Name

CD4 Gene

CD4 molecule

This gene encodes a membrane glycoprotein of T lymphocytes that interacts with majtrong>ortrong> histocompatibility complex class II antigenes and is also a recepttrong>ortrong> ftrong>ortrong> the human immunodeficiency virus. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, and granulocytes. It is also expressed in specific regions of the brain. The protein functions to initiate trong>ortrong> augment the early phase of T-cell activation, and may function as an imptrong>ortrong>tant mediattrong>ortrong> of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been identified in this gene. [provided by RefSeq, Aug 2010]

BISPR Gene

BST2 interferon stimulated positive regulattrong>ortrong> (non-protein coding)

TESPA1 Gene

thymocyte expressed, positive selection associated 1

GAPLINC Gene

gastric adenocarcinoma associated, positive CD44 regulattrong>ortrong>, long intergenic non-coding RNA

MDCMP Gene

muscular dystrophy, congenital, merosin-positive

MLLT10P1 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 10 pseudogene 1

MLKL Gene

mixed lineage kinase domain-like

KIAA1804 Gene

mixed lineage kinase 4

OLIG2 Gene

oligodendrocyte lineage transcription facttrong>ortrong> 2

This gene encodes a basic helix-loop-helix transcription facttrong>ortrong> which is expressed in oligodendroglial tumtrong>ortrong>s of the brain. The protein is an essential regulattrong>ortrong> of ventral neuroectodermal progenittrong>ortrong> cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]

MLLT10 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 10

This gene encodes a transcription facttrong>ortrong> and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Sep 2010]

MLLT11 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 11

The gene variously symbolized ALL1, HRX, trong>ortrong> MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal ptrong>ortrong>tion of the MLL gene is critical ftrong>ortrong> leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in ntrong>ortrong>mal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]

MLLT4 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 4

This gene encodes a multi-domain protein involved in signaling and trong>ortrong>ganization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been described ftrong>ortrong> this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

MLLT6 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 6

MLLT1 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 1

MLLT3 Gene

myeloid/lymphoid trong>ortrong> mixed-lineage leukemia (trithtrong>ortrong>ax homolog, Drosophila); translocated to, 3

SRD5A2 Gene

steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibittrong>ortrong> finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

SRD5A1 Gene

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)

Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the mtrong>ortrong>e potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]

SRD5A1P1 Gene

steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene)

ST6GALNAC4P1 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1

ST6GALNAC2P1 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 pseudogene 1

ST6GALNAC6 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6

ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell trong>ortrong> cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]

ST6GALNAC5 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5

ST6GALNAC5 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell trong>ortrong> cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]

ST6GALNAC4 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is ntrong>ortrong>mally found in the Golgi apparatus but can be proteolytically processed to a soluble ftrong>ortrong>m. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

ST6GALNAC3 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3

ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]

ST6GALNAC2 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2

ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]

ST6GALNAC1 Gene

ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1

Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is ftrong>ortrong>med by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]

TRBJ2-4 Gene

T cell recepttrong>ortrong> beta joining 2-4

TRBJ2-5 Gene

T cell recepttrong>ortrong> beta joining 2-5

TRBJ2-6 Gene

T cell recepttrong>ortrong> beta joining 2-6

TRBJ2-7 Gene

T cell recepttrong>ortrong> beta joining 2-7

TRBJ2-1 Gene

T cell recepttrong>ortrong> beta joining 2-1

TRBJ2-2 Gene

T cell recepttrong>ortrong> beta joining 2-2

TRBJ2-3 Gene

T cell recepttrong>ortrong> beta joining 2-3

TRBV20-1 Gene

T cell recepttrong>ortrong> beta variable 20-1

TRBV6-8 Gene

T cell recepttrong>ortrong> beta variable 6-8

TRBV6-9 Gene

T cell recepttrong>ortrong> beta variable 6-9

TRBV6-5 Gene

T cell recepttrong>ortrong> beta variable 6-5

TRBV6-6 Gene

T cell recepttrong>ortrong> beta variable 6-6

TRBV6-7 Gene

T cell recepttrong>ortrong> beta variable 6-7 (non-functional)

TRBV6-2 Gene

T cell recepttrong>ortrong> beta variable 6-2 (gene/pseudogene)

TRBV6-3 Gene

T cell recepttrong>ortrong> beta variable 6-3

TRBC1 Gene

T cell recepttrong>ortrong> beta constant 1

TRBC2 Gene

T cell recepttrong>ortrong> beta constant 2

TRBV21-1 Gene

T cell recepttrong>ortrong> beta variable 21-1 (pseudogene)

TRBV23OR9-2 Gene

T cell recepttrong>ortrong> beta variable 23/OR9-2 (non-functional)

TRBV30 Gene

T cell recepttrong>ortrong> beta variable 30 (gene/pseudogene)

TRBV3-1 Gene

T cell recepttrong>ortrong> beta variable 3-1

TRBV7-9 Gene

T cell recepttrong>ortrong> beta variable 7-9

TRBV7-8 Gene

T cell recepttrong>ortrong> beta variable 7-8

TRBV7-1 Gene

T cell recepttrong>ortrong> beta variable 7-1 (non-functional)

TRBV7-3 Gene

T cell recepttrong>ortrong> beta variable 7-3

TRBV7-2 Gene

T cell recepttrong>ortrong> beta variable 7-2

TRBV7-5 Gene

T cell recepttrong>ortrong> beta variable 7-5 (pseudogene)

TRBV7-4 Gene

T cell recepttrong>ortrong> beta variable 7-4 (gene/pseudogene)

TRBV7-7 Gene

T cell recepttrong>ortrong> beta variable 7-7

TRBV7-6 Gene

T cell recepttrong>ortrong> beta variable 7-6

TRBV21OR9-2 Gene

T cell recepttrong>ortrong> beta variable 21/OR9-2 (pseudogene)

TRBD1 Gene

T cell recepttrong>ortrong> beta diversity 1

TRBJ2-2P Gene

T cell recepttrong>ortrong> beta joining 2-2P (non-functional)

TRBV11-3 Gene

T cell recepttrong>ortrong> beta variable 11-3

TRBV11-1 Gene

T cell recepttrong>ortrong> beta variable 11-1

TRBV24-1 Gene

T cell recepttrong>ortrong> beta variable 24-1

TRBV10-2 Gene

T cell recepttrong>ortrong> beta variable 10-2

TRBV10-3 Gene

T cell recepttrong>ortrong> beta variable 10-3

TRBV10-1 Gene

T cell recepttrong>ortrong> beta variable 10-1(gene/pseudogene)

TRBV25-1 Gene

T cell recepttrong>ortrong> beta variable 25-1

TRBV17 Gene

T cell recepttrong>ortrong> beta variable 17 (non-functional)

TRBV16 Gene

T cell recepttrong>ortrong> beta variable 16 (gene/pseudogene)

TRBV15 Gene

T cell recepttrong>ortrong> beta variable 15

TRBV14 Gene

T cell recepttrong>ortrong> beta variable 14

TRBV13 Gene

T cell recepttrong>ortrong> beta variable 13

TRBV19 Gene

T cell recepttrong>ortrong> beta variable 19

TRBV18 Gene

T cell recepttrong>ortrong> beta variable 18

TRBVAOR9-2 Gene

T cell recepttrong>ortrong> beta variable A/OR9-2 (pseudogene)

PBG1 Gene

pancreatic beta cell glycoprotein 1

PARD3B Gene

par-3 family cell polarity regulattrong>ortrong> beta

TRBV6-4 Gene

T cell recepttrong>ortrong> beta variable 6-4

TRBV6-1 Gene

T cell recepttrong>ortrong> beta variable 6-1

TRBV28 Gene

T cell recepttrong>ortrong> beta variable 28

TRBV26 Gene

T cell recepttrong>ortrong> beta variable 26 (pseudogene)

TRBV20OR9-2 Gene

T cell recepttrong>ortrong> beta variable 20/OR9-2 (non-functional)

PARD6B Gene

par-6 family cell polarity regulattrong>ortrong> beta

This gene is a member of 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 of a multi-protein complex. [provided by RefSeq, Jul 2008]

TRBV25OR9-2 Gene

T cell recepttrong>ortrong> beta variable 25/OR9-2 (pseudogene)

TRBV22OR9-2 Gene

T cell recepttrong>ortrong> beta variable 22/OR9-2 (pseudogene)

TRBV22-1 Gene

T cell recepttrong>ortrong> beta variable 22-1 (pseudogene)

TRBV11-2 Gene

T cell recepttrong>ortrong> beta variable 11-2

TRBV4-2 Gene

T cell recepttrong>ortrong> beta variable 4-2

TRBV4-3 Gene

T cell recepttrong>ortrong> beta variable 4-3

TRBV4-1 Gene

T cell recepttrong>ortrong> beta variable 4-1

TRBV5-7 Gene

T cell recepttrong>ortrong> beta variable 5-7 (non-functional)

TRBV5-6 Gene

T cell recepttrong>ortrong> beta variable 5-6

TRBV5-5 Gene

T cell recepttrong>ortrong> beta variable 5-5

TRBV5-4 Gene

T cell recepttrong>ortrong> beta variable 5-4

TRBV5-3 Gene

T cell recepttrong>ortrong> beta variable 5-3 (non-functional)

TRBV5-2 Gene

T cell recepttrong>ortrong> beta variable 5-2 (pseudogene)

TRBV5-1 Gene

T cell recepttrong>ortrong> beta variable 5-1

TRBV5-8 Gene

T cell recepttrong>ortrong> beta variable 5-8

TRBD2 Gene

T cell recepttrong>ortrong> beta diversity 2

TRBV8-2 Gene

T cell recepttrong>ortrong> beta variable 8-2 (pseudogene)

TRBV8-1 Gene

T cell recepttrong>ortrong> beta variable 8-1 (pseudogene)

TRBV26OR9-2 Gene

T cell recepttrong>ortrong> beta variable 26/OR9-2 (pseudogene)

TRB Gene

T cell recepttrong>ortrong> beta locus

T cell recepttrong>ortrong>s recognize ftrong>ortrong>eign antigens which have been processed as small peptides and bound to majtrong>ortrong> histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell recepttrong>ortrong> is a dimer consisting of one alpha and one beta chain trong>ortrong> one delta and one gamma chain. In a single cell, the T cell recepttrong>ortrong> loci are rearranged and expressed in the trong>ortrong>der delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline trong>ortrong>ganization of the T cell recepttrong>ortrong> beta locus. The beta locus includes V (variable), J (joining), diversity (D), and C (constant) segments. During T cell development, the beta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Several V segments and one J segment of the beta locus are known to be incapable of encoding a protein and are considered pseudogenes. The beta locus also includes eight trypsinogen genes, three of which encode functional proteins and five of which are pseudogenes. Chromosomal abntrong>ortrong>malities involving the T-cell recepttrong>ortrong> beta locus have been associated with T-cell lymphomas. [provided by RefSeq, Jul 2008]

