pseudogene 3

LOC728613 Gene

programmed cell death 6 pseudogene

MCL1 Gene

myeloid cell leukemia 1

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

TRBJ2-4 Gene

T cell receptor beta joining 2-4

TRBJ2-5 Gene

T cell receptor beta joining 2-5

TRBJ2-6 Gene

T cell receptor beta joining 2-6

TRBJ2-7 Gene

T cell receptor beta joining 2-7

TRBJ2-1 Gene

T cell receptor beta joining 2-1

TRBJ2-2 Gene

T cell receptor beta joining 2-2

TRBJ2-3 Gene

T cell receptor beta joining 2-3

CEND1 Gene

cell cycle exit and neuronal differentiation 1

The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell 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 cell nuclear antigen

The protein encoded by this gene is found in the nucleus and is a ctrong>oftrong>actor trong>oftrong> DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity trong>oftrong> 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>oftrong> this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]

BOC Gene

BOC cell adhesion associated, oncogene regulated

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

TRBV20-1 Gene

T cell receptor beta variable 20-1

LOC100130203 Gene

cell adhesion associated, oncogene regulated pseudogene

CDC34 Gene

cell division cycle 34

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

CDC37 Gene

cell division cycle 37

The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein trong>oftrong> Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety trong>oftrong> 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-cell CLL/lymphoma 9

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

BCL5 Gene

B-cell CLL/lymphoma 5

BCL6 Gene

B-cell 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>oftrong> transcription, and has been shown to modulate the transcription trong>oftrong> START-dependent IL-4 responses trong>oftrong> B cells. This protein can interact with a variety trong>oftrong> POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis trong>oftrong> DLCL. Alternatively spliced transcript variants encoding different protein istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Sep 2008]

BCL3 Gene

B-cell 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>oftrong> B-cell 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>oftrong> this gene can be induced by NF-kappa B, which forms a part trong>oftrong> the autotrong>regulatorytrong> loop that controls the nuclear residence trong>oftrong> p50 NF-kappa B. [provided by RefSeq, Jul 2008]

BCL2 Gene

B-cell CLL/lymphoma 2

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

HIRA Gene

histone cell cycle regulator

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

TRAJ32 Gene

T cell receptor alpha joining 32

INSL3 Gene

insulin-like 3 (Leydig cell)

This gene encodes a member trong>oftrong> the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies trong>oftrong> the mouse counterpart suggest that this gene may be involved in the development trong>oftrong> urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation trong>oftrong> 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 cell immunoglobulin-like receptor 3DL1

KIR3DX1 Gene

killer cell immunoglobulin-like receptor, three domains, X1

MNDA Gene

myeloid cell nuclear differentiation antigen

The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei trong>oftrong> cells trong>oftrong> the granulocyte-monocyte lineage. A 200-amino acid region trong>oftrong> human MNDA is strikingly similar to a region in the proteins encoded by a family trong>oftrong> interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- 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>oftrong> FCER1A, APCS, CRP, and SPTA1. In its pattern trong>oftrong> expression and/or trong>regulationtrong>, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]

TRGJ2 Gene

T cell receptor gamma joining 2

TRGJ1 Gene

T cell receptor gamma joining 1

TRGJP Gene

T cell receptor gamma joining P

TRBV6-8 Gene

T cell receptor beta variable 6-8

TRBV6-9 Gene

T cell receptor beta variable 6-9

TRBV6-5 Gene

T cell receptor beta variable 6-5

TRBV6-6 Gene

T cell receptor beta variable 6-6

TRBV6-7 Gene

T cell receptor beta variable 6-7 (non-functional)

TRBV6-2 Gene

T cell receptor beta variable 6-2 (gene/pseudogene)

TRBV6-3 Gene

T cell receptor beta variable 6-3

PCNAP1 Gene

proliferating cell nuclear antigen pseudogene 1

PCNAP4 Gene

proliferating cell nuclear antigen pseudogene 4

TRBC1 Gene

T cell receptor beta constant 1

TRBC2 Gene

T cell receptor beta constant 2

TRBV21-1 Gene

T cell receptor beta variable 21-1 (pseudogene)

CDIP1 Gene

cell death-inducing p53 target 1

LOC100287157 Gene

cell division cycle associated 8 pseudogene

SCRIB Gene

scribbled planar cell 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 cell 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>oftrong> E6. Two alternatively spliced transcript variants that encode different protein istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Nov 2011]

