psui3905/ncbi_genes_summary huggingface dataset:
DRD4, Official Symbol DRD4provided by HGNC Official Full Name dopamine receptor D4provided by HGNC Primary source HGNC:HGNC:3025 See related Ensembl:ENSG00000069696 MIM:126452; AllianceGenome:HGNC:3025 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 D4DR Summary This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
DRD5, Official Symbol DRD5provided by HGNC Official Full Name dopamine receptor D5provided by HGNC Primary source HGNC:HGNC:3026 See related Ensembl:ENSG00000169676 MIM:126453; AllianceGenome:HGNC:3026 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 DBDR; DRD1B; DRD1L2 Summary This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008] Orthologs mouse all
DRG1, Official Symbol DRG1provided by HGNC Official Full Name developmentally regulated GTP binding protein 1provided by HGNC Primary source HGNC:HGNC:3029 See related Ensembl:ENSG00000185721 MIM:603952; AllianceGenome:HGNC:3029 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 NEDD3 Summary Enables several functions, including GTPase activity; identical protein binding activity; and potassium ion binding activity. Involved in positive regulation of microtubule polymerization and regulation of mitotic spindle assembly. Located in cytosol and nuclear body. Part of polysome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 112.9), thyroid (RPKM 23.8) and 24 other tissues See more Orthologs mouse all
DRG1P1, Official Symbol DRG1P1provided by HGNC Official Full Name DRG1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54701 See related AllianceGenome:HGNC:54701 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DRG2, Official Symbol DRG2provided by HGNC Official Full Name developmentally regulated GTP binding protein 2provided by HGNC Primary source HGNC:HGNC:3030 See related Ensembl:ENSG00000108591 MIM:602986; AllianceGenome:HGNC:3030 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 GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jan 2012] Expression Ubiquitous expression in ovary (RPKM 11.9), prostate (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
DRGX, Official Symbol DRGXprovided by HGNC Official Full Name dorsal root ganglia homeoboxprovided by HGNC Primary source HGNC:HGNC:21536 See related Ensembl:ENSG00000165606 MIM:606701; AllianceGenome:HGNC:21536 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 DRG11; PRRXL1 Summary Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including detection of temperature stimulus; nervous system development; and sensory perception of mechanical stimulus. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 3.2) and skin (RPKM 0.2) See more Orthologs mouse all
DRICH1, Official Symbol DRICH1provided by HGNC Official Full Name aspartate rich 1provided by HGNC Primary source HGNC:HGNC:28031 See related Ensembl:ENSG00000189269 AllianceGenome:HGNC:28031 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 C22orf43; KB-208E9.1 Expression Biased expression in testis (RPKM 7.4) and kidney (RPKM 0.4) See more Orthologs all
DROSHA, Official Symbol DROSHAprovided by HGNC Official Full Name drosha ribonuclease IIIprovided by HGNC Primary source HGNC:HGNC:17904 See related Ensembl:ENSG00000113360 MIM:608828; AllianceGenome:HGNC:17904 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 RN3; ETOHI2; RNASEN; RANSE3L; RNASE3L; HSA242976 Summary This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in brain (RPKM 9.5), ovary (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
DRP2, Official Symbol DRP2provided by HGNC Official Full Name dystrophin related protein 2provided by HGNC Primary source HGNC:HGNC:3032 See related Ensembl:ENSG00000102385 MIM:300052; AllianceGenome:HGNC:3032 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 DRP-2 Summary Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] 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 Biased expression in brain (RPKM 5.3), ovary (RPKM 0.8) and 3 other tissues See more Orthologs mouse all
DSC1, Official Symbol DSC1provided by HGNC Official Full Name desmocollin 1provided by HGNC Primary source HGNC:HGNC:3035 See related Ensembl:ENSG00000134765 MIM:125643; AllianceGenome:HGNC:3035 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 CDHF1; DG2/DG3 Summary The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015] Expression Restricted expression toward skin (RPKM 118.5) See more Orthologs mouse all
