psui3905/ncbi_genes_summary huggingface dataset:
DPP10, Official Symbol DPP10provided by HGNC Official Full Name dipeptidyl peptidase like 10provided by HGNC Primary source HGNC:HGNC:20823 See related Ensembl:ENSG00000175497 MIM:608209; AllianceGenome:HGNC:20823 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 DPL2; DPPY; DPRP3; DPRP-3 Summary This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 7.5), adrenal (RPKM 2.9) and 2 other tissues See more Orthologs mouse all
DPP10-AS1, Official Symbol DPP10-AS1provided by HGNC Official Full Name DPP10 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40941 See related Ensembl:ENSG00000235026 AllianceGenome:HGNC:40941 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 Biased expression in testis (RPKM 7.4), brain (RPKM 3.8) and 7 other tissues See more
DPP10-AS3, Official Symbol DPP10-AS3provided by HGNC Official Full Name DPP10 antisense RNA 3provided by HGNC Primary source HGNC:HGNC:40939 See related Ensembl:ENSG00000231538 AllianceGenome:HGNC:40939 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 1.9) See more
DPP3, Official Symbol DPP3provided by HGNC Official Full Name dipeptidyl peptidase 3provided by HGNC Primary source HGNC:HGNC:3008 See related Ensembl:ENSG00000254986 MIM:606818; AllianceGenome:HGNC:3008 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 DPPIII Summary This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in colon (RPKM 13.2), appendix (RPKM 10.5) and 25 other tissues See more Orthologs mouse all
DPP3P2, Official Symbol DPP3P2provided by HGNC Official Full Name DPP3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51350 See related Ensembl:ENSG00000221844 AllianceGenome:HGNC:51350 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPP4, Official Symbol DPP4provided by HGNC Official Full Name dipeptidyl peptidase 4provided by HGNC Primary source HGNC:HGNC:3009 See related Ensembl:ENSG00000197635 MIM:102720; AllianceGenome:HGNC:3009 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 CD26; ADABP; ADCP2; DPPIV; TP103 Summary The DPP4 gene encodes dipeptidyl peptidase 4, which is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic type II transmembrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. Dipeptidyl peptidase 4 is highly involved in glucose and insulin metabolism, as well as in immune regulation. This protein was shown to be a functional receptor for Middle East respiratory syndrome coronavirus (MERS-CoV), and protein modeling suggests that it may play a similar role with SARS-CoV-2, the virus responsible for COVID-19. [provided by RefSeq, Apr 2020] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection. Expression Biased expression in small intestine (RPKM 70.7), placenta (RPKM 57.1) and 13 other tissues See more Orthologs mouse all
DPP6, Official Symbol DPP6provided by HGNC Official Full Name dipeptidyl peptidase like 6provided by HGNC Primary source HGNC:HGNC:3010 See related Ensembl:ENSG00000130226 MIM:126141; AllianceGenome:HGNC:3010 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 VF2; DPL1; DPPX; MRD33 Summary This gene encodes a single-pass type II membrane protein that is a member of the peptidase S9B family of serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Variations in this gene may be associated with susceptibility to amyotrophic lateral sclerosis and with idiopathic ventricular fibrillation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014] Expression Biased expression in brain (RPKM 22.2), endometrium (RPKM 11.9) and 5 other tissues See more Orthologs mouse all
DPP7, Official Symbol DPP7provided by HGNC Official Full Name dipeptidyl peptidase 7provided by HGNC Primary source HGNC:HGNC:14892 See related Ensembl:ENSG00000176978 MIM:610537; AllianceGenome:HGNC:14892 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 QPP; DPP2; DPPII Summary The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in spleen (RPKM 29.2), testis (RPKM 27.1) and 25 other tissues See more Orthologs mouse all