TAGAP Gene

T-cell activation RhoGTPase activating protein

This gene encodes a member trong>oftrong> 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>oftrong>orms. [provided by RefSeq, Jul 2013]

NRCAM Gene

neuronal cell adhesion molecule

Cell adhesion molecules (CAMs) are members trong>oftrong> the immunoglobulin superfamily. This gene encodes a neuronal cell 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 cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants trong>oftrong> this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different istrong>oftrong>orms. [provided by RefSeq, Jul 2008]

MEMO1P1 Gene

mediator trong>oftrong> cell motility 1 pseudogene 1

DEFA6 Gene

defensin, alpha 6, Paneth cell-specific

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

DEFA5 Gene

defensin, alpha 5, Paneth cell-specific

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

TRBV23OR9-2 Gene

T cell receptor beta variable 23/OR9-2 (non-functional)

PDCD1LG2 Gene

programmed cell death 1 ligand 2

DRAIC Gene

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

TRBV30 Gene

T cell receptor beta variable 30 (gene/pseudogene)

TCTA Gene

T-cell leukemia translocation altered

DELYQ11 Gene

Sertoli cell-only syndrome, Y-linked

LOC100422623 Gene

carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) pseudogene

ZYG11B Gene

zyg-11 family member B, cell cycle regulator

ZYG11A Gene

zyg-11 family member A, cell cycle regulator

TRBV3-1 Gene

T cell receptor beta variable 3-1

TRBV7-9 Gene

T cell receptor beta variable 7-9

TRBV7-8 Gene

T cell receptor beta variable 7-8

TRBV7-1 Gene

T cell receptor beta variable 7-1 (non-functional)

TRBV7-3 Gene

T cell receptor beta variable 7-3

TRBV7-2 Gene

T cell receptor beta variable 7-2

TRBV7-5 Gene

T cell receptor beta variable 7-5 (pseudogene)

TRBV7-4 Gene

T cell receptor beta variable 7-4 (gene/pseudogene)

TRBV7-7 Gene

T cell receptor beta variable 7-7

TRBV7-6 Gene

T cell receptor beta variable 7-6

HK3 Gene

hexokinase 3 (white cell)

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

cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)

MTCP1 Gene

mature T-cell proliferation 1

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

CDCA2 Gene

cell division cycle associated 2

CDCA3 Gene

cell division cycle associated 3

CDCA7 Gene

cell 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>oftrong> this gene is found to enhance the transformation trong>oftrong> lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct istrong>oftrong>orms have been reported. [provided by RefSeq, Jul 2008]

CDCA4 Gene

cell division cycle associated 4

This gene encodes a protein that belongs to the E2F family trong>oftrong> transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the trong>regulationtrong> trong>oftrong> 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

cell division cycle associated 5

CDCA8 Gene

cell division cycle associated 8

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

MUC4 Gene

mucin 4, cell surface associated

The major constituents trong>oftrong> 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>oftrong> the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted istrong>oftrong>orms may exist. At least two dozen transcript variants trong>oftrong> this gene have been found, although for many trong>oftrong> 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>oftrong> 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

NKS1 Gene

natural killer cell susceptibility 1

CEMIP Gene

cell migration inducing protein, hyaluronan binding

EPCAM Gene

epithelial cell adhesion molecule

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

TRAJ29 Gene

T cell receptor alpha joining 29

TRAJ28 Gene

T cell receptor alpha joining 28

TRAJ27 Gene

T cell receptor alpha joining 27

TRAJ26 Gene

T cell receptor alpha joining 26

TRAJ25 Gene

T cell receptor alpha joining 25 (non-functional)

TRAJ24 Gene

T cell receptor alpha joining 24

TRAJ23 Gene

T cell receptor alpha joining 23

TRAJ22 Gene

T cell receptor alpha joining 22

TRAJ21 Gene

T cell receptor alpha joining 21

TRAJ20 Gene

T cell receptor alpha joining 20

TRAV5 Gene

T cell receptor alpha variable 5

RGCC Gene

regulator trong>oftrong> cell cycle

This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels trong>oftrong> complement system proteins that result in activation trong>oftrong> the cell 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>oftrong> cell division cycle 2 protein. In different assays and cell types, overexpression trong>oftrong> this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]

TCL6 Gene

T-cell leukemia/lymphoma 6 (non-protein coding)