DSC2, Official Symbol DSC2provided by HGNC Official Full Name desmocollin 2provided by HGNC Primary source HGNC:HGNC:3036 See related Ensembl:ENSG00000134755 MIM:125645; AllianceGenome:HGNC:3036 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 DG2; DSC3; CDHF2; ARVD11; DGII/III Summary This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] Expression Biased expression in esophagus (RPKM 95.9), colon (RPKM 34.9) and 8 other tissues See more Orthologs mouse all
DSC3, Official Symbol DSC3provided by HGNC Official Full Name desmocollin 3provided by HGNC Primary source HGNC:HGNC:3037 See related Ensembl:ENSG00000134762 MIM:600271; AllianceGenome:HGNC:3037 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 DSC; DSC1; DSC2; DSC4; CDHF3; HT-CP Summary The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] Expression Biased expression in skin (RPKM 186.5) and esophagus (RPKM 47.4) See more Orthologs mouse all
DSCAM, Official Symbol DSCAMprovided by HGNC Official Full Name DS cell adhesion moleculeprovided by HGNC Primary source HGNC:HGNC:3039 See related Ensembl:ENSG00000171587 MIM:602523; AllianceGenome:HGNC:3039 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 CHD2; CHD2-42; CHD2-52 Summary This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] Expression Biased expression in brain (RPKM 4.3), spleen (RPKM 0.3) and 2 other tissues See more Orthologs mouse all
DSCAM-AS1, Official Symbol DSCAM-AS1provided by HGNC Official Full Name DSCAM antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40197 See related Ensembl:ENSG00000235123 AllianceGenome:HGNC:40197 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 M41 Expression Low expression observed in reference dataset See more
DSCAM-IT1, Official Symbol DSCAM-IT1provided by HGNC Official Full Name DSCAM intronic transcript 1provided by HGNC Primary source HGNC:HGNC:41327 See related Ensembl:ENSG00000233756 AllianceGenome:HGNC:41327 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as zag4 Expression Low expression observed in reference dataset See more
DSCAML1, Official Symbol DSCAML1provided by HGNC Official Full Name DS cell adhesion molecule like 1provided by HGNC Primary source HGNC:HGNC:14656 See related Ensembl:ENSG00000177103 MIM:611782; AllianceGenome:HGNC:14656 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 DSCAM2 Summary The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016] Expression Biased expression in brain (RPKM 3.3), ovary (RPKM 1.2) and 9 other tissues See more Orthologs mouse all
DSCAS, Official Symbol DSCASprovided by HGNC Official Full Name DSC1/DSC2 antisense RNAprovided by HGNC Primary source HGNC:HGNC:51116 See related AllianceGenome:HGNC:51116 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 skin (RPKM 25.6) See more
DSCC1, Official Symbol DSCC1provided by HGNC Official Full Name DNA replication and sister chromatid cohesion 1provided by HGNC Primary source HGNC:HGNC:24453 See related Ensembl:ENSG00000136982 MIM:613203; AllianceGenome:HGNC:24453 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 DCC1 Summary CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009] Expression Ubiquitous expression in lymph node (RPKM 3.7), appendix (RPKM 2.3) and 24 other tissues See more Orthologs mouse all
DSCR10, Official Symbol DSCR10provided by HGNC Official Full Name Down syndrome critical region 10provided by HGNC Primary source HGNC:HGNC:16302 See related Ensembl:ENSG00000233316 AllianceGenome:HGNC:16302 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
DSCR4, Official Symbol DSCR4provided by HGNC Official Full Name Down syndrome critical region 4provided by HGNC Primary source HGNC:HGNC:3045 See related Ensembl:ENSG00000184029 MIM:604829; AllianceGenome:HGNC:3045 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 DCRB; DSCRB Summary The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus. [provided by RefSeq, Jan 2015] Expression Low expression observed in reference dataset See more
DSCR8, Official Symbol DSCR8provided by HGNC Official Full Name Down syndrome critical region 8provided by HGNC Primary source HGNC:HGNC:16707 See related Ensembl:ENSG00000198054 MIM:613396; AllianceGenome:HGNC:16707 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 MMA1; MMA-1; MTAG2; MMA-1a; MMA-1b; CT25.1a; CT25.1b; C21orf65 Expression Restricted expression toward testis (RPKM 8.9) See more
DSCR9, Official Symbol DSCR9provided by HGNC Official Full Name Down syndrome critical region 9provided by HGNC Primary source HGNC:HGNC:16301 See related Ensembl:ENSG00000230366 AllianceGenome:HGNC:16301 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 NCRNA00038 Expression Biased expression in testis (RPKM 2.8) and brain (RPKM 0.2) See more