DPP8, Official Symbol DPP8provided by HGNC Official Full Name dipeptidyl peptidase 8provided by HGNC Primary source HGNC:HGNC:16490 See related Ensembl:ENSG00000074603 MIM:606819; AllianceGenome:HGNC:16490 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 DP8; DPRP1; DPRP-1; MST097; MSTP097; MSTP135; MSTP141 Summary This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 9.5), testis (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
DPP9, Official Symbol DPP9provided by HGNC Official Full Name dipeptidyl peptidase 9provided by HGNC Primary source HGNC:HGNC:18648 See related Ensembl:ENSG00000142002 MIM:608258; AllianceGenome:HGNC:18648 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 DP9; DPLP9; DPRP2; HATIS; DPP IX; DPRP-2; IMD111 Summary This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Ubiquitous expression in spleen (RPKM 7.8), appendix (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
DPP9-AS1, Official Symbol DPP9-AS1provided by HGNC Official Full Name DPP9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50706 See related Ensembl:ENSG00000205790 AllianceGenome:HGNC:50706 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 Ubiquitous expression in spleen (RPKM 2.5), bone marrow (RPKM 2.3) and 25 other tissues See more Orthologs all
DPPA2, Official Symbol DPPA2provided by HGNC Official Full Name developmental pluripotency associated 2provided by HGNC Primary source HGNC:HGNC:19197 See related Ensembl:ENSG00000163530 MIM:614445; AllianceGenome:HGNC:19197 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 CT100; PESCRG1; ECAT15-2 Summary Predicted to enable chromatin binding activity. Predicted to be involved in system development. Predicted to act upstream of or within several processes, including lung-associated mesenchyme development; positive regulation of stem cell proliferation; and regulation of histone methylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.2) See more Orthologs mouse all
DPPA2P1, Official Symbol DPPA2P1provided by HGNC Official Full Name developmental pluripotency associated 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:38448 See related Ensembl:ENSG00000223915 AllianceGenome:HGNC:38448 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPPA3, Official Symbol DPPA3provided by HGNC Official Full Name developmental pluripotency associated 3provided by HGNC Primary source HGNC:HGNC:19199 See related Ensembl:ENSG00000187569 MIM:608408; AllianceGenome:HGNC:19199 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 Pgc7; STELLA Summary This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
DPPA3P1, Official Symbol DPPA3P1provided by HGNC Official Full Name DPPA3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:32345 See related AllianceGenome:HGNC:32345 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPPA3P3, Official Symbol DPPA3P3provided by HGNC Official Full Name DPPA3 pseudogene 3provided by HGNC Primary source HGNC:HGNC:49062 See related Ensembl:ENSG00000270415 AllianceGenome:HGNC:49062 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPPA4, Official Symbol DPPA4provided by HGNC Official Full Name developmental pluripotency associated 4provided by HGNC Primary source HGNC:HGNC:19200 See related Ensembl:ENSG00000121570 MIM:614125; AllianceGenome:HGNC:19200 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 2410091M23Rik Summary This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] Expression Biased expression in testis (RPKM 2.8), bone marrow (RPKM 2.1) and 5 other tissues See more Orthologs mouse all
DPPA5, Official Symbol DPPA5provided by HGNC Official Full Name developmental pluripotency associated 5provided by HGNC Primary source HGNC:HGNC:19201 See related Ensembl:ENSG00000203909 MIM:611111; AllianceGenome:HGNC:19201 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 ESG1 Summary This gene encodes a protein that may function in the control of cell pluripotency and early embryogenesis. Expression of this gene is a specific marker for pluripotent stem cells. Pseudogenes of this gene are located on the short arm of chromosome 10 and the long arm of chromosomes 14 and 19. [provided by RefSeq, Dec 2010] Expression Biased expression in testis (RPKM 1.1), lung (RPKM 0.4) and 1 other tissue See more Orthologs mouse all
