psui3905/ncbi_genes_summary huggingface dataset:
DOC2A, Official Symbol DOC2Aprovided by HGNC Official Full Name double C2 domain alphaprovided by HGNC Primary source HGNC:HGNC:2985 See related Ensembl:ENSG00000149927 MIM:604567; AllianceGenome:HGNC:2985 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Doc2 Summary There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in brain (RPKM 11.9), testis (RPKM 7.1) and 15 other tissues See more Orthologs mouse all
DOC2B, Official Symbol DOC2Bprovided by HGNC Official Full Name double C2 domain betaprovided by HGNC Primary source HGNC:HGNC:2986 See related Ensembl:ENSG00000272636 MIM:604568; AllianceGenome:HGNC:2986 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOC2BL Summary There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 3.2), bone marrow (RPKM 2.6) and 22 other tissues See more Orthologs mouse all
DOCK1, Official Symbol DOCK1provided by HGNC Official Full Name dedicator of cytokinesis 1provided by HGNC Primary source HGNC:HGNC:2987 See related Ensembl:ENSG00000150760 MIM:601403; AllianceGenome:HGNC:2987 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ced5; DOCK180 Summary This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Ubiquitous expression in thyroid (RPKM 10.9), skin (RPKM 10.0) and 24 other tissues See more Orthologs mouse all
DOCK10, Official Symbol DOCK10provided by HGNC Official Full Name dedicator of cytokinesis 10provided by HGNC Primary source HGNC:HGNC:23479 See related Ensembl:ENSG00000135905 MIM:611518; AllianceGenome:HGNC:23479 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZIZ3; DRIP2; Nbla10300 Summary This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014] Expression Broad expression in spleen (RPKM 10.3), lymph node (RPKM 9.4) and 22 other tissues See more Orthologs mouse all
DOCK11, Official Symbol DOCK11provided by HGNC Official Full Name dedicator of cytokinesis 11provided by HGNC Primary source HGNC:HGNC:23483 See related Ensembl:ENSG00000147251 MIM:300681; AllianceGenome:HGNC:23483 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ACG; ZIZ2; ADMIDX; bB128O4.1 Summary Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in several processes, including marginal zone B cell differentiation; positive regulation of GTPase activity; and positive regulation of filopodium assembly. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 20.0), lymph node (RPKM 11.7) and 19 other tissues See more Orthologs mouse all
DOCK2, Official Symbol DOCK2provided by HGNC Official Full Name dedicator of cytokinesis 2provided by HGNC Primary source HGNC:HGNC:2988 See related Ensembl:ENSG00000134516 MIM:603122; AllianceGenome:HGNC:2988 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMD40 Summary The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018] Expression Broad expression in lymph node (RPKM 13.3), bone marrow (RPKM 11.2) and 15 other tissues See more Orthologs mouse all
DOCK3, Official Symbol DOCK3provided by HGNC Official Full Name dedicator of cytokinesis 3provided by HGNC Primary source HGNC:HGNC:2989 See related Ensembl:ENSG00000088538 MIM:603123; AllianceGenome:HGNC:2989 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PBP; MOCA; NEDIDHA Summary This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010] Expression Biased expression in brain (RPKM 7.9), thyroid (RPKM 4.0) and 6 other tissues See more Orthologs mouse all
DOCK4, Official Symbol DOCK4provided by HGNC Official Full Name dedicator of cytokinesis 4provided by HGNC Primary source HGNC:HGNC:19192 See related Ensembl:ENSG00000128512 MIM:607679; AllianceGenome:HGNC:19192 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 9.6), brain (RPKM 9.0) and 23 other tissues See more Orthologs mouse all
DOCK4-AS1, Official Symbol DOCK4-AS1provided by HGNC Official Full Name DOCK4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40876 See related Ensembl:ENSG00000225572 AllianceGenome:HGNC:40876 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 2.8) See more
DOCK5, Official Symbol DOCK5provided by HGNC Official Full Name dedicator of cytokinesis 5provided by HGNC Primary source HGNC:HGNC:23476 See related Ensembl:ENSG00000147459 MIM:616904; AllianceGenome:HGNC:23476 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in spleen (RPKM 6.2), small intestine (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