DSE, Official Symbol DSEprovided by HGNC Official Full Name dermatan sulfate epimeraseprovided by HGNC Primary source HGNC:HGNC:21144 See related Ensembl:ENSG00000111817 MIM:605942; AllianceGenome:HGNC:21144 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 DSEP; DSEPI; SART2; EDSMC2; SART-2; DS-epi1 Summary The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in appendix (RPKM 7.0), fat (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
DSEL, Official Symbol DSELprovided by HGNC Official Full Name dermatan sulfate epimerase likeprovided by HGNC Primary source HGNC:HGNC:18144 See related Ensembl:ENSG00000171451 MIM:611125; AllianceGenome:HGNC:18144 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 C18orf4; DE-epi2 Summary Predicted to enable chondroitin-glucuronate 5-epimerase activity. Predicted to be involved in chondroitin sulfate metabolic process and dermatan sulfate metabolic process. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 4.8), kidney (RPKM 3.2) and 22 other tissues See more Orthologs mouse all
DSEL-AS1, Official Symbol DSEL-AS1provided by HGNC Official Full Name DSEL antisense RNA 1provided by HGNC Primary source HGNC:HGNC:55325 See related Ensembl:ENSG00000265533 AllianceGenome:HGNC:55325 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
DSG1, Official Symbol DSG1provided by HGNC Official Full Name desmoglein 1provided by HGNC Primary source HGNC:HGNC:3048 See related Ensembl:ENSG00000134760 MIM:125670; AllianceGenome:HGNC:3048 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 DG1; DSG; CDHF4; EPKHE; PPKS1; SPPK1; EPKHIA Summary This gene encodes a member of the desmoglein protein subfamily. Desmogleins, along with desmocollins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmoglein family members on chromosome 18. The encoded protein has been identified as a target of auto-antibodies in the autoimmune skin blistering disease pemphigus foliaceus. Disruption of this gene has also been associated with the skin diseases palmoplantar keratoderma and erythroderma. [provided by RefSeq, Feb 2015] Expression Restricted expression toward skin (RPKM 314.6) See more Orthologs all
DSG1-AS1, Official Symbol DSG1-AS1provided by HGNC Official Full Name DSG1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51115 See related Ensembl:ENSG00000266729 AllianceGenome:HGNC:51115 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 skin (RPKM 121.8) See more
DSG2, Official Symbol DSG2provided by HGNC Official Full Name desmoglein 2provided by HGNC Primary source HGNC:HGNC:3049 See related Ensembl:ENSG00000046604 MIM:125671; AllianceGenome:HGNC:3049 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 HDGC; CDHF5 Summary This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016] Expression Broad expression in colon (RPKM 71.0), small intestine (RPKM 46.2) and 18 other tissues See more Orthologs mouse all
DSG2-AS1, Official Symbol DSG2-AS1provided by HGNC Official Full Name DSG2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51311 See related Ensembl:ENSG00000264859 AllianceGenome:HGNC:51311 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 Broad expression in colon (RPKM 9.2), small intestine (RPKM 5.3) and 19 other tissues See more
DSG3, Official Symbol DSG3provided by HGNC Official Full Name desmoglein 3provided by HGNC Primary source HGNC:HGNC:3050 See related Ensembl:ENSG00000134757 MIM:169615; AllianceGenome:HGNC:3050 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 PVA; ABOLM; CDHF6 Summary This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. The encoded protein has been identified as the autoantigen of the autoimmune blistering disease pemphigus vulgaris. [provided by RefSeq, Jan 2016] Expression Restricted expression toward esophagus (RPKM 200.1) See more Orthologs mouse all
DSG4, Official Symbol DSG4provided by HGNC Official Full Name desmoglein 4provided by HGNC Primary source HGNC:HGNC:21307 See related Ensembl:ENSG00000175065 MIM:607892; AllianceGenome:HGNC:21307 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 LAH; HYPT6; CDGF13; CDHF13 Summary This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
DSN1, Official Symbol DSN1provided by HGNC Official Full Name DSN1 component of MIS12 kinetochore complexprovided by HGNC Primary source HGNC:HGNC:16165 See related Ensembl:ENSG00000149636 MIM:609175; AllianceGenome:HGNC:16165 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 KNL3; MIS13; hKNL-3; C20orf172; dJ469A13.2 Summary This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009] Expression Broad expression in testis (RPKM 11.7), lymph node (RPKM 6.7) and 24 other tissues See more Orthologs mouse all