LOC100422369 Gene

par-6 family cell polarity regulattrong>ortrong> beta pseudogene

TRBJ1-6 Gene

T cell recepttrong>ortrong> beta joining 1-6

TRBJ1-5 Gene

T cell recepttrong>ortrong> beta joining 1-5

TRBJ1-4 Gene

T cell recepttrong>ortrong> beta joining 1-4

TRBJ1-3 Gene

T cell recepttrong>ortrong> beta joining 1-3

TRBJ1-2 Gene

T cell recepttrong>ortrong> beta joining 1-2

TRBJ1-1 Gene

T cell recepttrong>ortrong> beta joining 1-1

TRBV23-1 Gene

T cell recepttrong>ortrong> beta variable 23-1 (non-functional)

TRBV27 Gene

T cell recepttrong>ortrong> beta variable 27

TRBV3-2 Gene

T cell recepttrong>ortrong> beta variable 3-2 (pseudogene)

TRBV12-4 Gene

T cell recepttrong>ortrong> beta variable 12-4

TRBV12-5 Gene

T cell recepttrong>ortrong> beta variable 12-5

TRBV12-1 Gene

T cell recepttrong>ortrong> beta variable 12-1 (pseudogene)

TRBV12-2 Gene

T cell recepttrong>ortrong> beta variable 12-2 (pseudogene)

TRBV12-3 Gene

T cell recepttrong>ortrong> beta variable 12-3

TRBV9 Gene

T cell recepttrong>ortrong> beta variable 9

TRBV2 Gene

T cell recepttrong>ortrong> beta variable 2

TRBV1 Gene

T cell recepttrong>ortrong> beta variable 1 (pseudogene)

TRBVC Gene

T cell recepttrong>ortrong> beta variable C

TRBVB Gene

T cell recepttrong>ortrong> beta variable B (pseudogene)

TRBVA Gene

T cell recepttrong>ortrong> beta variable A (pseudogene)

PBCA Gene

Pancreatic beta cell, agenesis of

TRBV29OR9-2 Gene

T cell recepttrong>ortrong> beta variable 29/OR9-2 (non-functional)

TRBV24OR9-2 Gene

T cell recepttrong>ortrong> beta variable 24/OR9-2 (pseudogene)

TRBV29-1 Gene

T cell recepttrong>ortrong> beta variable 29-1

TRAV23DV6 Gene

T cell recepttrong>ortrong> alpha variable 23/delta variable 6

TRAJ32 Gene

T cell recepttrong>ortrong> alpha joining 32

DEFA6 Gene

defensin, alpha 6, Paneth cell-specific

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

DEFA5 Gene

defensin, alpha 5, Paneth cell-specific

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

TRAJ29 Gene

T cell recepttrong>ortrong> alpha joining 29

TRAJ28 Gene

T cell recepttrong>ortrong> alpha joining 28

TRAJ27 Gene

T cell recepttrong>ortrong> alpha joining 27

TRAJ26 Gene

T cell recepttrong>ortrong> alpha joining 26

TRAJ25 Gene

T cell recepttrong>ortrong> alpha joining 25 (non-functional)

TRAJ24 Gene

T cell recepttrong>ortrong> alpha joining 24

TRAJ23 Gene

T cell recepttrong>ortrong> alpha joining 23

TRAJ22 Gene

T cell recepttrong>ortrong> alpha joining 22

TRAJ21 Gene

T cell recepttrong>ortrong> alpha joining 21

TRAJ20 Gene

T cell recepttrong>ortrong> alpha joining 20

TRAV5 Gene

T cell recepttrong>ortrong> alpha variable 5

TRAV29DV5 Gene

T cell recepttrong>ortrong> alpha variable 29/delta variable 5 (gene/pseudogene)

TRAV14DV4 Gene

T cell recepttrong>ortrong> alpha variable 14/delta variable 4

TRAJ16 Gene

T cell recepttrong>ortrong> alpha joining 16

TRAJ17 Gene

T cell recepttrong>ortrong> alpha joining 17

TRAJ14 Gene

T cell recepttrong>ortrong> alpha joining 14

TRAJ15 Gene

T cell recepttrong>ortrong> alpha joining 15

TRAJ12 Gene

T cell recepttrong>ortrong> alpha joining 12

TRAJ13 Gene

T cell recepttrong>ortrong> alpha joining 13

TRAJ10 Gene

T cell recepttrong>ortrong> alpha joining 10

TRAJ11 Gene

T cell recepttrong>ortrong> alpha joining 11

TRAJ18 Gene

T cell recepttrong>ortrong> alpha joining 18

TRAJ19 Gene

T cell recepttrong>ortrong> alpha joining 19 (non-functional)

TRAV20 Gene

T cell recepttrong>ortrong> alpha variable 20

PTCRA Gene

pre T-cell antigen recepttrong>ortrong> 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 ftrong>ortrong>ms the pre-T-cell recepttrong>ortrong> complex, which regulates early T-cell development. Four transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene.[provided by RefSeq, Jul 2011]

TRAV36DV7 Gene

T cell recepttrong>ortrong> alpha variable 36/delta variable 7

TRAJ49 Gene

T cell recepttrong>ortrong> alpha joining 49

TRAJ48 Gene

T cell recepttrong>ortrong> alpha joining 48

TRAJ41 Gene

T cell recepttrong>ortrong> alpha joining 41

TRAJ40 Gene

T cell recepttrong>ortrong> alpha joining 40

TRAJ43 Gene

T cell recepttrong>ortrong> alpha joining 43

TRAJ42 Gene

T cell recepttrong>ortrong> alpha joining 42

TRAJ45 Gene

T cell recepttrong>ortrong> alpha joining 45

TRAJ44 Gene

T cell recepttrong>ortrong> alpha joining 44

TRAJ47 Gene

T cell recepttrong>ortrong> alpha joining 47

TRAJ46 Gene

T cell recepttrong>ortrong> alpha joining 46

TRAV38-2DV8 Gene

T cell recepttrong>ortrong> alpha variable 38-2/delta variable 8

TRAV31 Gene

T cell recepttrong>ortrong> alpha variable 31 (pseudogene)

TRAJ30 Gene

T cell recepttrong>ortrong> alpha joining 30

TRAJ31 Gene

T cell recepttrong>ortrong> alpha joining 31

TRAJ33 Gene

T cell recepttrong>ortrong> alpha joining 33

TRAJ34 Gene

T cell recepttrong>ortrong> alpha joining 34

TRAJ35 Gene

T cell recepttrong>ortrong> alpha joining 35 (non-functional)

TRAJ36 Gene

T cell recepttrong>ortrong> alpha joining 36

TRAJ37 Gene

T cell recepttrong>ortrong> alpha joining 37

TRAJ38 Gene

T cell recepttrong>ortrong> alpha joining 38

TRAJ39 Gene

T cell recepttrong>ortrong> alpha joining 39

TRAV2 Gene

T cell recepttrong>ortrong> alpha variable 2

TRAV3 Gene

T cell recepttrong>ortrong> alpha variable 3 (gene/pseudogene)

TRAV4 Gene

T cell recepttrong>ortrong> alpha variable 4

TRAV6 Gene

T cell recepttrong>ortrong> alpha variable 6

TRAV7 Gene

T cell recepttrong>ortrong> alpha variable 7

PARD6A Gene

par-6 family cell polarity regulattrong>ortrong> alpha

This gene is a member of 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 of 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 isoftrong>ortrong>ms, have been characterized. [provided by RefSeq, Jul 2008]

TRAV22 Gene

T cell recepttrong>ortrong> alpha variable 22

TRAV21 Gene

T cell recepttrong>ortrong> alpha variable 21

TRAV27 Gene

T cell recepttrong>ortrong> alpha variable 27

TRAV25 Gene

T cell recepttrong>ortrong> alpha variable 25

TRAV24 Gene

T cell recepttrong>ortrong> alpha variable 24

TRAV28 Gene

T cell recepttrong>ortrong> alpha variable 28 (pseudogene)

TRAJ58 Gene

T cell recepttrong>ortrong> alpha joining 58 (non-functional)

TRAJ56 Gene

T cell recepttrong>ortrong> alpha joining 56

TRAJ57 Gene

T cell recepttrong>ortrong> alpha joining 57

TRAJ54 Gene

T cell recepttrong>ortrong> alpha joining 54

TRAV26-1 Gene

T cell recepttrong>ortrong> alpha variable 26-1

TRAV26-2 Gene

T cell recepttrong>ortrong> alpha variable 26-2

TRAV9-1 Gene

T cell recepttrong>ortrong> alpha variable 9-1

TRAV9-2 Gene

T cell recepttrong>ortrong> alpha variable 9-2

TRAJ61 Gene

T cell recepttrong>ortrong> alpha joining 61 (non-functional)

TRAJ60 Gene

T cell recepttrong>ortrong> alpha joining 60 (pseudogene)

TRAV18 Gene

T cell recepttrong>ortrong> alpha variable 18

TRAV19 Gene

T cell recepttrong>ortrong> alpha variable 19

TRAV10 Gene

T cell recepttrong>ortrong> alpha variable 10

TRAV11 Gene

T cell recepttrong>ortrong> alpha variable 11 (pseudogene)

TRAV16 Gene

T cell recepttrong>ortrong> alpha variable 16

TRAV17 Gene

T cell recepttrong>ortrong> alpha variable 17

TRAV15 Gene

T cell recepttrong>ortrong> alpha variable 15 (pseudogene)

TRAV8-1 Gene

T cell recepttrong>ortrong> alpha variable 8-1

TRAV8-3 Gene

T cell recepttrong>ortrong> alpha variable 8-3

TRAV8-2 Gene

T cell recepttrong>ortrong> alpha variable 8-2

TRAV8-5 Gene

T cell recepttrong>ortrong> alpha variable 8-5 (pseudogene)

TRAV8-4 Gene

T cell recepttrong>ortrong> alpha variable 8-4

TRAV8-7 Gene

T cell recepttrong>ortrong> alpha variable 8-7 (non-functional)

TRAV8-6 Gene

T cell recepttrong>ortrong> alpha variable 8-6

TRAC Gene

T cell recepttrong>ortrong> alpha constant

TRA Gene

T cell recepttrong>ortrong> alpha locus

TRAJ59 Gene

T cell recepttrong>ortrong> alpha joining 59 (non-functional)

TRAJ52 Gene

T cell recepttrong>ortrong> alpha joining 52

TRAJ53 Gene

T cell recepttrong>ortrong> alpha joining 53

TRAJ50 Gene

T cell recepttrong>ortrong> alpha joining 50

TRAJ51 Gene

T cell recepttrong>ortrong> alpha joining 51 (pseudogene)

TRAJ55 Gene

T cell recepttrong>ortrong> alpha joining 55 (pseudogene)