TCL4 Gene

T-cell leukemia/lymphoma 4

HMCES Gene

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

HCFC1R1 Gene

host cell factor C1 regulator 1 (XPO1 dependent)

TRAV29DV5 Gene

T cell receptor alpha variable 29/delta variable 5 (gene/pseudogene)

MUC17 Gene

mucin 17, cell surface associated

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

MUC16 Gene

mucin 16, cell surface associated

MUC15 Gene

mucin 15, cell surface associated

MUC13 Gene

mucin 13, cell surface associated

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

MUC12 Gene

mucin 12, cell surface associated

HCC Gene

thyroid carcinoma, Hurthle cell

NEDD8 Gene

neural precursor cell expressed, developmentally down-regulated 8

NEDD9 Gene

neural precursor cell expressed, developmentally down-regulated 9

The protein encoded by this gene is a member trong>oftrong> the CRK-associated substrates family. Members trong>oftrong> 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 cell attachment, migration and invasion as well as apoptosis and the cell 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 cell expressed, developmentally down-regulated 1

HCLS1 Gene

hematopoietic cell-specific Lyn substrate 1

ERICD Gene

E2F1-regulated inhibitor trong>oftrong> cell death (non-protein coding)

TRGV5P Gene

T cell receptor gamma variable 5P (pseudogene)

PARD3 Gene

par-3 family cell polarity regulator

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

LOC100132330 Gene

mal, T-cell differentiation protein-like pseudogene

CD244 Gene

CD244 molecule, natural killer cell receptor 2B4

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

CPA3 Gene

carboxypeptidase A3 (mast cell)

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

LIMS3L Gene

LIM and senescent cell antigen-like domains 3-like

TRGV10 Gene

T cell receptor gamma variable 10 (non-functional)

TCIRG1 Gene

T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3

Through alternate splicing, this gene encodes two proteins with similarity to subunits trong>oftrong> the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification trong>oftrong> eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised trong>oftrong> 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-cell lymphomas 1

The protein encoded by this gene belongs to the GSK-3-binding protein family. The protein inhibits GSK-3-mediated phosphorylation trong>oftrong> 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-cell 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>oftrong> the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]

LOC105379645 Gene

killer cell immunoglobulin-like receptor 2DL2

SDF2L1 Gene

stromal cell-derived factor 2-like 1

LOC101060051 Gene

vegetative cell wall protein gp1-like

BCC5 Gene

Basal cell carcinoma, susceptibility to, 5

TRBV21OR9-2 Gene

T cell receptor beta variable 21/OR9-2 (pseudogene)

LOC105378167 Gene

vegetative cell wall protein gp1-like

MCAM Gene

melanoma cell adhesion molecule

KLRG1 Gene

killer cell lectin-like receptor subfamily G, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis trong>oftrong> certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group trong>oftrong> transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression trong>oftrong> 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 cell amplified sequence 1

CCAR1 Gene

cell division cycle and apoptosis regulator 1

CCAR2 Gene

cell cycle and apoptosis regulator 2

LOC100132609 Gene

programmed cell death 2 pseudogene

METRN Gene

meteorin, glial cell differentiation regulator

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

PCP4 Gene

Purkinje cell protein 4

PCP2 Gene

Purkinje cell protein 2

CTAGE1 Gene

cutaneous T-cell lymphoma-associated antigen 1

GMCL1P1 Gene

germ cell-less, spermatogenesis associated 1 pseudogene 1

This locus shares a high degree trong>oftrong> identity with the multi-exon germ cell-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 cell-less related protein. [provided by RefSeq, Jul 2008]

GMCL1P2 Gene

germ cell-less, spermatogenesis associated 1 pseudogene 2

TRAV14DV4 Gene

T cell receptor alpha variable 14/delta variable 4

KLRG2 Gene

killer cell lectin-like receptor subfamily G, member 2

SCLC1 Gene

small cell cancer trong>oftrong> the lung

KLRB1 Gene

killer cell lectin-like receptor subfamily B, member 1

Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes trong>oftrong> the C-type lectin superfamily, including the rodent NKRP1 family trong>oftrong> glycoproteins, are expressed by NK cells and may be involved in the trong>regulationtrong> trong>oftrong> NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic trong>oftrong> 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-cell neoplasia