DOCK6, Official Symbol DOCK6provided by HGNC Official Full Name dedicator of cytokinesis 6provided by HGNC Primary source HGNC:HGNC:19189 See related Ensembl:ENSG00000130158 MIM:614194; AllianceGenome:HGNC:19189 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOS2; ZIR1 Summary This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in fat (RPKM 16.5), lung (RPKM 12.6) and 24 other tissues See more Orthologs mouse all
DOCK7, Official Symbol DOCK7provided by HGNC Official Full Name dedicator of cytokinesis 7provided by HGNC Primary source HGNC:HGNC:19190 See related Ensembl:ENSG00000116641 MIM:615730; AllianceGenome:HGNC:19190 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZIR2; DEE23; EIEE23 Summary The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in testis (RPKM 8.6), ovary (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
DOCK8, Official Symbol DOCK8provided by HGNC Official Full Name dedicator of cytokinesis 8provided by HGNC Primary source HGNC:HGNC:19191 See related Ensembl:ENSG00000107099 MIM:611432; AllianceGenome:HGNC:19191 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRD2; ZIR8; HEL-205 Summary This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010] Expression Broad expression in lymph node (RPKM 24.2), spleen (RPKM 23.1) and 21 other tissues See more Orthologs mouse all
DOCK8-AS1, Official Symbol DOCK8-AS1provided by HGNC Official Full Name DOCK8 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:26436 See related Ensembl:ENSG00000183784 AllianceGenome:HGNC:26436 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C9orf66 Orthologs all
DOCK9, Official Symbol DOCK9provided by HGNC Official Full Name dedicator of cytokinesis 9provided by HGNC Primary source HGNC:HGNC:14132 See related Ensembl:ENSG00000088387 MIM:607325; AllianceGenome:HGNC:14132 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ZIZ1; ZIZIMIN1 Summary Enables cadherin binding activity. Predicted to be involved in positive regulation of GTPase activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 21.7), thyroid (RPKM 20.1) and 23 other tissues See more Orthologs mouse all
DOCK9-AS1, Official Symbol DOCK9-AS1provided by HGNC Official Full Name DOCK9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40672 See related Ensembl:ENSG00000229918 AllianceGenome:HGNC:40672 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
DOHH, Official Symbol DOHHprovided by HGNC Official Full Name deoxyhypusine hydroxylaseprovided by HGNC Primary source HGNC:HGNC:28662 See related Ensembl:ENSG00000129932 MIM:611262; AllianceGenome:HGNC:28662 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HLRC1; hDOHH; NEDMVIC Summary This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009] Expression Ubiquitous expression in kidney (RPKM 3.6), brain (RPKM 3.1) and 25 other tissues See more Orthologs mouse all
DOK1, Official Symbol DOK1provided by HGNC Official Full Name docking protein 1provided by HGNC Primary source HGNC:HGNC:2990 See related Ensembl:ENSG00000115325 MIM:602919; AllianceGenome:HGNC:2990 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as pp62; P62DOK Summary The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in fat (RPKM 6.6), spleen (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
DOK2, Official Symbol DOK2provided by HGNC Official Full Name docking protein 2provided by HGNC Primary source HGNC:HGNC:2991 See related Ensembl:ENSG00000147443 MIM:604997; AllianceGenome:HGNC:2991 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p56DOK; p56dok-2 Summary The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 18.2), lung (RPKM 14.7) and 18 other tissues See more Orthologs mouse all
DOK3, Official Symbol DOK3provided by HGNC Official Full Name docking protein 3provided by HGNC Primary source HGNC:HGNC:24583 See related Ensembl:ENSG00000146094 MIM:611435; AllianceGenome:HGNC:24583 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOKL Summary Predicted to be involved in Ras protein signal transduction and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be located in ficolin-1-rich granule membrane and plasma membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 31.4), spleen (RPKM 15.5) and 11 other tissues See more Orthologs mouse all