TRAV41 Gene

T cell recepttrong>ortrong> alpha variable 41

TRAV40 Gene

T cell recepttrong>ortrong> alpha variable 40

TRAV1-1 Gene

T cell recepttrong>ortrong> alpha variable 1-1

TRAV1-2 Gene

T cell recepttrong>ortrong> alpha variable 1-2

TRAV38-1 Gene

T cell recepttrong>ortrong> alpha variable 38-1

TRAV34 Gene

T cell recepttrong>ortrong> alpha variable 34

TRAV35 Gene

T cell recepttrong>ortrong> alpha variable 35

TRAV37 Gene

T cell recepttrong>ortrong> alpha variable 37 (pseudogene)

TRAV30 Gene

T cell recepttrong>ortrong> alpha variable 30

TRAV32 Gene

T cell recepttrong>ortrong> alpha variable 32 (pseudogene)

TRAV33 Gene

T cell recepttrong>ortrong> alpha variable 33 (pseudogene)

TRAV39 Gene

T cell recepttrong>ortrong> alpha variable 39

TRAV12-1 Gene

T cell recepttrong>ortrong> alpha variable 12-1

TRAV12-3 Gene

T cell recepttrong>ortrong> alpha variable 12-3

TRAV12-2 Gene

T cell recepttrong>ortrong> alpha variable 12-2

TRAV13-1 Gene

T cell recepttrong>ortrong> alpha variable 13-1

TRAV13-2 Gene

T cell recepttrong>ortrong> alpha variable 13-2

TRAJ4 Gene

T cell recepttrong>ortrong> alpha joining 4

TRAJ5 Gene

T cell recepttrong>ortrong> alpha joining 5

TRAJ6 Gene

T cell recepttrong>ortrong> alpha joining 6

TRAJ7 Gene

T cell recepttrong>ortrong> alpha joining 7

TRAJ1 Gene

T cell recepttrong>ortrong> alpha joining 1 (non-functional)

TRAJ2 Gene

T cell recepttrong>ortrong> alpha joining 2 (non-functional)

TRAJ3 Gene

T cell recepttrong>ortrong> alpha joining 3

TRAJ8 Gene

T cell recepttrong>ortrong> alpha joining 8

TRAJ9 Gene

T cell recepttrong>ortrong> alpha joining 9

ITGB1 Gene

integrin, beta 1 (fibronectin recepttrong>ortrong>, beta polypeptide, antigen CD29 includes MDF2, MSK12)

Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane recepttrong>ortrong>s involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumtrong>ortrong> cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

SSR2 Gene

signal sequence recepttrong>ortrong>, beta (translocon-associated protein beta)

The signal sequence recepttrong>ortrong> (SSR) is a glycosylated endoplasmic reticulum (ER) membrane recepttrong>ortrong> associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR trong>ortrong> SSR1) and a 22-kD glycoprotein (beta-SSR trong>ortrong> SSR2). The human beta-signal sequence recepttrong>ortrong> gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]

TFAP2B Gene

transcription facttrong>ortrong> AP-2 beta (activating enhancer binding protein 2 beta)

This gene encodes a member of the AP-2 family of transcription facttrong>ortrong>s. AP-2 proteins ftrong>ortrong>m homo- trong>ortrong> hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity ftrong>ortrong> different promoters. This protein functions as both a transcriptional activattrong>ortrong> and represstrong>ortrong>. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

MGAT3 Gene

mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase

There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl ctrong>ortrong>e of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

COPB2 Gene

coatomer protein complex, subunit beta 2 (beta prime)

The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential ftrong>ortrong> Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]

DBH Gene

dopamine beta-hydroxylase (dopamine beta-monooxygenase)

The protein encoded by this gene is an oxidtrong>ortrong>eductase belonging to the copper type II, asctrong>ortrong>bate-dependent monooxygenase family. It is present in the synaptic vesicles of postganglionic sympathetic neurons and converts dopamine to ntrong>ortrong>epinephrine. It exists in both soluble and membrane-bound ftrong>ortrong>ms, depending on the absence trong>ortrong> presence, respectively, of a signal peptide. [provided by RefSeq, Jul 2008]

TPSAB1 Gene

tryptase alpha/beta 1

Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibittrong>ortrong>s. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiattrong>ortrong> Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediattrong>ortrong>s in the pathogenesis of asthma and other allergic and inflammattrong>ortrong>y distrong>ortrong>ders. [provided by RefSeq, Jul 2008]

ST6GAL2 Gene

ST6 beta-galactosamide alpha-2,6-sialyltranferase 2

This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymtrong>ortrong>phisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

ST6GAL1 Gene

ST6 beta-galactosamide alpha-2,6-sialyltranferase 1

This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is ntrong>ortrong>mally found in the Golgi but can be proteolytically processed to a soluble ftrong>ortrong>m, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been inctrong>ortrong>rectly referred to as CD75. Three transcript variants encoding two different isoftrong>ortrong>ms have been described. [provided by RefSeq, Aug 2009]

LOC101059997 Gene

alpha/beta hydrolase domain-containing protein 17A-like

MGAT5B Gene

mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B

The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]

MGAT1 Gene

mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential ftrong>ortrong> the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential ftrong>ortrong> ntrong>ortrong>mal embryogenesis. Several variants encoding the same protein have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

MGAT2 Gene

mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a shtrong>ortrong>t N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchtrong>ortrong> domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

MGAT5 Gene

mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase

The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most imptrong>ortrong>tant enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive trong>ortrong> migrattrong>ortrong>y behavitrong>ortrong> of a cell. Increase in the activity of this enzyme has been ctrong>ortrong>related with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]

GNPTAB Gene

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential ftrong>ortrong> appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

LOC102723964 Gene

alpha/beta hydrolase domain-containing protein 17A-like

LOC100506747 Gene

alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase-like protein LOC641515 homolog

IFNAR2 Gene

interferon (alpha, beta and omega) recepttrong>ortrong> 2

The protein encoded by this gene is a type I membrane protein that ftrong>ortrong>ms one of the two chains of a recepttrong>ortrong> ftrong>ortrong> interferons alpha and beta. Binding and activation of the recepttrong>ortrong> stimulates Janus protein kinases, which in turn phosphtrong>ortrong>ylate several proteins, including STAT1 and STAT2. Multiple transcript variants encoding at least two different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

IFNAR1 Gene

interferon (alpha, beta and omega) recepttrong>ortrong> 1

The protein encoded by this gene is a type I membrane protein that ftrong>ortrong>ms one of the two chains of a recepttrong>ortrong> ftrong>ortrong> interferons alpha and beta. Binding and activation of the recepttrong>ortrong> stimulates Janus protein kinases, which in turn phosphtrong>ortrong>ylate several proteins, including STAT1 and STAT2. The encoded protein also functions as an antiviral facttrong>ortrong>. [provided by RefSeq, Jul 2008]

NDUFAB1 Gene

NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa

ST3GAL1P1 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1

ST3GAL3 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is ntrong>ortrong>mally found in the Golgi apparatus but can be proteolytically processed to a soluble ftrong>ortrong>m. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with autosomal recessive nonsymdromic mental retardation-12 (MRT12). Multiple transcript variants encoding several different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2012]

ST3GAL2 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 2

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is ntrong>ortrong>mally found in the Golgi but can be proteolytically processed to a soluble ftrong>ortrong>m. This protein, which is a member of glycosyltransferase family 29, can use the same accepttrong>ortrong> substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]

ST3GAL1 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 1

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is ntrong>ortrong>mally found in the Golgi but can be proteolytically processed to a soluble ftrong>ortrong>m. Ctrong>ortrong>rect glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same accepttrong>ortrong> substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found ftrong>ortrong> this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]

ST3GAL6 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 6

The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) trong>ortrong> to the N- trong>ortrong> O-linked sugar chains of glycoproteins. This protein has high specificity ftrong>ortrong> neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the ftrong>ortrong>mation of selectin ligands and sialyl Lewis X, a carbohydrate imptrong>ortrong>tant ftrong>ortrong> cell-to-cell recognition and a blood group antigen. Alternative splicing results in multiple transcript variants that encode different protein isoftrong>ortrong>ms. [provided by RefSeq, Sep 2012]

ST3GAL5 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast mtrong>ortrong>phology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the ftrong>ortrong>mation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

ST3GAL4 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 4

This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammattrong>ortrong>y responses. Multiple transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Dec 2011]

ST3GAL5P1 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 5 pseudogene 1

MGAT4A Gene

mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A

This gene encodes a key glycosyltransferase that regulates the ftrong>ortrong>mation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]

MGAT4B Gene

mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B

This gene encodes a key glycosyltransferase that regulates the ftrong>ortrong>mation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]

ITGA2 Gene

integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 recepttrong>ortrong>)

This gene encodes the alpha subunit of a transmembrane recepttrong>ortrong> ftrong>ortrong> collagens and related proteins. The encoded protein ftrong>ortrong>ms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding distrong>ortrong>der platelet-type 9. Antibodies against this protein are found in several immune distrong>ortrong>ders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ITGA3 Gene

integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 recepttrong>ortrong>)

The protein encoded by this gene belongs to the family of integrins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain, and function as cell surface adhesion molecules. This gene encodes alpha 3 subunit, which undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 subunit to ftrong>ortrong>m an integrin that interacts with many extracellular-matrix proteins. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been identified ftrong>ortrong> this gene. [provided by RefSeq, Oct 2008]

ITGA4 Gene

integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 recepttrong>ortrong>)

The product of this gene belongs to the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an alpha 4 chain. Unlike other integrin alpha chains, alpha 4 neither contains an I-domain, ntrong>ortrong> undergoes disulfide-linked cleavage. Alpha 4 chain associates with either beta 1 chain trong>ortrong> beta 7 chain. [provided by RefSeq, Jul 2008]

ITGA5 Gene

integrin, alpha 5 (fibronectin recepttrong>ortrong>, alpha polypeptide)

The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain. Alpha chain 5 undergoes post-translational cleavage in the extracellular domain to yield disulfide-linked light and heavy chains that join with beta 1 to ftrong>ortrong>m a fibronectin recepttrong>ortrong>. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. [provided by RefSeq, Jan 2015]

ITGAL Gene

integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to ftrong>ortrong>m the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulattrong>ortrong>y signaling. Two transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

ITGAE Gene

integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)

Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein ftrong>ortrong>ms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accesstrong>ortrong>y molecule ftrong>ortrong> IEL activation. [provided by RefSeq, Jul 2008]

LOC100421093 Gene

karyopherin alpha 3 (imptrong>ortrong>tin alpha 4) pseudogene

LOC401913 Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) pseudogene

LOC100422717 Gene

pterin-4 alpha-carbinolamine dehydratase/dimerization cofacttrong>ortrong> of hepatocyte nuclear facttrong>ortrong> 1 alpha (TCF1) 2 pseudogene

TFAP2A Gene

transcription facttrong>ortrong> AP-2 alpha (activating enhancer binding protein 2 alpha)

The protein encoded by this gene is a transcription facttrong>ortrong> that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer trong>ortrong> as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene.[provided by RefSeq, Dec 2009]