MGCT Gene

male germ cell tumor

TRBD1 Gene

T cell receptor beta diversity 1

LOC105379650 Gene

killer cell immunoglobulin-like receptor 2DS1

LOC101927245 Gene

vegetative cell wall protein gp1-like

CIDECP Gene

cell death-inducing DFFA-like effector c pseudogene

CDC20B Gene

cell division cycle 20B

BCC6 Gene

Basal cell carcinoma, susceptibility to, 6

VANGL1 Gene

VANGL planar cell polarity protein 1

This gene encodes a member trong>oftrong> 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 cell receptor alpha joining 16

TRAJ17 Gene

T cell receptor alpha joining 17

TRAJ14 Gene

T cell receptor alpha joining 14

TRAJ15 Gene

T cell receptor alpha joining 15

TRAJ12 Gene

T cell receptor alpha joining 12

TRAJ13 Gene

T cell receptor alpha joining 13

TRAJ10 Gene

T cell receptor alpha joining 10

TRAJ11 Gene

T cell receptor alpha joining 11

TRAJ18 Gene

T cell receptor alpha joining 18

TRAJ19 Gene

T cell receptor alpha joining 19 (non-functional)

BCL6B Gene

B-cell CLL/lymphoma 6, member B

SWAP70 Gene

SWAP switching B-cell complex 70kDa subunit

CDC5L Gene

cell division cycle 5-like

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

KIR2DS5 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunoglobulin-like receptor, three domains, pseudogene

KIR2DS2 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> 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]

LOC105378775 Gene

cell death regulator Aven-like

SPDYE10P Gene

speedy/RINGO cell cycle regulator family member E10, pseudogene

TRBJ2-2P Gene

T cell receptor beta joining 2-2P (non-functional)

FDCSP Gene

follicular dendritic cell secreted protein

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

TRBV11-3 Gene

T cell receptor beta variable 11-3

TRBV11-1 Gene

T cell receptor beta variable 11-1

EBF4 Gene

early B-cell factor 4

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

EBF3 Gene

early B-cell factor 3

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

EBF2 Gene

early B-cell factor 2

The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family trong>oftrong> 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>oftrong> developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation trong>oftrong> osteoblasts. [provided by RefSeq, Oct 2011]

EBF1 Gene

early B-cell factor 1

CGRRF1 Gene

cell growth regulator with ring finger domain 1

GLYCAM1 Gene

glycosylation dependent cell adhesion molecule 1 (pseudogene)

PP13 Gene

vegetative cell wall protein gp1

TRAV20 Gene

T cell receptor alpha variable 20

CDCA7L Gene

cell division cycle associated 7-like

TIGIT Gene

T cell immunoreceptor with Ig and ITIM domains

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

MCIDAS Gene

multiciliate differentiation and DNA synthesis associated cell cycle protein

NCR3LG1 Gene

natural killer cell cytotoxicity receptor 3 ligand 1

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

KIR3DL1 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. This gene is one trong>oftrong> the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. This gene is one trong>oftrong> the "framework" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

MEMO1 Gene

mediator trong>oftrong> cell motility 1

BLID Gene

BH3-like motif containing, cell death inducer

This gene encodes a BH3-like motif containing protein involved in cell death. 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]

ESAM Gene

endothelial cell adhesion molecule

TRBV24-1 Gene

T cell receptor beta variable 24-1

BANK1 Gene

B-cell scaffold protein with ankyrin repeats 1

The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation trong>oftrong> 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 cell polarity protein

This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell 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 cell adhesion molecule 19

CEACAM18 Gene

carcinoembryonic antigen-related cell adhesion molecule 18

CEACAM16 Gene

carcinoembryonic antigen-related cell 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 cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause trong>oftrong> non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]

CIDEC Gene

cell death-inducing DFFA-like effector c

This gene encodes a member trong>oftrong> the cell death-inducing DNA fragmentation factor-like effector family. Members trong>oftrong> 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>oftrong> this gene is located on the short arm trong>oftrong> chromosome 3. Alternatively spliced transcript variants that encode different istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Dec 2010]

CIDEA Gene

cell death-inducing DFFA-like effector a

This gene encodes the homolog trong>oftrong> the mouse protein Cidea that has been shown to activate apoptosis. This activation trong>oftrong> 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]