DOK4, Official Symbol DOK4provided by HGNC Official Full Name docking protein 4provided by HGNC Primary source HGNC:HGNC:19868 See related Ensembl:ENSG00000125170 MIM:608333; AllianceGenome:HGNC:19868 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRS5; IRS-5 Summary Predicted to be involved in positive regulation of MAPK cascade and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within nervous system development. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 23.2), small intestine (RPKM 21.5) and 25 other tissues See more Orthologs mouse all
DOK5, Official Symbol DOK5provided by HGNC Official Full Name docking protein 5provided by HGNC Primary source HGNC:HGNC:16173 See related Ensembl:ENSG00000101134 MIM:608334; AllianceGenome:HGNC:16173 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IRS6; IRS-6; C20orf180 Summary The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Biased expression in brain (RPKM 5.9), heart (RPKM 5.0) and 12 other tissues See more Orthologs mouse all
DOK6, Official Symbol DOK6provided by HGNC Official Full Name docking protein 6provided by HGNC Primary source HGNC:HGNC:28301 See related Ensembl:ENSG00000206052 MIM:611402; AllianceGenome:HGNC:28301 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOK5L; HsT3226 Summary DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008] Expression Biased expression in brain (RPKM 6.3), kidney (RPKM 1.5) and 10 other tissues See more Orthologs mouse all
DOK7, Official Symbol DOK7provided by HGNC Official Full Name docking protein 7provided by HGNC Primary source HGNC:HGNC:26594 See related Ensembl:ENSG00000175920 MIM:610285; AllianceGenome:HGNC:26594 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMS10; CMS1B; FADS3; C4orf25 Summary The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Biased expression in heart (RPKM 3.1), testis (RPKM 1.0) and 9 other tissues See more Orthologs mouse all
DOLK, Official Symbol DOLKprovided by HGNC Official Full Name dolichol kinaseprovided by HGNC Primary source HGNC:HGNC:23406 See related Ensembl:ENSG00000175283 MIM:610746; AllianceGenome:HGNC:23406 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DK; DK1; CDG1M; SEC59; TMEM15 Summary The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010] Orthologs mouse all
DOLPP1, Official Symbol DOLPP1provided by HGNC Official Full Name dolichyldiphosphatase 1provided by HGNC Primary source HGNC:HGNC:29565 See related Ensembl:ENSG00000167130 MIM:614516; AllianceGenome:HGNC:29565 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LSFR2 Summary A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012] Expression Ubiquitous expression in duodenum (RPKM 12.5), small intestine (RPKM 11.5) and 25 other tissues See more Orthologs mouse all
DONSON, Official Symbol DONSONprovided by HGNC Official Full Name DNA replication fork stabilization factor DONSONprovided by HGNC Primary source HGNC:HGNC:2993 See related Ensembl:ENSG00000159147 MIM:611428; AllianceGenome:HGNC:2993 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B17; MIMIS; MISSLA; C21orf60 Summary This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008] Expression Broad expression in testis (RPKM 22.3), urinary bladder (RPKM 14.4) and 23 other tissues See more Orthologs mouse all
DOP1A, Official Symbol DOP1Aprovided by HGNC Official Full Name DOP1 leucine zipper like protein Aprovided by HGNC Primary source HGNC:HGNC:21194 See related Ensembl:ENSG00000083097 MIM:616823; AllianceGenome:HGNC:21194 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOP1; DOPEY1; KIAA1117; dJ202D23.2 Summary Predicted to be involved in Golgi to endosome transport and endoplasmic reticulum organization. Predicted to be located in Golgi membrane. Predicted to be active in endosome and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.7) and 25 other tissues See more Orthologs mouse all
DOP1B, Official Symbol DOP1Bprovided by HGNC Official Full Name DOP1 leucine zipper like protein Bprovided by HGNC Primary source HGNC:HGNC:1291 See related Ensembl:ENSG00000142197 MIM:604803; AllianceGenome:HGNC:1291 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 21orf5; DOPEY2; C21orf5 Summary Involved in cognition. Located in early endosome membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 9.1), bone marrow (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
DOT1L, Official Symbol DOT1Lprovided by HGNC Official Full Name DOT1 like histone lysine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:24948 See related Ensembl:ENSG00000104885 MIM:607375; AllianceGenome:HGNC:24948 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOT1; KMT4 Summary The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011] Expression Broad expression in testis (RPKM 18.3), bone marrow (RPKM 5.1) and 22 other tissues See more Orthologs mouse all