KPNA7 Gene

karyopherin alpha 7 (imptrong>ortrong>tin alpha 8)

KPNA6 Gene

karyopherin alpha 6 (imptrong>ortrong>tin alpha 7)

Nucleocytoplasmic transptrong>ortrong>t, a signal- and energy-dependent process, takes place through nuclear ptrong>ortrong>e complexes embedded in the nuclear envelope. The imptrong>ortrong>t of proteins containing a nuclear localization signal (NLS) requires the NLS imptrong>ortrong>t recepttrong>ortrong>, a heterodimer of imptrong>ortrong>tin alpha and beta subunits also known as karyopherins. Imptrong>ortrong>tin alpha binds the NLS-containing cargo in the cytoplasm and imptrong>ortrong>tin beta docks the complex at the cytoplasmic side of the nuclear ptrong>ortrong>e complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear ptrong>ortrong>e complex and the imptrong>ortrong>tin subunits dissociate. Imptrong>ortrong>tin alpha enters the nucleoplasm with its passenger protein and imptrong>ortrong>tin beta remains at the ptrong>ortrong>e. The protein encoded by this gene is a member of the imptrong>ortrong>tin alpha family. [provided by RefSeq, Jul 2008]

KPNA5 Gene

karyopherin alpha 5 (imptrong>ortrong>tin alpha 6)

The transptrong>ortrong>t of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear ptrong>ortrong>e complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear ptrong>ortrong>e by nonselective diffusion; larger molecules are transptrong>ortrong>ted by an active process. Most nuclear proteins contain shtrong>ortrong>t basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the imptrong>ortrong>tin alpha protein family and is thought to be involved in NLS-dependent protein imptrong>ortrong>t into the nucleus. [provided by RefSeq, Jul 2008]

KPNA4 Gene

karyopherin alpha 4 (imptrong>ortrong>tin alpha 3)

The nuclear imptrong>ortrong>t of karyophilic proteins is directed by shtrong>ortrong>t amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, trong>ortrong> imptrong>ortrong>tins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear ptrong>ortrong>e complex. The protein encoded by this gene shares the sequence similarity with Xenopus imptrong>ortrong>tin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]

KPNA3 Gene

karyopherin alpha 3 (imptrong>ortrong>tin alpha 4)

The transptrong>ortrong>t of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear ptrong>ortrong>e complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear ptrong>ortrong>e by nonselective diffusion while larger molecules are transptrong>ortrong>ted by an active process. The protein encoded by this gene belongs to the imptrong>ortrong>tin alpha family, and is involved in nuclear protein imptrong>ortrong>t. [provided by RefSeq, Jan 2009]

KPNA2 Gene

karyopherin alpha 2 (RAG cohtrong>ortrong>t 1, imptrong>ortrong>tin alpha 1)

The imptrong>ortrong>t of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear ptrong>ortrong>e complex. Imptrong>ortrong>ted proteins require a nuclear localization sequence (NLS) which generally consists of a shtrong>ortrong>t region of basic amino acids trong>ortrong> 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear imptrong>ortrong>t have been identified in different systems. These include the Xenopus protein imptrong>ortrong>tin and its yeast homolog, SRP1 (a suppresstrong>ortrong> of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transptrong>ortrong>t of proteins. KPNA2 also may play a role in V(D)J recombination [provided by RefSeq, Jul 2008]

KPNA1 Gene

karyopherin alpha 1 (imptrong>ortrong>tin alpha 5)

The transptrong>ortrong>t of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear ptrong>ortrong>e complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear ptrong>ortrong>e by nonselective diffusion while larger molecules are transptrong>ortrong>ted by an active process. The protein encoded by this gene belongs to the imptrong>ortrong>tin alpha family, and is involved in nuclear protein imptrong>ortrong>t. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

LOC100533843 Gene

karyopherin alpha 2 (RAG cohtrong>ortrong>t 1, imptrong>ortrong>tin alpha 1) pseudogene

LOC402715 Gene

karyopherin alpha 2 (RAG cohtrong>ortrong>t 1, imptrong>ortrong>tin alpha 1) pseudogene

PCBD2 Gene

pterin-4 alpha-carbinolamine dehydratase/dimerization cofacttrong>ortrong> of hepatocyte nuclear facttrong>ortrong> 1 alpha (TCF1) 2

ST8SIA6 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6

Sialic acid is a key determinate of oligosaccharide structures involved in cell-cell communication, cell-substrate interaction, adhesion, and protein targeting. ST8SIA6 belongs to a family of sialyltransferases (EC 2.4.99.8) that synthesize sialylglycoconjugates (Takashima et al., 2002 [PubMed 11980897]).[supplied by OMIM, Mar 2008]

ST8SIA5 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5

The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]

ST8SIA4 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4

The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required ftrong>ortrong> the synthesis of polysialic acid, a modulattrong>ortrong> of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

ST8SIA2 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2

The protein encoded by this gene is a type II membrane protein that is thought to catalyze the transfer of sialic acid from CMP-sialic acid to N-linked oligosaccharides and glycoproteins. The encoded protein may be found in the Golgi apparatus and may be involved in the production of polysialic acid, a modulattrong>ortrong> of the adhesive properties of neural cell adhesion molecule (NCAM1). This protein is a member of glycosyltransferase family 29. [provided by RefSeq, Jul 2008]

ST8SIA1 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1

Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be imptrong>ortrong>tant ftrong>ortrong> cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found ftrong>ortrong> this gene. [provided by RefSeq, Jan 2015]

LOC643513 Gene

karyopherin alpha 2 (RAG cohtrong>ortrong>t 1, imptrong>ortrong>tin alpha 1) pseudogene

LOC391798 Gene

karyopherin alpha 7 (imptrong>ortrong>tin alpha 8) pseudogene

PCBD1 Gene

pterin-4 alpha-carbinolamine dehydratase/dimerization cofacttrong>ortrong> of hepatocyte nuclear facttrong>ortrong> 1 alpha

This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perftrong>ortrong>m mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofacttrong>ortrong> ftrong>ortrong> HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

DEFA1A3 Gene

defensin, alpha 1 and alpha 3, variable copy number locus

ST8SIA3 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3

ST8SIA3 belongs to a family of sialyltransferases that ftrong>ortrong>m sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]

AGL Gene

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen sttrong>ortrong>age disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoftrong>ortrong>ms have been described. [provided by RefSeq, Jul 2008]

LOC100421109 Gene

karyopherin alpha 4 (imptrong>ortrong>tin alpha 3) pseudogene

ABO Gene

ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)

This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A trong>ortrong> B antigen. Other mintrong>ortrong> alleles have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

CRTAM Gene

cytotoxic and regulattrong>ortrong>y 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]

MZB1 Gene

marginal zone B and B1 cell-specific protein

SPDYE12P Gene

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

LOC101929185 Gene

putative glycine-rich cell wall structural protein 1

MEMO1P4 Gene

mediattrong>ortrong> of cell motility 1 pseudogene 4

MEMO1P2 Gene

mediattrong>ortrong> of cell motility 1 pseudogene 2

MEMO1P3 Gene

mediattrong>ortrong> of 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 of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoftrong>ortrong>m 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shtrong>ortrong>ter gene products (isoftrong>ortrong>m 2 and isoftrong>ortrong>m 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]

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 reptrong>ortrong>ted ftrong>ortrong> 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 cofacttrong>ortrong> of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of 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 ftrong>ortrong> this gene. Pseudogenes of 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 of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface recepttrong>ortrong> complex that mediates cell-cell interactions between muscle precurstrong>ortrong> cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoftrong>ortrong>ms. [provided by RefSeq, Sep 2014]

LOC100130203 Gene

cell adhesion associated, oncogene regulated pseudogene

CDC34 Gene

cell division cycle 34

The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required ftrong>ortrong> ubiquitin-mediated degradation of cell cycle G1 regulattrong>ortrong>s, and ftrong>ortrong> the initiation of 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 of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to ftrong>ortrong>m complex with Hsp90 and a variety of 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 of translocation in B-cell malignancies with abntrong>ortrong>malities of 1q21. Its function is unknown. The overexpression of BCL9 may be of 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 facttrong>ortrong> and contains an N-terminal POZ domain. This protein acts as a sequence-specific represstrong>ortrong> of transcription, and has been shown to modulate the transcription of START-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription ctrong>ortrong>epresstrong>ortrong>s. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoftrong>ortrong>ms have been found ftrong>ortrong> 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 of 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-activattrong>ortrong> that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which ftrong>ortrong>ms a part of the auttrong>ortrong>egulattrong>ortrong>y loop that controls the nuclear residence of 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 of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of 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 regulattrong>ortrong>

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. trong>Ortrong>thologs of this gene in yeast, flies, and plants are necessary ftrong>ortrong> the ftrong>ortrong>mation of transcriptionally silent heterochomatin. This gene plays an imptrong>ortrong>tant role in the ftrong>ortrong>mation of 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 DiGetrong>ortrong>ge syndrome, and insufficient production of the gene may disrupt ntrong>ortrong>mal embryonic development. [provided by RefSeq, Jul 2008]

INSL3 Gene

insulin-like 3 (Leydig cell)

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

LOC101929818 Gene

killer cell immunoglobulin-like recepttrong>ortrong> 3DL1

KIR3DX1 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, three domains, X1

MNDA Gene

myeloid cell nuclear differentiation antigen

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

TRGJ2 Gene

T cell recepttrong>ortrong> gamma joining 2

TRGJ1 Gene

T cell recepttrong>ortrong> gamma joining 1

TRGJP Gene

T cell recepttrong>ortrong> gamma joining P

PCNAP1 Gene

proliferating cell nuclear antigen pseudogene 1

PCNAP4 Gene

proliferating cell nuclear antigen pseudogene 4

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 tumtrong>ortrong> 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 of E6. Two alternatively spliced transcript variants that encode different protein isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Nov 2011]

TAGAP Gene

T-cell activation RhoGTPase activating protein

This gene encodes a member of the Rho GTPase-activattrong>ortrong> 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 isoftrong>ortrong>ms. [provided by RefSeq, Jul 2013]

NRCAM Gene

neuronal cell adhesion molecule

Cell adhesion molecules (CAMs) are members of 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 of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoftrong>ortrong>ms. [provided by RefSeq, Jul 2008]

MEMO1P1 Gene

mediattrong>ortrong> of cell motility 1 pseudogene 1

PDCD1LG2 Gene

programmed cell death 1 ligand 2

DRAIC Gene

downregulated RNA in cancer, inhibittrong>ortrong> of cell invasion and migration

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 regulattrong>ortrong>

ZYG11A Gene

zyg-11 family member A, cell cycle regulattrong>ortrong>

HK3 Gene

hexokinase 3 (white cell)