DPPA5P2, Official Symbol DPPA5P2provided by HGNC Official Full Name developmental pluripotency associated 5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:43754 See related Ensembl:ENSG00000259427 AllianceGenome:HGNC:43754 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPRX, Official Symbol DPRXprovided by HGNC Official Full Name divergent-paired related homeoboxprovided by HGNC Primary source HGNC:HGNC:32166 See related Ensembl:ENSG00000204595 MIM:611165; AllianceGenome:HGNC:32166 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 Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the DPRX homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
DPRXP3, Official Symbol DPRXP3provided by HGNC Official Full Name divergent-paired related homeobox pseudogene 3provided by HGNC Primary source HGNC:HGNC:32169 See related Ensembl:ENSG00000282308 AllianceGenome:HGNC:32169 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]
DPRXP5, Official Symbol DPRXP5provided by HGNC Official Full Name divergent-paired related homeobox pseudogene 5provided by HGNC Primary source HGNC:HGNC:32171 See related AllianceGenome:HGNC:32171 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]
DPRXP6, Official Symbol DPRXP6provided by HGNC Official Full Name divergent-paired related homeobox pseudogene 6provided by HGNC Primary source HGNC:HGNC:32172 See related Ensembl:ENSG00000270791 AllianceGenome:HGNC:32172 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the DPRX homeobox gene family. [provided by RefSeq, Jul 2008]
DPT, Official Symbol DPTprovided by HGNC Official Full Name dermatopontinprovided by HGNC Primary source HGNC:HGNC:3011 See related Ensembl:ENSG00000143196 MIM:125597; AllianceGenome:HGNC:3011 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 TRAMP Summary Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 269.7), heart (RPKM 73.0) and 14 other tissues See more Orthologs mouse all
DPY19L1, Official Symbol DPY19L1provided by HGNC Official Full Name dpy-19 like C-mannosyltransferase 1provided by HGNC Primary source HGNC:HGNC:22205 See related Ensembl:ENSG00000173852 MIM:613892; AllianceGenome:HGNC:22205 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 Summary Predicted to enable mannosyltransferase activity. Predicted to be involved in protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 12.8), brain (RPKM 12.6) and 24 other tissues See more Orthologs mouse all
DPY19L1P1, Official Symbol DPY19L1P1provided by HGNC Official Full Name DPY19L1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:22395 See related AllianceGenome:HGNC:22395 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in brain (RPKM 10.3), bone marrow (RPKM 6.5) and 24 other tissues See more
DPY19L2, Official Symbol DPY19L2provided by HGNC Official Full Name dpy-19 like 2provided by HGNC Primary source HGNC:HGNC:19414 See related Ensembl:ENSG00000177990 MIM:613893; AllianceGenome:HGNC:19414 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 SPGF9; SPATA34 Summary The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011] Expression Biased expression in testis (RPKM 14.7), heart (RPKM 3.9) and 10 other tissues See more Orthologs mouse all
DPY19L2P5, Official Symbol DPY19L2P5provided by HGNC Official Full Name DPY19L2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:51620 See related Ensembl:ENSG00000225100 AllianceGenome:HGNC:51620 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPY19L3, Official Symbol DPY19L3provided by HGNC Official Full Name dpy-19 like C-mannosyltransferase 3provided by HGNC Primary source HGNC:HGNC:27120 See related Ensembl:ENSG00000178904 MIM:613894; AllianceGenome:HGNC:27120 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 Summary Predicted to enable mannosyltransferase activity. Predicted to be involved in protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan. Predicted to be integral component of membrane. Predicted to be active in nuclear inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 5.7), prostate (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