DPAGT1, Official Symbol DPAGT1provided by HGNC Official Full Name dolichyl-phosphate N-acetylglucosaminephosphotransferase 1provided by HGNC Primary source HGNC:HGNC:2995 See related Ensembl:ENSG00000172269 MIM:191350; AllianceGenome:HGNC:2995 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GPT; ALG7; DGPT; G1PT; UAGT; UGAT; CDG1J; CMS13; DPAGT; CDG-Ij; CMSTA2; DPAGT2; D11S366 Summary The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 9.9), urinary bladder (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
DPCD, Official Symbol DPCDprovided by HGNC Official Full Name deleted in primary ciliary dyskinesia homolog (mouse)provided by HGNC Primary source HGNC:HGNC:24542 See related Ensembl:ENSG00000166171 MIM:616467; AllianceGenome:HGNC:24542 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene in mouse encodes a protein that may be involved in the generation and maintenance of ciliated cells. In mouse, expression of this gene increases during ciliated cell differentiation, and disruption of this gene has been linked to primary ciliary dyskinesia. [provided by RefSeq, Jul 2016] Expression Broad expression in testis (RPKM 51.1), kidney (RPKM 13.2) and 19 other tissues See more Orthologs mouse all
DPEP1, Official Symbol DPEP1provided by HGNC Official Full Name dipeptidase 1provided by HGNC Primary source HGNC:HGNC:3002 See related Ensembl:ENSG00000015413 MIM:179780; AllianceGenome:HGNC:3002 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MDP; RDP; MBD1 Summary The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020] Expression Biased expression in small intestine (RPKM 104.6), kidney (RPKM 102.2) and 3 other tissues See more Orthologs mouse all
DPEP2, Official Symbol DPEP2provided by HGNC Official Full Name dipeptidase 2provided by HGNC Primary source HGNC:HGNC:23028 See related Ensembl:ENSG00000167261 MIM:609925; AllianceGenome:HGNC:23028 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBD2 Summary DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008] Expression Broad expression in spleen (RPKM 6.2), lymph node (RPKM 3.2) and 14 other tissues See more Orthologs all
DPEP2NB, Official Symbol DPEP2NBprovided by HGNC Official Full Name DPEP2 neighborprovided by HGNC Primary source HGNC:HGNC:52385 See related Ensembl:ENSG00000263201 AllianceGenome:HGNC:52385 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in testis (RPKM 1.2), placenta (RPKM 0.6) and 1 other tissue See more Orthologs all
DPEP3, Official Symbol DPEP3provided by HGNC Official Full Name dipeptidase 3provided by HGNC Primary source HGNC:HGNC:23029 See related Ensembl:ENSG00000141096 MIM:609926; AllianceGenome:HGNC:23029 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBD3 Summary This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 28.2) See more Orthologs mouse all
DPF1, Official Symbol DPF1provided by HGNC Official Full Name double PHD fingers 1provided by HGNC Primary source HGNC:HGNC:20225 See related Ensembl:ENSG00000011332 MIM:601670; AllianceGenome:HGNC:20225 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEUD4; BAF45b; SMARCG1; neuro-d4 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated; nervous system development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of nBAF complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.5) and testis (RPKM 0.6) See more Orthologs mouse all
DPF2, Official Symbol DPF2provided by HGNC Official Full Name double PHD fingers 2provided by HGNC Primary source HGNC:HGNC:9964 See related Ensembl:ENSG00000133884 MIM:601671; AllianceGenome:HGNC:9964 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as REQ; CSS7; UBID4; ubi-d4; SMARCG2 Summary The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 23.7), ovary (RPKM 23.0) and 25 other tissues See more Orthologs mouse all
DPF3, Official Symbol DPF3provided by HGNC Official Full Name double PHD fingers 3provided by HGNC Primary source HGNC:HGNC:17427 See related Ensembl:ENSG00000205683 MIM:601672; AllianceGenome:HGNC:17427 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CERD4; BAF45C; SMARCG3 Summary This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Biased expression in ovary (RPKM 2.9), heart (RPKM 2.2) and 11 other tissues See more Orthologs mouse all