Hexokinases phosphtrong>ortrong>ylate 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 of 3' exons that encode two different proteins. This gene represents the upstream 13 kDa protein that is a member of 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 of this gene is found to enhance the transftrong>ortrong>mation of lymphoblastoid cells, and it complements a transftrong>ortrong>mation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transftrong>ortrong>mation. Two alternatively spliced transcript variants encoding distinct isoftrong>ortrong>ms have been reptrong>ortrong>ted. [provided by RefSeq, Jul 2008]

CDCA4 Gene

cell division cycle associated 4

This gene encodes a protein that belongs to the E2F family of transcription facttrong>ortrong>s. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle trong>ortrong>ganization from prometaphase, and may also play a role as a midzone facttrong>ortrong> involved in chromosome segregation trong>ortrong> cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted ftrong>ortrong> 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 of the chromosomal passenger complex. This complex is an essential regulattrong>ortrong> of mitosis and cell division. This protein is cell-cycle regulated and is required ftrong>ortrong> chromatin-induced microtubule stabilization and spindle ftrong>ortrong>mation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]

MUC4 Gene

mucin 4, cell surface associated

The majtrong>ortrong> constituents of 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 imptrong>ortrong>tant roles in the protection of 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 isoftrong>ortrong>ms may exist. At least two dozen transcript variants of this gene have been found, although ftrong>ortrong> many of them the full-length transcript has not been determined trong>ortrong> they are found only in tumtrong>ortrong> tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 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 of a family that includes at least two type I membrane proteins. This antigen is expressed on most ntrong>ortrong>mal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target ftrong>ortrong> immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]

RGCC Gene

regulattrong>ortrong> of cell cycle

This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, trong>ortrong> by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein ftrong>ortrong>ms 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 of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate trong>ortrong> 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 facttrong>ortrong> C1 regulattrong>ortrong> 1 (XPO1 dependent)

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 of 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 precurstrong>ortrong> cell expressed, developmentally down-regulated 8

NEDD9 Gene

neural precurstrong>ortrong> cell expressed, developmentally down-regulated 9

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

NEDD1 Gene

neural precurstrong>ortrong> cell expressed, developmentally down-regulated 1

HCLS1 Gene

hematopoietic cell-specific Lyn substrate 1

ERICD Gene

E2F1-regulated inhibittrong>ortrong> of cell death (non-protein coding)

TRGV5P Gene

T cell recepttrong>ortrong> gamma variable 5P (pseudogene)

PARD3 Gene

par-3 family cell polarity regulattrong>ortrong>

This gene encodes a member of 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 ftrong>ortrong> this gene. [provided by RefSeq, Oct 2011]

LOC100132330 Gene

mal, T-cell differentiation protein-like pseudogene

CD244 Gene

CD244 molecule, natural killer cell recepttrong>ortrong> 2B4

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

CPA3 Gene

carboxypeptidase A3 (mast cell)

Three different ftrong>ortrong>ms of human pancreatic procarboxypeptidase A have been isolated. This gene encodes a ftrong>ortrong>m which is obtained as a binary complex of a procarboxypeptidase A with proproteinase E and functions as a secrettrong>ortrong>y granule metalloexopeptidase. [provided by RefSeq, Jan 2009]

LIMS3L Gene

LIM and senescent cell antigen-like domains 3-like

TRGV10 Gene

T cell recepttrong>ortrong> gamma variable 10 (non-functional)

TCIRG1 Gene

T-cell, immune regulattrong>ortrong> 1, ATPase, H+ transptrong>ortrong>ting, lysosomal V0 subunit A3

Through alternate splicing, this gene encodes two proteins with similarity to subunits of the vacuolar ATPase (V-ATPase) but the encoded proteins seem to have different functions. V-ATPase is a multisubunit enzyme that mediates acidification of eukaryotic intracellular trong>ortrong>ganelles. V-ATPase dependent trong>ortrong>ganelle acidification is necessary ftrong>ortrong> such intracellular processes as protein strong>ortrong>ting, zymogen activation, and recepttrong>ortrong>-mediated endocytosis. V-ATPase is comprised of 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 phosphtrong>ortrong>ylation of beta-catenin and positively regulates the Wnt signaling pathway. It may function in tumtrong>ortrong> 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 regulattrong>ortrong> of the WNT signaling pathway. It may be upregulated in tumtrong>ortrong> progression. [provided by RefSeq, Jul 2008]

LOC105379645 Gene

killer cell immunoglobulin-like recepttrong>ortrong> 2DL2

SDF2L1 Gene

stromal cell-derived facttrong>ortrong> 2-like 1

LOC101060051 Gene

vegetative cell wall protein gp1-like

BCC5 Gene

Basal cell carcinoma, susceptibility to, 5

LOC105378167 Gene

vegetative cell wall protein gp1-like

MCAM Gene

melanoma cell adhesion molecule

KLRG1 Gene

killer cell lectin-like recepttrong>ortrong> subfamily G, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumtrong>ortrong> cells and virus-infected cells without previous activation. They can also regulate specific humtrong>ortrong>al and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like recepttrong>ortrong> (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. Alternatively spliced transcript variants have been reptrong>ortrong>ted, 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 regulattrong>ortrong> 1

CCAR2 Gene

cell cycle and apoptosis regulattrong>ortrong> 2

LOC100132609 Gene

programmed cell death 2 pseudogene

METRN Gene

metetrong>ortrong>in, glial cell differentiation regulattrong>ortrong>

Metetrong>ortrong>in regulates glial cell differentiation and promotes the ftrong>ortrong>mation of axonal netwtrong>ortrong>ks 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 of 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

KLRG2 Gene

killer cell lectin-like recepttrong>ortrong> subfamily G, member 2

SCLC1 Gene

small cell cancer of the lung

KLRB1 Gene

killer cell lectin-like recepttrong>ortrong> subfamily B, member 1

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

LOC105379650 Gene

killer cell immunoglobulin-like recepttrong>ortrong> 2DS1

LOC101927245 Gene

vegetative cell wall protein gp1-like

CIDECP Gene

cell death-inducing DFFA-like effecttrong>ortrong> 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 of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil facttrong>ortrong> 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]

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 regulattrong>ortrong> imptrong>ortrong>tant ftrong>ortrong> G2/M transition. This protein has been demonstrated to act as a positive regulattrong>ortrong> of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein facttrong>ortrong>s and is required ftrong>ortrong> the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]

KIR2DS5 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, shtrong>ortrong>t cytoplasmic tail, 5

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. [provided by RefSeq, Jul 2008]

1060P11.3 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, three domains, pseudogene

KIR2DS2 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, shtrong>ortrong>t cytoplasmic tail, 2

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a shtrong>ortrong>t cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

LOC105378775 Gene

cell death regulattrong>ortrong> Aven-like

SPDYE10P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E10, pseudogene

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 regulattrong>ortrong> of antibody responses. It is also thought to contribute to tumtrong>ortrong> metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011]

EBF4 Gene

early B-cell facttrong>ortrong> 4

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

EBF3 Gene

early B-cell facttrong>ortrong> 3

This gene encodes a member of the early B-cell facttrong>ortrong> (EBF) family of DNA binding transcription facttrong>ortrong>s. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumtrong>ortrong> suppresstrong>ortrong>s. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation trong>ortrong> deletion of this gene may play a role in multiple malignancies including glioblastoma multiftrong>ortrong>me and gastric carcinoma. [provided by RefSeq, Sep 2011]

EBF2 Gene

early B-cell facttrong>ortrong> 2

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

EBF1 Gene

early B-cell facttrong>ortrong> 1

CGRRF1 Gene

cell growth regulattrong>ortrong> with ring finger domain 1

GLYCAM1 Gene

glycosylation dependent cell adhesion molecule 1 (pseudogene)

PP13 Gene

vegetative cell wall protein gp1

CDCA7L Gene

cell division cycle associated 7-like

TIGIT Gene

T cell immuntrong>ortrong>ecepttrong>ortrong> with Ig and ITIM domains

This gene encodes a member of the PVR (poliovirus recepttrong>ortrong>) family of immunoglobin proteins. The product of this gene is expressed on several classes of 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 recepttrong>ortrong> 3 ligand 1

B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumtrong>ortrong> cells. Interaction of 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 recepttrong>ortrong>, three domains, long cytoplasmic tail, 1

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR3DL2 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, three domains, long cytoplasmic tail, 2

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. This gene is one of the "framewtrong>ortrong>k" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoftrong>ortrong>ms have been observed ftrong>ortrong> this gene. [provided by RefSeq, Jun 2011]

KIR3DL3 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, three domains, long cytoplasmic tail, 3

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. This gene is one of the "framewtrong>ortrong>k" loci that is present on all haplotypes. [provided by RefSeq, Jul 2008]

MEMO1 Gene

mediattrong>ortrong> of 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

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 recepttrong>ortrong>-induced calcium mobilization from intracellular sttrong>ortrong>es. This protein can also promote Lyn-mediated tyrosine phosphtrong>ortrong>ylation of inositol 1,4,5-trisphosphate recepttrong>ortrong>s. Polymtrong>ortrong>phisms 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 ftrong>ortrong> 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 tecttrong>ortrong>ial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be imptrong>ortrong>tant ftrong>ortrong> proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]

CIDEC Gene

cell death-inducing DFFA-like effecttrong>ortrong> c

This gene encodes a member of the cell death-inducing DNA fragmentation facttrong>ortrong>-like effecttrong>ortrong> family. Members of this family play imptrong>ortrong>tant roles in apoptosis. The encoded protein promotes lipid droplet ftrong>ortrong>mation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively ctrong>ortrong>related with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the shtrong>ortrong>t arm of chromosome 3. Alternatively spliced transcript variants that encode different isoftrong>ortrong>ms have been observed ftrong>ortrong> this gene. [provided by RefSeq, Dec 2010]

CIDEA Gene

cell death-inducing DFFA-like effecttrong>ortrong> a

This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation facttrong>ortrong> DFF45 but not by caspase inhibittrong>ortrong>s. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher ctrong>ortrong>e 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 imptrong>ortrong>tant ftrong>ortrong> homodimerization and ftrong>ortrong> conftrong>ortrong>mational changes required ftrong>ortrong> binding to other protein partners. This gene product participates in T cell recepttrong>ortrong>-, Fas-, and glucoctrong>ortrong>ticoid-induced programmed cell death. In mice deficient ftrong>ortrong> this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoftrong>ortrong>ms have been observed ftrong>ortrong> this gene, and a pseudogene of this gene is also located on the shtrong>ortrong>t arm of 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 of the mintrong>ortrong> U12-type spliceosome responsible ftrong>ortrong> catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010]

PDCD4 Gene

programmed cell death 4 (neoplastic transftrong>ortrong>mation inhibittrong>ortrong>)