DPY19L4, Official Symbol DPY19L4provided by HGNC Official Full Name dpy-19 like 4provided by HGNC Primary source HGNC:HGNC:27829 See related Ensembl:ENSG00000156162 MIM:613895; AllianceGenome:HGNC:27829 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 Summary Predicted to enable mannosyltransferase activity. Predicted to be involved in protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan. Predicted to be integral component of membrane. Predicted to be active in nuclear inner membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 10.0), ovary (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
DPY19L4P1, Official Symbol DPY19L4P1provided by HGNC Official Full Name DPY19L4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:53907 See related Ensembl:ENSG00000229663 AllianceGenome:HGNC:53907 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPY19L4P2, Official Symbol DPY19L4P2provided by HGNC Official Full Name DPY19L4 pseudogene 2provided by HGNC Primary source HGNC:HGNC:53908 See related Ensembl:ENSG00000231839 AllianceGenome:HGNC:53908 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DPY30, Official Symbol DPY30provided by HGNC Official Full Name dpy-30 histone methyltransferase complex regulatory subunitprovided by HGNC Primary source HGNC:HGNC:24590 See related Ensembl:ENSG00000162961 MIM:612032; AllianceGenome:HGNC:24590 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 Cps25; Saf19; HDPY-30 Summary This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in thyroid (RPKM 7.5), adrenal (RPKM 7.3) and 25 other tissues See more Orthologs mouse all
DPYD, Official Symbol DPYDprovided by HGNC Official Full Name dihydropyrimidine dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:3012 See related Ensembl:ENSG00000188641 MIM:612779; AllianceGenome:HGNC:3012 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 DHP; DPD; DYPD; DHPDHASE Summary The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Ubiquitous expression in gall bladder (RPKM 9.2), lung (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
DPYD-AS1, Official Symbol DPYD-AS1provided by HGNC Official Full Name DPYD antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40195 See related Ensembl:ENSG00000232878 AllianceGenome:HGNC:40195 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 Ubiquitous expression in gall bladder (RPKM 3.8), lung (RPKM 3.4) and 25 other tissues See more
DPYD-AS2, Official Symbol DPYD-AS2provided by HGNC Official Full Name DPYD antisense RNA 2provided by HGNC Primary source HGNC:HGNC:40196 See related Ensembl:ENSG00000235777 AllianceGenome:HGNC:40196 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
DPYD-IT1, Official Symbol DPYD-IT1provided by HGNC Official Full Name DPYD intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41326 See related AllianceGenome:HGNC:41326 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
DPYS, Official Symbol DPYSprovided by HGNC Official Full Name dihydropyrimidinaseprovided by HGNC Primary source HGNC:HGNC:3013 See related Ensembl:ENSG00000147647 MIM:613326; AllianceGenome:HGNC:3013 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 DHP; DHPase Summary Dihydropyrimidinase catalyzes the conversion of 5,6-dihydrouracil to 3-ureidopropionate in pyrimidine metabolism. Dihydropyrimidinase is expressed at a high level in liver and kidney as a major 2.5-kb transcript and a minor 3.8-kb transcript. Defects in the DPYS gene are linked to dihydropyrimidinuria. [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 34.3) and kidney (RPKM 29.7) See more Orthologs mouse all
DPYSL2, Official Symbol DPYSL2provided by HGNC Official Full Name dihydropyrimidinase like 2provided by HGNC Primary source HGNC:HGNC:3014 See related Ensembl:ENSG00000092964 MIM:602463; AllianceGenome:HGNC:3014 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 DRP2; N2A3; CRMP2; DRP-2; ULIP2; CRMP-2; DHPRP2; ULIP-2 Summary This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimer's disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011] Annotation information Note: DRP2 (Gene ID: 1821) and DPYSL2 (Gene ID: 1808) share the DRP2 symbol/alias in common. DRP2 is a widely used alternative name for dihydropyrimidinase like 2 (DPYSL2), which can be confused with the official symbol for dystrophin related protein 2 (DRP2). [06 Jul 2018] Expression Broad expression in brain (RPKM 146.0), lung (RPKM 48.2) and 15 other tissues See more Orthologs mouse all