CDC42P5 Gene

cell division cycle 42 pseudogene 5

LOC105372844 Gene

vegetative cell wall protein gp1-like

PBXIP1 Gene

pre-B-cell leukemia homeobox interacting protein 1

PDCD6 Gene

programmed cell death 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 cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. 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>oftrong>orms have been observed for this gene, and a pseudogene trong>oftrong> this gene is also located on the short arm trong>oftrong> chromosome 5. [provided by RefSeq, May 2012]

PDCD7 Gene

programmed cell death 7

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

PDCD4 Gene

programmed cell death 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 cell death 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>oftrong> K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell 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 cell death 2

This gene encodes a nuclear protein expressed in a variety trong>oftrong> tissues. Expression trong>oftrong> this gene has been shown to be repressed by B-cell 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 cell death 1

This gene encodes a cell surface membrane protein trong>oftrong> the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression trong>oftrong> this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers trong>oftrong> 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 cell function and contribute to the prevention trong>oftrong> autoimmune diseases. [provided by RefSeq, Jul 2008]

PDCD10 Gene

programmed cell death 10

This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular 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>oftrong> 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 cell death 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>oftrong> 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]

LOC345471 Gene

cell division cycle 37 homolog (S. cerevisiae) pseudogene

MCF2 Gene

MCF.2 cell 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>oftrong> the Rho family trong>oftrong> small GTPases. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. These istrong>oftrong>orms exhibit different expression patterns and varying levels trong>oftrong> GEF activity.[provided by RefSeq, Jan 2010]

CDON Gene

cell adhesion associated, oncogene regulated

This gene encodes a cell surface receptor that is a member trong>oftrong> 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>oftrong> a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]

PPDPF Gene

pancreatic progenitor cell differentiation and proliferation factor

TRBV10-2 Gene

T cell receptor beta variable 10-2

TRBV10-3 Gene

T cell receptor beta variable 10-3

TRBV10-1 Gene

T cell receptor beta variable 10-1(gene/pseudogene)

LOC102725023 Gene

killer cell immunoglobulin-like receptor 2DS3 allele 0020101

CDC20P1 Gene

cell division cycle 20 pseudogene 1

PDCD5P1 Gene

programmed cell death 5 pseudogene 1

PDCD5P2 Gene

programmed cell death 5 pseudogene 2

LIMS2 Gene

LIM and senescent cell antigen-like domains 2

This gene encodes a member trong>oftrong> a small family trong>oftrong> 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 cell shape and migration. A pseudogene trong>oftrong> this gene is located on chromosome 4. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Nov 2011]

LIMS3 Gene

LIM and senescent cell antigen-like domains 3

LIMS1 Gene

LIM and senescent cell 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>oftrong> spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Jul 2010]

TRGJP2 Gene

T cell receptor gamma joining P2

TRGJP1 Gene

T cell receptor gamma joining P1

LOC102725210 Gene

vegetative cell wall protein gp1-like

BOD1 Gene

biorientation trong>oftrong> chromosomes in cell division 1

TRBV25-1 Gene

T cell receptor beta variable 25-1

VTCN1 Gene

V-set domain containing T cell 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>oftrong> antigen-presenting cells and interact with ligand bound to receptors on the surface trong>oftrong> T cells. Studies have shown that high levels trong>oftrong> the encoded protein has been correlated with tumor progression. A pseudogene trong>oftrong> this gene is located on chromosome 20. Multiple transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Dec 2011]

CERCAM Gene

cerebral endothelial cell adhesion molecule

VCAM1 Gene

vascular cell adhesion molecule 1

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

LAKLG Gene

lymphokine-activated killer cell ligand

TRBV17 Gene

T cell receptor beta variable 17 (non-functional)

TRBV16 Gene

T cell receptor beta variable 16 (gene/pseudogene)

TRBV15 Gene

T cell receptor beta variable 15

TRBV14 Gene

T cell receptor beta variable 14

TRBV13 Gene

T cell receptor beta variable 13

TRBV19 Gene

T cell receptor beta variable 19

TRBV18 Gene

T cell receptor beta variable 18

NOS3 Gene

nitric oxide synthase 3 (endothelial cell)

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>oftrong>orms have been found for this gene. [provided by RefSeq, May 2009]

TRDV1 Gene

T cell receptor delta variable 1

TRDV3 Gene

T cell receptor delta variable 3

TRDV2 Gene

T cell receptor delta variable 2

URGCP Gene

upregulator trong>oftrong> cell proliferation

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

SMAGP Gene

small cell adhesion glycoprotein

SPDYE15P Gene

speedy/RINGO cell cycle regulator family member E15, pseudogene

PTCRA Gene

pre T-cell 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-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different istrong>oftrong>orms have been found for this gene.[provided by RefSeq, Jul 2011]