This gene is a tumtrong>ortrong> suppresstrong>ortrong> and encodes a protein that binds to the eukaryotic translation initiation facttrong>ortrong> 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 imptrong>ortrong>tant regulattrong>ortrong> of 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 of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional represstrong>ortrong> required ftrong>ortrong> 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 of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. In mice, expression of this gene is induced in the thymus when anti-CD3 antibodies are injected and large numbers of thymocytes undergo apoptosis. Mice deficient ftrong>ortrong> 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 imptrong>ortrong>tant in T cell function and contribute to the prevention of 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 phosphtrong>ortrong>yated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential ftrong>ortrong> vascular developent. Mutations in this gene are one cause of cerebral cavernous malftrong>ortrong>mations, which are vascular malftrong>ortrong>mations that cause seizures and cerebral hemtrong>ortrong>rhages. 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 ftrong>ortrong> rRNA maturation and generation of 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 transftrong>ortrong>ming sequence

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

CDON Gene

cell adhesion associated, oncogene regulated

This gene encodes a cell surface recepttrong>ortrong> that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface recepttrong>ortrong> complex that mediates cell-cell interactions between muscle precurstrong>ortrong> cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]

PPDPF Gene

pancreatic progenittrong>ortrong> cell differentiation and proliferation facttrong>ortrong>

LOC102725023 Gene

killer cell immunoglobulin-like recepttrong>ortrong> 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 of a small family of 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 ftrong>ortrong>ming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> 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 adapttrong>ortrong> protein which contains five LIM domains, trong>ortrong> 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 adapttrong>ortrong> protein 2, which is involved in growth facttrong>ortrong> recepttrong>ortrong> kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion trong>ortrong> spreading. Several transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2010]

TRGJP2 Gene

T cell recepttrong>ortrong> gamma joining P2

TRGJP1 Gene

T cell recepttrong>ortrong> gamma joining P1

LOC102725210 Gene

vegetative cell wall protein gp1-like

BOD1 Gene

bitrong>ortrong>ientation of chromosomes in cell division 1

VTCN1 Gene

V-set domain containing T cell activation inhibittrong>ortrong> 1

This gene encodes a protein belonging to the B7 costimulattrong>ortrong>y protein family. Proteins in this family are present on the surface of antigen-presenting cells and interact with ligand bound to recepttrong>ortrong>s on the surface of T cells. Studies have shown that high levels of the encoded protein has been ctrong>ortrong>related with tumtrong>ortrong> progression. A pseudogene of this gene is located on chromosome 20. Multiple transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> 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 of 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 of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoftrong>ortrong>ms have been described ftrong>ortrong> this gene. [provided by RefSeq, Dec 2010]

LAKLG Gene

lymphokine-activated killer cell ligand

NOS3 Gene

nitric oxide synthase 3 (endothelial cell)

Nitric oxide is a reactive free radical which acts as a biologic mediattrong>ortrong> in several processes, including neurotransmission and antimicrobial and antitumtrong>ortrong>al activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to ctrong>ortrong>onary spasm. Multiple transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, May 2009]

TRDV1 Gene

T cell recepttrong>ortrong> delta variable 1

TRDV3 Gene

T cell recepttrong>ortrong> delta variable 3

TRDV2 Gene

T cell recepttrong>ortrong> delta variable 2

URGCP Gene

upregulattrong>ortrong> of cell proliferation

URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of 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 regulattrong>ortrong> family member E15, pseudogene

NCAM1 Gene

neural cell adhesion molecule 1

This gene encodes a cell adhesion protein which is a member of 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 of the nervous system, and ftrong>ortrong> cells involved in the expansion of T cells and dendritic cells which play an imptrong>ortrong>tant 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 of the primary olfacttrong>ortrong>y axons. [provided by RefSeq, Jul 2008]

KIR2DS4 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, shtrong>ortrong>t cytoplasmic tail, 4

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS3 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, shtrong>ortrong>t cytoplasmic tail, 3

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DS1 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, shtrong>ortrong>t cytoplasmic tail, 1

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of 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 regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphtrong>ortrong>ylation of cyclin B-bound CDC2 and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known. [provided by RefSeq, Jul 2008]

CDC25B Gene

cell division cycle 25B

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

CDC25A Gene

cell division cycle 25A

CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required ftrong>ortrong> progression from G1 to the S phase of 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 abntrong>ortrong>malities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

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 regulattrong>ortrong> 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 of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated trong>ortrong> undetectable in many cancer cell lines, so this may be a tumtrong>ortrong> suppresstrong>ortrong> gene. [provided by RefSeq, Jul 2011]

TRGC1 Gene

T cell recepttrong>ortrong> gamma constant 1

TRGC2 Gene

T cell recepttrong>ortrong> 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 of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the ftrong>ortrong>mation of cyclin B-ubiquitin conjugate, which is responsible ftrong>ortrong> the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are imptrong>ortrong>tant ftrong>ortrong> 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 of mitosis. Alternative splicing of 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 of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible ftrong>ortrong> the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008]

CDC20 Gene

cell division cycle 20

CDC20 appears to act as a regulattrong>ortrong>y protein interacting with several other proteins at multiple points in the cell cycle. It is required ftrong>ortrong> two microtubule-dependent processes, nuclear movement pritrong>ortrong> to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]

SPDYE8P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E8, pseudogene

BCAP31 Gene

B-cell recepttrong>ortrong>-associated protein 31

This gene encodes a member of the B-cell recepttrong>ortrong> associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transptrong>ortrong>t of 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 distrong>ortrong>der. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]

NEDD4L Gene

neural precurstrong>ortrong> cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase

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

THY1 Gene

Thy-1 cell surface antigen

DAD1P1 Gene

defender against cell death 1 pseudogene 1

PSHK2 Gene

Pseudohyperkalemia, familial, 2, due to red cell leak

CLNK Gene

cytokine-dependent hematopoietic cell linker

MIST is a member of the SLP76 family of adapttrong>ortrong>s (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immuntrong>ortrong>ecepttrong>ortrong> signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen recepttrong>ortrong> (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 of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphtrong>ortrong>ylates tumtrong>ortrong> suppresstrong>ortrong> protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoftrong>ortrong>ms. [provided by RefSeq, Jul 2008]

CDC14A Gene

cell division cycle 14A

The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphtrong>ortrong>ylate tumtrong>ortrong> suppresstrong>ortrong> protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoftrong>ortrong>ms. [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

ICA1L Gene

islet cell autoantigen 1,69kDa-like

LOC101928242 Gene

cell cycle control protein 50B-like

SPDYE7P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E7, pseudogene

CDC23 Gene

cell division cycle 23

The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential ftrong>ortrong> cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the ftrong>ortrong>mation of cyclin B-ubiquitin conjugate that is responsible ftrong>ortrong> the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain imptrong>ortrong>tant ftrong>ortrong> 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 of 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 of the cell cycle.[provided by RefSeq, Aug 2010]

LOC391239 Gene

V-set domain containing T cell activation inhibittrong>ortrong> 1 pseudogene

RQCD1 Gene

RCD1 required ftrong>ortrong> cell differentiation1 homolog (S. pombe)

This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofacttrong>ortrong> and a ctrong>ortrong>e protein of 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 ftrong>ortrong> this gene. [provided by RefSeq, Oct 2012]

LOC100128775 Gene

neural precurstrong>ortrong> cell expressed, developmentally down-regulated 8 pseudogene

BOD1L2 Gene

bitrong>ortrong>ientation of chromosomes in cell division 1-like 2

BOD1L1 Gene

bitrong>ortrong>ientation of chromosomes in cell division 1-like 1

KLRAP1 Gene

killer cell lectin-like recepttrong>ortrong> subfamily A pseudogene 1

PCNAP2 Gene

proliferating cell nuclear antigen pseudogene 2

TCF7 Gene

transcription facttrong>ortrong> 7 (T-cell specific, HMG-box)

The protein encoded by this gene is a transcriptional activattrong>ortrong> that plays an imptrong>ortrong>tant 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 isoftrong>ortrong>ms have been found ftrong>ortrong> 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 activattrong>ortrong>, eosinophil granule majtrong>ortrong> basic protein)

The protein encoded by this gene is the predominant constituent of the crystalline ctrong>ortrong>e of the eosinophil granule. High levels of the proftrong>ortrong>m of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> 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 of the immunoglobulin family and is similar to ICAM1 and VCAM1. At least seven alternatively spliced transcripts encoding different protein isoftrong>ortrong>ms have been found ftrong>ortrong> this gene, but the full-length nature of 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 of proteins which share a conserved catalytic ctrong>ortrong>e common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harbtrong>ortrong>ing a dual phosphtrong>ortrong>ylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be imptrong>ortrong>tant in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoftrong>ortrong>m, have been identified. [provided by RefSeq, Jul 2008]

ZYG11AP1 Gene

zyg-11 family member A, cell cycle regulattrong>ortrong> pseudogene 1

NET1 Gene

neuroepithelial cell transftrong>ortrong>ming 1

This gene is part of the family of Rho guanine nucleotide exchange facttrong>ortrong>s. Members of this family activate Rho proteins by catalyzing the exchange of GDP ftrong>ortrong> 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 of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoftrong>ortrong>ms. [provided by RefSeq, Jul 2012]

MCTS2P Gene

malignant T cell amplified sequence 2, pseudogene

DSCAM Gene

Down syndrome cell adhesion molecule

This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate ftrong>ortrong> 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 isoftrong>ortrong>ms have been observed ftrong>ortrong> this gene. [provided by RefSeq, Oct 2012]

BCAP31P1 Gene

B-cell recepttrong>ortrong>-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

suppresstrong>ortrong> of cancer cell invasion

This gene encodes a regulattrong>ortrong> of 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 of 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 ftrong>ortrong> 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 of this superfamily member is not yet known. Evidence ftrong>ortrong> alternative splicing at this gene locus has been observed but the full-length nature of additional variants has not yet been determined. [provided by RefSeq, Jul 2008]

PBX4 Gene

pre-B-cell leukemia homeobox 4

This gene encodes a member of the pre-B cell leukemia transcription facttrong>ortrong> family. These proteins are homeobox proteins that play critical roles in embryonic development and cellular differentiation both as Hox cofacttrong>ortrong>s and through Hox-independent pathways. The encoded protein contains a homeobox DNA-binding domain, but specific functions of the protein have not been determined. Alternatively spliced transcript variants have been observed ftrong>ortrong> this gene. [provided by RefSeq, May 2011]

PBX2 Gene

pre-B-cell leukemia homeobox 2

This gene encodes a ubiquitously expressed member of 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 activattrong>ortrong> which binds to the TLX1 promoter. The gene is located within the majtrong>ortrong> 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 of transcriptional facttrong>ortrong>s. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis, and required ftrong>ortrong> 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 of E2A is replaced by the DNA binding domain of this protein, transftrong>ortrong>ms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Mar 2011]

KIR3DS1 Gene

killer cell immunoglobulin-like recepttrong>ortrong>, three domains, shtrong>ortrong>t cytoplasmic tail, 1

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> 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 of 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 of inflammattrong>ortrong>y signaling pathways. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> 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 tumtrong>ortrong> suppresstrong>ortrong> that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of 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 of 3' mRNA processing facttrong>ortrong>s with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumtrong>ortrong> syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]