DPYSL3, Official Symbol DPYSL3provided by HGNC Official Full Name dihydropyrimidinase like 3provided by HGNC Primary source HGNC:HGNC:3015 See related Ensembl:ENSG00000113657 MIM:601168; AllianceGenome:HGNC:3015 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 DRP3; ULIP; CRMP4; DRP-3; LCRMP; CRMP-4; ULIP-1 Summary Enables filamin binding activity. Predicted to be involved in several processes, including actin filament organization; regulation of plasma membrane bounded cell projection organization; and response to axon injury. Predicted to act upstream of or within nervous system development. Predicted to be located in several cellular components, including cell body; growth cone; and lamellipodium. Predicted to be part of filamentous actin. Predicted to be active in synapse. Predicted to colocalize with exocytic vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 51.8), prostate (RPKM 49.3) and 22 other tissues See more Orthologs mouse all
DPYSL4, Official Symbol DPYSL4provided by HGNC Official Full Name dihydropyrimidinase like 4provided by HGNC Primary source HGNC:HGNC:3016 See related Ensembl:ENSG00000151640 MIM:608407; AllianceGenome:HGNC:3016 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 CRMP3; DRP-4; ULIP4 Summary Enables filamin binding activity. Predicted to be involved in nervous system development. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 6.6), heart (RPKM 2.6) and 6 other tissues See more Orthologs mouse all
DPYSL5, Official Symbol DPYSL5provided by HGNC Official Full Name dihydropyrimidinase like 5provided by HGNC Primary source HGNC:HGNC:20637 See related Ensembl:ENSG00000157851 MIM:608383; AllianceGenome:HGNC:20637 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 CV2; CRAM; CRMP5; RTSC4; Ulip6; CRMP-5 Summary This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011] Expression Biased expression in brain (RPKM 10.7), testis (RPKM 2.0) and 1 other tissue See more Orthologs mouse all
DQX1, Official Symbol DQX1provided by HGNC Official Full Name DEAQ-box RNA dependent ATPase 1provided by HGNC Primary source HGNC:HGNC:20410 See related Ensembl:ENSG00000144045 AllianceGenome:HGNC:20410 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 Summary Predicted to enable RNA binding activity. Predicted to be involved in DNA duplex unwinding. Predicted to be part of spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 13.5), small intestine (RPKM 12.8) and 6 other tissues See more Orthologs mouse all
DR1, Official Symbol DR1provided by HGNC Official Full Name down-regulator of transcription 1provided by HGNC Primary source HGNC:HGNC:3017 See related Ensembl:ENSG00000117505 MIM:601482; AllianceGenome:HGNC:3017 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 NC2; NC2B; NCB2; NC2-BETA Summary This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 31.0), lymph node (RPKM 21.9) and 25 other tissues See more Orthologs mouse all
DRAIC, Official Symbol DRAICprovided by HGNC Official Full Name downregulated RNA in cancer, inhibitor of cell invasion and migrationprovided by HGNC Primary source HGNC:HGNC:27082 See related Ensembl:ENSG00000245750 MIM:616387; AllianceGenome:HGNC:27082 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 Biased expression in kidney (RPKM 4.9), prostate (RPKM 3.0) and 7 other tissues See more
DRAM1, Official Symbol DRAM1provided by HGNC Official Full Name DNA damage regulated autophagy modulator 1provided by HGNC Primary source HGNC:HGNC:25645 See related Ensembl:ENSG00000136048 MIM:610776; AllianceGenome:HGNC:25645 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 DRAM Summary This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008] Expression Broad expression in lung (RPKM 41.9), urinary bladder (RPKM 12.1) and 20 other tissues See more Orthologs mouse all
DRAM2, Official Symbol DRAM2provided by HGNC Official Full Name DNA damage regulated autophagy modulator 2provided by HGNC Primary source HGNC:HGNC:28769 See related Ensembl:ENSG00000156171 MIM:613360; AllianceGenome:HGNC:28769 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 CORD21; PRO180; TMEM77; WWFQ154 Summary The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017] Expression Ubiquitous expression in lymph node (RPKM 29.0), spleen (RPKM 26.6) and 25 other tissues See more Orthologs mouse all