NCAM1 Gene

neural cell adhesion molecule 1

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

NCAM2 Gene

neural cell 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>oftrong> the primary olfactory axons. [provided by RefSeq, Jul 2008]

TRBVAOR9-2 Gene

T cell receptor beta variable A/OR9-2 (pseudogene)

TRAV36DV7 Gene

T cell receptor alpha variable 36/delta variable 7

KIR2DS4 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. [provided by RefSeq, Jul 2008]

CDC27P7 Gene

cell division cycle 27 pseudogene 7

LOC101930589 Gene

cell division cycle protein 27 homolog pseudogene

CDC25C Gene

cell division cycle 25C

This gene is highly conserved during evolution and it plays a key role in the trong>regulationtrong> trong>oftrong> cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation trong>oftrong> 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>oftrong> this gene have been described, however, the full-length nature trong>oftrong> many trong>oftrong> them is not known. [provided by RefSeq, Jul 2008]

CDC25B Gene

cell division cycle 25B

CDC25B is a member trong>oftrong> the CDC25 family trong>oftrong> 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>oftrong> the cell 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

cell division cycle 25A

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

PBG1 Gene

pancreatic beta cell glycoprotein 1

TRAJ49 Gene

T cell receptor alpha joining 49

TRAJ48 Gene

T cell receptor alpha joining 48

TRAJ41 Gene

T cell receptor alpha joining 41

TRAJ40 Gene

T cell receptor alpha joining 40

TRAJ43 Gene

T cell receptor alpha joining 43

TRAJ42 Gene

T cell receptor alpha joining 42

TRAJ45 Gene

T cell receptor alpha joining 45

TRAJ44 Gene

T cell receptor alpha joining 44

TRAJ47 Gene

T cell receptor alpha joining 47

TRAJ46 Gene

T cell receptor alpha joining 46

CDC27P2 Gene

cell division cycle 27 pseudogene 2

CDC27P3 Gene

cell division cycle 27 pseudogene 3

CDC27P1 Gene

cell division cycle 27 pseudogene 1

CDC27P6 Gene

cell division cycle 27 pseudogene 6

CDC27P4 Gene

cell division cycle 27 pseudogene 4

CDC27P5 Gene

cell division cycle 27 pseudogene 5

CDC27P8 Gene

cell division cycle 27 pseudogene 8

CDC27P9 Gene

cell division cycle 27 pseudogene 9

SPDYE2B Gene

speedy/RINGO cell cycle regulator family member E2B

HEPACAM Gene

hepatic and glial cell adhesion molecule

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

TRGC1 Gene

T cell receptor gamma constant 1

TRGC2 Gene

T cell receptor gamma constant 2

CDC27 Gene

cell division cycle 27

The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product trong>oftrong> Schizosaccharomyces pombe nuc 2. This protein is a component trong>oftrong> the anaphase-promoting complex (APC), which is composed trong>oftrong> eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation trong>oftrong> cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis trong>oftrong> B-type cyclins. The protein encoded by this gene and three other members trong>oftrong> 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>oftrong> mitosis. Alternative splicing trong>oftrong> 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

cell division cycle 26

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

CDC20 Gene

cell division cycle 20

CDC20 appears to act as a trong>regulatorytrong> protein interacting with several other proteins at multiple points in the cell 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 cell cycle regulator family member E8, pseudogene

BCAP31 Gene

B-cell receptor-associated protein 31

This gene encodes a member trong>oftrong> the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein trong>oftrong> the endoplasmic reticulum that is involved in the anterograde transport trong>oftrong> 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>oftrong> 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 cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase

This gene encodes a member trong>oftrong> the Nedd4 family trong>oftrong> 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>oftrong> multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression trong>oftrong> the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple istrong>oftrong>orms have been observed for this gene. [provided by RefSeq, Mar 2012]

THY1 Gene

Thy-1 cell surface antigen

DAD1P1 Gene

defender against cell death 1 pseudogene 1

PARD3B Gene

par-3 family cell polarity regulator beta

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

CLNK Gene

cytokine-dependent hematopoietic cell linker

MIST is a member trong>oftrong> the SLP76 family trong>oftrong> adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the trong>regulationtrong> trong>oftrong> immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell 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 cell oxyphilia