TCAIM Gene

T cell activation inhibittrong>ortrong>, mitochondrial

AAMP Gene

angio-associated, migrattrong>ortrong>y cell protein

The gene is a member of the immunoglobulin superfamily. The encoded protein is associated with angiogenesis, with potential roles in endothelial tube ftrong>ortrong>mation and the migration of 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

PARD6G Gene

par-6 family cell polarity regulattrong>ortrong> gamma

NCCRP1 Gene

non-specific cytotoxic cell recepttrong>ortrong> protein 1 homolog (zebrafish)

MUC20 Gene

mucin 20, cell surface associated

This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to ftrong>ortrong>m an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of 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 isoftrong>ortrong>ms have been found ftrong>ortrong> 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-stimulattrong>ortrong>

The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface recepttrong>ortrong> family. It ftrong>ortrong>ms homodimers and plays an imptrong>ortrong>tant role in cell-cell signaling, immune responses, and regulation of 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 regulattrong>ortrong> family member E11

TTIM1 Gene

T-cell tumtrong>ortrong> invasion and metastasis 1

NKTR Gene

natural killer cell triggering recepttrong>ortrong>

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

LOC100128721 Gene

stromal cell-derived facttrong>ortrong> 2 pseudogene

CHL1 Gene

cell adhesion molecule L1-like

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

BCC4 Gene

Basal cell carcinoma, susceptibility to, 4

TRDD3 Gene

T cell recepttrong>ortrong> delta diversity 3

TRDD2 Gene

T cell recepttrong>ortrong> delta diversity 2

TRDD1 Gene

T cell recepttrong>ortrong> delta diversity 1

LOC102724621 Gene

cell division cycle protein 27 homolog pseudogene

TRDC Gene

T cell recepttrong>ortrong> delta constant

PSCA Gene

prostate stem cell antigen

This gene encodes a glycosylphosphatidylinositol-anchtrong>ortrong>ed cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proptrong>ortrong>tion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymtrong>ortrong>phism that results in an upstream start codon in some individuals; this polymtrong>ortrong>phism is thought to be associated with a risk ftrong>ortrong> certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

TRG-AS1 Gene

T cell recepttrong>ortrong> gamma locus antisense RNA 1

ALCAM Gene

activated leukocyte cell adhesion molecule

This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin recepttrong>ortrong>s with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been found. [provided by RefSeq, Aug 2011]

HCST Gene

hematopoietic cell signal transducer

This gene encodes a transmembrane signaling adapttrong>ortrong> that contains a YxxM motif in its cytoplasmic domain. The encoded protein may ftrong>ortrong>m part of the immune recognition recepttrong>ortrong> complex with the C-type lectin-like recepttrong>ortrong> NKG2D. As part of this recepttrong>ortrong> complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This recepttrong>ortrong> complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoftrong>ortrong>ms. [provided by RefSeq, Jul 2008]

SDF4 Gene

stromal cell derived facttrong>ortrong> 4

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

SDF2 Gene

stromal cell-derived facttrong>ortrong> 2

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

NKG7 Gene

natural killer cell granule protein 7

GSG2 Gene

germ cell associated 2 (haspin)

GSG1 Gene

germ cell associated 1

TRGV6 Gene

T cell recepttrong>ortrong> gamma variable 6 (pseudogene)

TRGV7 Gene

T cell recepttrong>ortrong> gamma variable 7 (pseudogene)

TRGV4 Gene

T cell recepttrong>ortrong> gamma variable 4

TRGV5 Gene

T cell recepttrong>ortrong> gamma variable 5

TRGV2 Gene

T cell recepttrong>ortrong> gamma variable 2

TRGV3 Gene

T cell recepttrong>ortrong> gamma variable 3

TRGV1 Gene

T cell recepttrong>ortrong> gamma variable 1 (non-functional)

TRGV8 Gene

T cell recepttrong>ortrong> gamma variable 8

TRGV9 Gene

T cell recepttrong>ortrong> gamma variable 9

TRGVB Gene

T cell recepttrong>ortrong> gamma variable B (pseudogene)

TRGVA Gene

T cell recepttrong>ortrong> gamma variable A (pseudogene)

TRAT1 Gene

T cell recepttrong>ortrong> associated transmembrane adapttrong>ortrong> 1

KIR2DL5B Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, long cytoplasmic tail, 5B

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. [provided by RefSeq, Jul 2008]

KIR2DL5A Gene

killer cell immunoglobulin-like recepttrong>ortrong>, two domains, long cytoplasmic tail, 5A

Killer cell immunoglobulin-like recepttrong>ortrong>s (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymtrong>ortrong>phic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte recepttrong>ortrong> complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framewtrong>ortrong>k" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D trong>ortrong> 3D) and by whether they have a long (L) trong>ortrong> shtrong>ortrong>t (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibittrong>ortrong>y signals upon ligand binding via an immune tyrosine-based inhibittrong>ortrong>y motif (ITIM), while KIR proteins with the shtrong>ortrong>t cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands ftrong>ortrong> several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an imptrong>ortrong>tant role in regulation of the immune response. [provided by RefSeq, Jul 2008]

PECAM1 Gene

platelet/endothelial cell adhesion molecule 1

The protein encoded by this gene is found on the surface of platelets, monocytes, neutrophils, and some types of T-cells, and makes up a large ptrong>ortrong>tion of endothelial cell intercellular junctions. The encoded protein is a member of the immunoglobulin superfamily and is likely involved in leukocyte migration, angiogenesis, and integrin activation. [provided by RefSeq, May 2010]

TAL1 Gene

T-cell acute lymphocytic leukemia 1

TAL2 Gene

T-cell acute lymphocytic leukemia 2

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

CDCA4P2 Gene

cell division cycle associated 4 pseudogene 2

PBX2P1 Gene

pre-B-cell leukemia homeobox 2 pseudogene 1

TLX1 Gene

T-cell leukemia homeobox 1

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

TLX2 Gene

T-cell leukemia homeobox 2

This gene is a member of an trong>ortrong>phan homeobox-containing transcription facttrong>ortrong> family. Studies of the mouse trong>ortrong>tholog have shown that the encoded protein is crucial ftrong>ortrong> the development of the enteric nervous system; in humans, loss-of-function may play a role in tumtrong>ortrong>igenesis of gastrointestinal stromal tumtrong>ortrong>s. [provided by RefSeq, May 2010]

TLX3 Gene

T-cell leukemia homeobox 3

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

CDC37P1 Gene

cell division cycle 37 pseudogene 1

CDC37P2 Gene

cell division cycle 37 pseudogene 2

BCL7C Gene

B-cell CLL/lymphoma 7C

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

BCL7B Gene

B-cell CLL/lymphoma 7B

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

BCL7A Gene

B-cell CLL/lymphoma 7A

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

BTG1P1 Gene

B-cell translocation gene 1 pseudogene 1

MSE Gene

myelinating Schwann cell element

GDNF Gene

glial cell derived neurotrophic facttrong>ortrong>

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

CDC45 Gene

cell division cycle 45

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

CDC40 Gene

cell division cycle 40

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

CDC42 Gene

cell division cycle 42

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

TCL1B Gene

T-cell leukemia/lymphoma 1B

TCL1A Gene

T-cell leukemia/lymphoma 1A

Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen recepttrong>ortrong> (TCR)-alpha (MIM 186880) trong>ortrong> TCR-beta (MIM 186930) regulattrong>ortrong>y elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In ntrong>ortrong>mal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivattrong>ortrong> of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]

SPDYE13P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E13, pseudogene

LOC105379662 Gene

killer cell immunoglobulin-like recepttrong>ortrong> 2DS1

LOC442172 Gene

cell division cycle associated 7 pseudogene

SPDYE21P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E21, pseudogene

ELMO2P1 Gene

engulfment and cell motility 2 pseudogene 1

LOC100421663 Gene

cutaneous T-cell lymphoma-associated antigen 1 pseudogene

LOC651644 Gene

LIM and senescent cell antigen-like domains 2 pseudogene

INTU Gene

inturned planar cell polarity protein

LOC100129672 Gene

cell adhesion associated, oncogene regulated pseudogene

TIAM1 Gene

T-cell lymphoma invasion and metastasis 1

TIAM2 Gene

T-cell lymphoma invasion and metastasis 2

This gene encodes a guanine nucleotide exchange facttrong>ortrong>. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoftrong>ortrong>ms have been described. [provided by RefSeq, Jul 2008]

SART1 Gene

squamous cell carcinoma antigen recognized by T cells

This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majtrong>ortrong>ity of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumtrong>ortrong>-rejection antigens. The SART1(259) protein possesses tumtrong>ortrong> epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy ftrong>ortrong> cancer patients and may serve as a paradigmatic tool ftrong>ortrong> the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential ftrong>ortrong> the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]

CDC14BL Gene

CDC14 cell division cycle 14 C-like

SPDYE4 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E4

BCL9P1 Gene

B-cell CLL/lymphoma 9 pseudogene 1

TCF7L1 Gene

transcription facttrong>ortrong> 7-like 1 (T-cell specific, HMG-box)

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

TCF7L2 Gene

transcription facttrong>ortrong> 7-like 2 (T-cell specific, HMG-box)

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

CDC123 Gene

cell division cycle 123

KLRD1 Gene

killer cell lectin-like recepttrong>ortrong> subfamily D, member 1

Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Three transcript variants encoding two different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2008]

ELMO1 Gene

engulfment and cell motility 1

This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicattrong>ortrong> of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicattrong>ortrong> of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymtrong>ortrong>phisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ELMO2 Gene

engulfment and cell motility 2

The protein encoded by this gene interacts with the dedicattrong>ortrong> of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

ELMO3 Gene

engulfment and cell motility 3

The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicattrong>ortrong> of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]

CCPG1 Gene

cell cycle progression 1

MILR1 Gene

mast cell immunoglobulin-like recepttrong>ortrong> 1

ECSCR Gene

endothelial cell surface expressed chemotaxis and apoptosis regulattrong>ortrong>

The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth facttrong>ortrong> recepttrong>ortrong>-2/kinase insert domain recepttrong>ortrong> and also promote the proteolysis of internalized kinase insert domain recepttrong>ortrong>. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

PDCD2L Gene

programmed cell death 2-like

DCANP1 Gene

dendritic cell-associated nuclear protein

This intronless gene is specifically expressed in dendritic cells (DCs), which are potent antigen-presenting cells involved in activating naive T cells to initiate antigen-specific immune response. The encoded protein is localized mainly in the perinucleus. One of the alleles (A/T) of this gene, that causes premature translation termination at aa 117, has been associated with an increased prevalence of majtrong>ortrong> depression in humans. [provided by RefSeq, Jul 2008]

MUC1 Gene

mucin 1, cell surface associated

This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in ftrong>ortrong>ming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that ftrong>ortrong>m a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymtrong>ortrong>phic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]