DPH1, Official Symbol DPH1provided by HGNC Official Full Name diphthamide biosynthesis 1provided by HGNC Primary source HGNC:HGNC:3003 See related Ensembl:ENSG00000108963 MIM:603527; AllianceGenome:HGNC:3003 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DPH2L; OVCA1; DEDSSH; DPH2L1 Summary The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in prostate (RPKM 16.8), thyroid (RPKM 16.0) and 25 other tissues See more Orthologs mouse all
DPH2, Official Symbol DPH2provided by HGNC Official Full Name diphthamide biosynthesis 2provided by HGNC Primary source HGNC:HGNC:3004 See related Ensembl:ENSG00000132768 MIM:603456; AllianceGenome:HGNC:3004 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DPH2L2; DEDSSH2 Summary This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in lymph node (RPKM 6.6), appendix (RPKM 6.4) and 25 other tissues See more Orthologs mouse all
DPH3, Official Symbol DPH3provided by HGNC Official Full Name diphthamide biosynthesis 3provided by HGNC Primary source HGNC:HGNC:27717 See related Ensembl:ENSG00000154813 MIM:608959; AllianceGenome:HGNC:27717 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DESR1; DPH3A; KTI11; ZCSL2; DELGIP; DELGIP1 Summary This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009] Expression Ubiquitous expression in thyroid (RPKM 7.2), small intestine (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
DPH3P2, Official Symbol DPH3P2provided by HGNC Official Full Name diphthamide biosynthesis 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38719 See related Ensembl:ENSG00000237040 Ensembl:ENSG00000292365 AllianceGenome:HGNC:38719 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPH5, Official Symbol DPH5provided by HGNC Official Full Name diphthamide biosynthesis 5provided by HGNC Primary source HGNC:HGNC:24270 See related Ensembl:ENSG00000117543 MIM:611075; AllianceGenome:HGNC:24270 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AD-018; CGI-30; NEDSFF; NPD015; HSPC143 Summary This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 15.2), thyroid (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
DPH6, Official Symbol DPH6provided by HGNC Official Full Name diphthamine biosynthesis 6provided by HGNC Primary source HGNC:HGNC:30543 See related Ensembl:ENSG00000134146 MIM:618391; AllianceGenome:HGNC:30543 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATPBD4 Summary Enables diphthine-ammonia ligase activity. Predicted to be involved in peptidyl-diphthamide biosynthetic process from peptidyl-histidine. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 1.3), ovary (RPKM 0.9) and 25 other tissues See more Orthologs mouse all
DPH7, Official Symbol DPH7provided by HGNC Official Full Name diphthamide biosynthesis 7provided by HGNC Primary source HGNC:HGNC:25199 See related Ensembl:ENSG00000148399 MIM:613210; AllianceGenome:HGNC:25199 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RRT2; WDR85; C9orf112 Summary Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016] Expression Ubiquitous expression in testis (RPKM 4.1), spleen (RPKM 3.9) and 25 other tissues See more Orthologs mouse all
DPM1, Official Symbol DPM1provided by HGNC Official Full Name dolichyl-phosphate mannosyltransferase subunit 1, catalyticprovided by HGNC Primary source HGNC:HGNC:3005 See related Ensembl:ENSG00000000419 MIM:603503; AllianceGenome:HGNC:3005 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPDS; CDGIE Summary Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in adrenal (RPKM 24.6), thyroid (RPKM 23.5) and 25 other tissues See more Orthologs mouse all
DPM2, Official Symbol DPM2provided by HGNC Official Full Name dolichyl-phosphate mannosyltransferase subunit 2, regulatoryprovided by HGNC Primary source HGNC:HGNC:3006 See related Ensembl:ENSG00000136908 MIM:603564; AllianceGenome:HGNC:3006 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CDG1U Summary Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in stomach (RPKM 13.1), thyroid (RPKM 12.2) and 25 other tissues See more Orthologs mouse all
DPM3, Official Symbol DPM3provided by HGNC Official Full Name dolichyl-phosphate mannosyltransferase subunit 3, regulatoryprovided by HGNC Primary source HGNC:HGNC:3007 See related Ensembl:ENSG00000179085 MIM:605951; AllianceGenome:HGNC:3007 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CDG1O; MDDGB15; MDDGC15 Summary Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 20.5), colon (RPKM 20.2) and 25 other tissues See more Orthologs mouse all