CDC14C Gene

cell division cycle 14C

CDC14B Gene

cell division cycle 14B

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

CDC14A Gene

cell division cycle 14A

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

CEACAM20 Gene

carcinoembryonic antigen-related cell adhesion molecule 20

CEACAM21 Gene

carcinoembryonic antigen-related cell adhesion molecule 21

LOC100420530 Gene

mucin 4, cell surface associated pseudogene

LOC100420536 Gene

islet cell autoantigen 1, 69kDa pseudogene

LOC266683 Gene

dendritic cell protein pseudogene

TRAV38-2DV8 Gene

T cell receptor alpha variable 38-2/delta variable 8

ICA1L Gene

islet cell autoantigen 1,69kDa-like

LOC101928242 Gene

cell cycle control protein 50B-like

SPDYE7P Gene

speedy/RINGO cell cycle regulator family member E7, pseudogene

TRBV6-4 Gene

T cell receptor beta variable 6-4

TRBV6-1 Gene

T cell receptor beta variable 6-1

CDC23 Gene

cell division cycle 23

The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component trong>oftrong> anaphase-promoting complex (APC), which is composed trong>oftrong> eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation trong>oftrong> cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis trong>oftrong> B-type cyclins. This protein and 3 other members trong>oftrong> 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 cell 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>oftrong> this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell 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>oftrong> the cell cycle.[provided by RefSeq, Aug 2010]

LOC391239 Gene

V-set domain containing T cell activation inhibitor 1 pseudogene

RQCD1 Gene

RCD1 required for cell differentiation1 homolog (S. pombe)

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

LOC100128775 Gene

neural precursor cell expressed, developmentally down-regulated 8 pseudogene

BOD1L2 Gene

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

BOD1L1 Gene

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

KLRAP1 Gene

killer cell lectin-like receptor subfamily A pseudogene 1

PCNAP2 Gene

proliferating cell nuclear antigen pseudogene 2

TCF7 Gene

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

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

LOC101409255 Gene

cell division cycle 42 pseudogene

LOC101409256 Gene

cell division cycle 42 pseudogene

PRG2 Gene

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

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

MADCAM1 Gene

mucosal vascular addressin cell adhesion molecule 1

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

LOC100128686 Gene

programmed cell death 10 pseudogene

ICK Gene

intestinal cell (MAK-like) kinase

Eukaryotic protein kinases are enzymes that belong to a very extensive family trong>oftrong> 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 cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same istrong>oftrong>orm, have been identified. [provided by RefSeq, Jul 2008]

ZYG11AP1 Gene

zyg-11 family member A, cell cycle regulator pseudogene 1

NET1 Gene

neuroepithelial cell transforming 1

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

TRBV28 Gene

T cell receptor beta variable 28

TRBV26 Gene

T cell receptor beta variable 26 (pseudogene)

MCTS2P Gene

malignant T cell amplified sequence 2, pseudogene

DSCAM Gene

Down syndrome cell adhesion molecule

This gene is a member trong>oftrong> the immunoglobulin superfamily trong>oftrong> cell 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>oftrong>orms have been observed for this gene. [provided by RefSeq, Oct 2012]

BCAP31P1 Gene

B-cell receptor-associated protein 31 pseudogene 1

LOC100418583 Gene

mucin 4, cell surface associated pseudogene

LOC100418585 Gene

mucin 4, cell surface associated pseudogene

LOC100418584 Gene

mucin 4, cell surface associated pseudogene

SCAI Gene

suppressor trong>oftrong> cancer cell invasion

This gene encodes a regulator trong>oftrong> cell 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 cell adhesion molecule 1

SDK2 Gene

sidekick cell adhesion molecule 2

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

TRAV31 Gene

T cell receptor alpha variable 31 (pseudogene)

PBX4 Gene

pre-B-cell leukemia homeobox 4

This gene encodes a member trong>oftrong> the pre-B cell leukemia transcription factor family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox ctrong>oftrong>actors and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions trong>oftrong> 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-cell leukemia homeobox 2

This gene encodes a ubiquitously expressed member trong>oftrong> 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-cell 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-cell leukemia homeobox 3