CDCA4P4 Gene

cell division cycle associated 4 pseudogene 4

CDCA4P1 Gene

cell division cycle associated 4 pseudogene 1

CDCA4P3 Gene

cell division cycle associated 4 pseudogene 3

SPDYE22P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E22, pseudogene

LOC100286895 Gene

cell division cycle 27 homolog pseudogene

KLRK1 Gene

killer cell lectin-like recepttrong>ortrong> subfamily K, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumtrong>ortrong> cells and virus-infected cells without previous activation. They can also regulate specific humtrong>ortrong>al and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane trong>ortrong>ientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-recepttrong>ortrong> interactions can result in the activation of NK and T cells. The surface expression of these ligands is imptrong>ortrong>tant ftrong>ortrong> the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets ftrong>ortrong> the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like recepttrong>ortrong> subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]

BCC1 Gene

Basal cell carcinoma, susceptibility to, 1

BCC2 Gene

Basal cell carcinoma, susceptibility to, 2

BCC3 Gene

Basal cell carcinoma, susceptibility to, 3

METRNL Gene

metetrong>ortrong>in, glial cell differentiation regulattrong>ortrong>-like

VANGL2 Gene

VANGL planar cell polarity protein 2

The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells trong>ortrong> groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]

LOC728739 Gene

programmed cell death 2 pseudogene

TRD Gene

T cell recepttrong>ortrong> delta locus

TRG Gene

T cell recepttrong>ortrong> gamma locus

T cell recepttrong>ortrong>s recognize ftrong>ortrong>eign antigens which have been processed as small peptides and bound to majtrong>ortrong> histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell recepttrong>ortrong> is a dimer consisting of one alpha and one beta chain trong>ortrong> one delta and one gamma chain. In a single cell, the T cell recepttrong>ortrong> loci are rearranged and expressed in the trong>ortrong>der delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline trong>ortrong>ganization of the T cell recepttrong>ortrong> gamma locus. The gamma locus includes V (variable), J (joining), and C (constant) segments. During T cell development, the gamma chain is synthesized by a recombination event at the DNA level joining a V segment with a J segment; the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase. Several V segments of the gamma locus are known to be incapable of encoding a protein and are considered pseudogenes. Somatic rearrangement of the gamma locus has been observed in T cells derived from patients with T cell leukemia and ataxia telangiectasia. [provided by RefSeq, Jul 2008]

CDC42P4 Gene

cell division cycle 42 pseudogene 4

CDC42P6 Gene

cell division cycle 42 pseudogene 6

CDC42P1 Gene

cell division cycle 42 pseudogene 1

CDC42P2 Gene

cell division cycle 42 pseudogene 2

LOC100421630 Gene

cutaneous T-cell lymphoma-associated antigen 1 pseudogene

CEND1P1 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 1

CEND1P2 Gene

cell cycle exit and neuronal differentiation 1 pseudogene 2

ECT2 Gene

epithelial cell transftrong>ortrong>ming 2

The protein encoded by this gene is a guanine nucleotide exchange facttrong>ortrong> and transftrong>ortrong>ming protein that is related to Rho-specific exchange facttrong>ortrong>s and yeast cell cycle regulattrong>ortrong>s. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an imptrong>ortrong>tant role in the regulation of cytokinesis. Several transcript variants encoding two different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Apr 2012]

TRDJ4 Gene

T cell recepttrong>ortrong> delta joining 4

TRDJ1 Gene

T cell recepttrong>ortrong> delta joining 1

TRDJ3 Gene

T cell recepttrong>ortrong> delta joining 3

TRDJ2 Gene

T cell recepttrong>ortrong> delta joining 2

SPDYE14P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E14, pseudogene

KLRC1 Gene

killer cell lectin-like recepttrong>ortrong> subfamily C, member 1

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumtrong>ortrong> cells and virus-infected cells without previous activation. They can also regulate specific humtrong>ortrong>al and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like recepttrong>ortrong> family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane trong>ortrong>ientation and the presence of a C-type lectin domain. This protein ftrong>ortrong>ms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members ftrong>ortrong>m a killer cell lectin-like recepttrong>ortrong> gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoftrong>ortrong>ms have been observed. [provided by RefSeq, Jan 2015]

KLRC3 Gene

killer cell lectin-like recepttrong>ortrong> subfamily C, member 3

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumtrong>ortrong> cells and virus-infected cells without previous activation. They can also regulate specific humtrong>ortrong>al and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane trong>ortrong>ientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoftrong>ortrong>ms. [provided by RefSeq, Jul 2008]

KLRC2 Gene

killer cell lectin-like recepttrong>ortrong> subfamily C, member 2

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumtrong>ortrong> cells and virus-infected cells without previous activation. They can also regulate specific humtrong>ortrong>al and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane trong>ortrong>ientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

KLRC4 Gene

killer cell lectin-like recepttrong>ortrong> subfamily C, member 4

Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumtrong>ortrong> cells and virus-infected cells without previous activation. They can also regulate specific humtrong>ortrong>al and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane trong>ortrong>ientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like recepttrong>ortrong> subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]

MALL Gene

mal, T-cell differentiation protein-like

This gene encodes an element of the machinery ftrong>ortrong> raft-mediated trafficking in endothelial cells. The encoded protein, a member of the MAL proteolipid family, predominantly localizes in glycolipid- and cholesterol-enriched membrane (GEM) rafts. It interacts with caveolin-1. [provided by RefSeq, Jul 2008]

MAL2 Gene

mal, T-cell differentiation protein 2 (gene/pseudogene)

This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required ftrong>ortrong> transcytosis, an intracellular transptrong>ortrong>t pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]

MCF2L Gene

MCF.2 cell line derived transftrong>ortrong>ming sequence-like

LOC105376731 Gene

taste recepttrong>ortrong> cell protein 1-like

ZER1 Gene

zyg-11 related, cell cycle regulattrong>ortrong>

This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]

LOC100288590 Gene

cutaneous T-cell lymphoma-associated antigen 1 pseudogene

LOC100967224 Gene

neuroepithelial cell transftrong>ortrong>ming 1 pseudogene

LOC100967223 Gene

neuroepithelial cell transftrong>ortrong>ming 1 pseudogene

BAD Gene

BCL2-associated agonist of cell death

The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulattrong>ortrong>s of programmed cell death. This protein positively regulates cell apoptosis by ftrong>ortrong>ming heterodimers with BCL-xL and BCL-2, and reversing their death represstrong>ortrong> activity. Proapoptotic activity of this protein is regulated through its phosphtrong>ortrong>ylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoftrong>ortrong>m. [provided by RefSeq, Jul 2008]

HCFC2P1 Gene

host cell facttrong>ortrong> C2 pseudogene 1

MCEMP1 Gene

mast cell-expressed membrane protein 1

This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation trong>ortrong> immune responses. [provided by RefSeq, Jul 2008]

CDC16 Gene

cell division cycle 16

This gene encodes a component protein of the APC complex, which is composed of eight proteins and functions as a protein ubiquitin ligase. The APC complex is a cyclin degradation system that governs exit from mitosis. Each component protein of the APC complex is highly conserved among eukaryotic trong>ortrong>ganisms. This protein and two other APC complex proteins, CDC23 and CDC27, contain a tetratricopeptide repeat (TPR), a protein domain that may be involved in protein-protein interaction. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]

BCAP29 Gene

B-cell recepttrong>ortrong>-associated protein 29

ECT2L Gene

epithelial cell transftrong>ortrong>ming 2 like

SPDYE9P Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E9, pseudogene

SPDYE5 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E5

SPDYE6 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E6

SPDYE1 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E1

This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]

SPDYE3 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E3

SPDYE2 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E2

ERAS Gene

ES cell expressed Ras

This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]

TGCT1 Gene

testicular germ cell tumtrong>ortrong> susceptibility 1

ICA1 Gene

islet cell autoantigen 1, 69kDa

This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound ftrong>ortrong>m on the Golgi complex and immature secrettrong>ortrong>y granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Feb 2013]

LOC100420644 Gene

cell division cycle associated 8 pseudogene

CDC6 Gene

cell division cycle 6

The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential ftrong>ortrong> the initiation of DNA replication. This protein functions as a regulattrong>ortrong> at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphtrong>ortrong>ylation by Cdks. Transcription of this protein was reptrong>ortrong>ted to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]

CDC7 Gene

cell division cycle 7

This gene encodes a cell division cycle protein with kinase activity that is critical ftrong>ortrong> the G1/S transition. The yeast homolog is also essential ftrong>ortrong> initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transftrong>ortrong>mation ftrong>ortrong> some tumtrong>ortrong>s. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]

CEACAMP10 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 10

CEACAMP11 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 11

ITK Gene

IL2-inducible T-cell kinase

This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

BCL9L Gene

B-cell CLL/lymphoma 9-like

SPDYE18 Gene

speedy/RINGO cell cycle regulattrong>ortrong> family member E18

ESM1 Gene

endothelial cell-specific molecule 1

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

MAK Gene

male germ cell-associated kinase

The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. There is, however, a study of the mouse homolog that has identified high levels of expression in developing senstrong>ortrong>y epithelia so its function may be mtrong>ortrong>e generalized. Three transcript variants encoding different isoftrong>ortrong>ms have been found ftrong>ortrong> this gene. [provided by RefSeq, Jul 2011]

MAL Gene

mal, T-cell differentiation protein

The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/trong>ortrong> function. The protein plays a role in the ftrong>ortrong>mation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence trong>ortrong> absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]

CDC37L1 Gene

cell division cycle 37-like 1

CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]

CEACAMP8 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 8

CEACAMP9 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 9

CEACAMP2 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 2

CEACAMP3 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 3

CEACAMP1 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 1

CEACAMP6 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 6

CEACAMP7 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 7

CEACAMP4 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 4

CEACAMP5 Gene

carcinoembryonic antigen-related cell adhesion molecule pseudogene 5

LOC105369139 Gene

killer cell immunoglobulin-like recepttrong>ortrong> 2DS3

PCNAP3 Gene

proliferating cell nuclear antigen pseudogene 3

LOC100420949 Gene

neuroepithelial cell transftrong>ortrong>ming 1 pseudogene

ICOSLG Gene

inducible T-cell co-stimulattrong>ortrong> ligand

DSCAML1 Gene

Down syndrome cell adhesion molecule like 1

CIDEB Gene

cell death-inducing DFFA-like effecttrong>ortrong> b

CEACAM22P Gene

carcinoembryonic antigen-related cell adhesion molecule 22, pseudogene

TP250 Gene

T-cell activation antigen p250

MCF2L2 Gene

MCF.2 cell line derived transftrong>ortrong>ming sequence-like 2

CGREF1 Gene

cell growth regulattrong>ortrong> with EF-hand domain 1

LOC651714 Gene

mucin 20, cell surface associated pseudogene

BCL10 Gene

B-cell CLL/lymphoma 10

This gene was identified by it