DRAP1, Official Symbol DRAP1provided by HGNC Official Full Name DR1 associated protein 1provided by HGNC Primary source HGNC:HGNC:3019 See related Ensembl:ENSG00000175550 MIM:602289; AllianceGenome:HGNC:3019 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 NC2-alpha Summary Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 51.3), fat (RPKM 37.1) and 25 other tissues See more Orthologs mouse all
DRAXIN, Official Symbol DRAXINprovided by HGNC Official Full Name dorsal inhibitory axon guidance proteinprovided by HGNC Primary source HGNC:HGNC:25054 See related Ensembl:ENSG00000162490 MIM:612682; AllianceGenome:HGNC:25054 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 UNQ3119; neucrin; AGPA3119; C1orf187 Summary Predicted to be involved in negative regulation of canonical Wnt signaling pathway; negative regulation of neuron projection development; and nervous system development. Predicted to act upstream of or within negative regulation of axon extension and negative regulation of neuron apoptotic process. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
DRC1, Official Symbol DRC1provided by HGNC Official Full Name dynein regulatory complex subunit 1provided by HGNC Primary source HGNC:HGNC:24245 See related Ensembl:ENSG00000157856 MIM:615288; AllianceGenome:HGNC:24245 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 CILD21; SPGF80; C2orf39; CCDC164 Summary This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015] Expression Restricted expression toward testis (RPKM 14.3) See more Orthologs mouse all
DRC3, Official Symbol DRC3provided by HGNC Official Full Name dynein regulatory complex subunit 3provided by HGNC Primary source HGNC:HGNC:25384 See related Ensembl:ENSG00000171962 MIM:618758; AllianceGenome:HGNC:25384 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 LRRC48; CFAP134 Summary Located in axoneme. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues See more Orthologs mouse all
DRC7, Official Symbol DRC7provided by HGNC Official Full Name dynein regulatory complex subunit 7provided by HGNC Primary source HGNC:HGNC:25289 See related Ensembl:ENSG00000159625 MIM:618769; AllianceGenome:HGNC:25289 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 FAP50; CFAP50; CCDC135; C16orf50 Summary Predicted to be involved in flagellated sperm motility. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 24.8) See more Orthologs mouse all
DRD1, Official Symbol DRD1provided by HGNC Official Full Name dopamine receptor D1provided by HGNC Primary source HGNC:HGNC:3020 See related Ensembl:ENSG00000184845 MIM:126449; AllianceGenome:HGNC:3020 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 D1R; DADR; DRD1A Summary This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.4), placenta (RPKM 0.8) and 9 other tissues See more Orthologs mouse all
DRD2, Official Symbol DRD2provided by HGNC Official Full Name dopamine receptor D2provided by HGNC Primary source HGNC:HGNC:3023 See related Ensembl:ENSG00000149295 MIM:126450; AllianceGenome:HGNC:3023 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 D2R; D2DR Summary This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008] Annotation information Note: A frequently studied SNP, known as TaqI DRD2 (rs1800497), was originally associated with the DRD2 gene (GeneID 1813) but was later found to be located within exon 8 of the adjacent gene, ANKK1 (GeneID 255239). The location of rs1800497 is not always specified within publications. Publications may be associated with either locus or with both loci in order to point out the relationship of rs1800497 to both loci. [13 Feb 2013] Expression Biased expression in adrenal (RPKM 4.1), endometrium (RPKM 0.7) and 3 other tissues See more Orthologs mouse all
DRD3, Official Symbol DRD3provided by HGNC Official Full Name dopamine receptor D3provided by HGNC Primary source HGNC:HGNC:3024 See related Ensembl:ENSG00000151577 MIM:126451; AllianceGenome:HGNC:3024 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 D3DR; ETM1; FET1 Summary This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all