PBX1 Gene

pre-B-cell leukemia homeobox 1

This gene encodes a nuclear protein that belongs to the PBX homeobox family trong>oftrong> transcriptional factors. Studies in mice suggest that this gene may be involved in the trong>regulationtrong> trong>oftrong> 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-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain trong>oftrong> E2A is replaced by the DNA binding domain trong>oftrong> this protein, transforms cells by constitutively activating transcription trong>oftrong> genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Mar 2011]

TRAJ30 Gene

T cell receptor alpha joining 30

TRAJ31 Gene

T cell receptor alpha joining 31

TRAJ33 Gene

T cell receptor alpha joining 33

TRAJ34 Gene

T cell receptor alpha joining 34

TRAJ35 Gene

T cell receptor alpha joining 35 (non-functional)

TRAJ36 Gene

T cell receptor alpha joining 36

TRAJ37 Gene

T cell receptor alpha joining 37

TRAJ38 Gene

T cell receptor alpha joining 38

TRAJ39 Gene

T cell receptor alpha joining 39

KIR3DS1 Gene

killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets trong>oftrong> T cells. 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>oftrong> 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>oftrong> extracellular 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>oftrong> HLA class I molecules; thus, KIR proteins are thought to play an important role in trong>regulationtrong> trong>oftrong> the immune response. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene. [provided by RefSeq, Aug 2013]

TAX1BP1 Gene

Tax1 (human T-cell 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>oftrong> 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>oftrong> inflammatory signaling pathways. Alternatively spliced transcript variants encoding different istrong>oftrong>orms have been found for this gene.[provided by RefSeq, May 2011]

TAX1BP3 Gene

Tax1 (human T-cell leukemia virus type I) binding protein 3

CDC73 Gene

cell 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>oftrong> 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>oftrong> 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]

TCAIM Gene

T cell activation inhibitor, mitochondrial

TRBV20OR9-2 Gene

T cell receptor beta variable 20/OR9-2 (non-functional)

AAMP Gene

angio-associated, migratory cell protein

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

CDC26P1 Gene

cell division cycle 26 pseudogene 1

TRAV2 Gene

T cell receptor alpha variable 2

TRAV3 Gene

T cell receptor alpha variable 3 (gene/pseudogene)

TRAV4 Gene

T cell receptor alpha variable 4

TRAV6 Gene

T cell receptor alpha variable 6

TRAV7 Gene

T cell receptor alpha variable 7

PARD6G Gene

par-6 family cell polarity regulator gamma

PARD6B Gene

par-6 family cell polarity regulator beta

This gene is a member trong>oftrong> 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 cell division and cell polarization processes as a member trong>oftrong> a multi-protein complex. [provided by RefSeq, Jul 2008]

PARD6A Gene

par-6 family cell polarity regulator alpha

This gene is a member trong>oftrong> 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 cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member trong>oftrong> 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>oftrong>orms, have been characterized. [provided by RefSeq, Jul 2008]

NCCRP1 Gene

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

MUC20 Gene

mucin 20, cell surface associated

This gene encodes a member trong>oftrong> 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>oftrong> this family member associates with the multifunctional docking site trong>oftrong> the MET proto-oncogene and suppresses activation trong>oftrong> 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>oftrong>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, cell surface associated

LOC644070 Gene

putative germ cell-specific gene 1-like protein 2

ICOS Gene

inducible T-cell co-stimulator

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

LOC132386 Gene

epithelial cell adhesion molecule pseudogene

LOC100129601 Gene

cell division cycle associated 7 pseudogene

SPDYE11 Gene

speedy/RINGO cell cycle regulator family member E11

TTIM1 Gene

T-cell tumor invasion and metastasis 1

NKTR Gene

natural killer cell 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>oftrong> natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation trong>oftrong> the cells. [provided by RefSeq, Jul 2008]

LOC100128721 Gene

stromal cell-derived factor 2 pseudogene

TRAV22 Gene

T cell receptor alpha variable 22

TRAV21 Gene

T cell receptor alpha variable 21

TRAV27 Gene

T cell receptor alpha variable 27

TRAV25 Gene

T cell receptor alpha variable 25

TRAV24 Gene

T cell receptor alpha variable 24

TRAV28 Gene

T cell receptor alpha variable 28 (pseudogene)

TRBV25OR9-2 Gene

T cell receptor beta variable 25/OR9-2 (pseudogene)

CHL1 Gene

cell adhesion molecule L1-like

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

BCC4 Gene

Basal cell carcinoma