DSP, Official Symbol DSPprovided by HGNC Official Full Name desmoplakinprovided by HGNC Primary source HGNC:HGNC:3052 See related Ensembl:ENSG00000096696 MIM:125647; AllianceGenome:HGNC:3052 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 DP; DCWHKTA Summary This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] Expression Biased expression in skin (RPKM 438.1), esophagus (RPKM 191.0) and 7 other tissues See more Orthologs mouse all
DSPP, Official Symbol DSPPprovided by HGNC Official Full Name dentin sialophosphoproteinprovided by HGNC Primary source HGNC:HGNC:3054 See related Ensembl:ENSG00000152591 MIM:125485; AllianceGenome:HGNC:3054 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 DPP; DSP; DGI1; DMP3; DFNA39 Summary This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extracellular matrix of the tooth, dentin sialoprotein and dentin phosphoprotein. These two protein products may play distinct but related roles in dentin mineralization. Mutations in this gene are associated with dentinogenesis imperfecta and dentin dysplasia. This gene is present in a gene cluster on chromosome 4. Allelic differences due to repeat polymorphisms have been found for this gene. [provided by RefSeq, Jan 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
DST, Official Symbol DSTprovided by HGNC Official Full Name dystoninprovided by HGNC Primary source HGNC:HGNC:1090 See related Ensembl:ENSG00000151914 MIM:113810; AllianceGenome:HGNC:1090 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 DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101 Summary This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010] Expression Ubiquitous expression in skin (RPKM 22.2), brain (RPKM 12.5) and 23 other tissues See more Orthologs mouse all
DST-AS1, Official Symbol DST-AS1provided by HGNC Official Full Name DST antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40098 See related AllianceGenome:HGNC:40098 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
DSTN, Official Symbol DSTNprovided by HGNC Official Full Name destrin, actin depolymerizing factorprovided by HGNC Primary source HGNC:HGNC:15750 See related Ensembl:ENSG00000125868 MIM:609114; AllianceGenome:HGNC:15750 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 ADF; ACTDP; HEL32; bA462D18.2 Summary The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 293.6), esophagus (RPKM 273.4) and 25 other tissues See more Orthologs mouse all
DSTNP2, Official Symbol DSTNP2provided by HGNC Official Full Name DSTN pseudogene 2provided by HGNC Primary source HGNC:HGNC:34546 See related Ensembl:ENSG00000290712 AllianceGenome:HGNC:34546 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DSTNP3, Official Symbol DSTNP3provided by HGNC Official Full Name DSTN pseudogene 3provided by HGNC Primary source HGNC:HGNC:34547 See related Ensembl:ENSG00000253833 AllianceGenome:HGNC:34547 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DSTNP5, Official Symbol DSTNP5provided by HGNC Official Full Name DSTN pseudogene 5provided by HGNC Primary source HGNC:HGNC:44549 See related AllianceGenome:HGNC:44549 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DSTYK, Official Symbol DSTYKprovided by HGNC Official Full Name dual serine/threonine and tyrosine protein kinaseprovided by HGNC Primary source HGNC:HGNC:29043 See related Ensembl:ENSG00000133059 MIM:612666; AllianceGenome:HGNC:29043 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 RIP5; RIPK5; SPG23; CAKUT1; RHDNS1; DustyPK; HDCMD38P Summary This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in brain (RPKM 8.1), bone marrow (RPKM 6.5) and 25 other tissues See more Orthologs mouse all
DTD1, Official Symbol DTD1provided by HGNC Official Full Name D-aminoacyl-tRNA deacylase 1provided by HGNC Primary source HGNC:HGNC:16219 See related Ensembl:ENSG00000125821 MIM:610996; AllianceGenome:HGNC:16219 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 DTD; DUEB; DUE-B; HARS2; pqn-68; C20orf88 Summary The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in thyroid (RPKM 7.0), brain (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
DTD1-AS1, Official Symbol DTD1-AS1provided by HGNC Official Full Name DTD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40762 See related Ensembl:ENSG00000233993 AllianceGenome:HGNC:40762 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
DTD2, Official Symbol DTD2provided by HGNC Official Full Name D-aminoacyl-tRNA deacylase 2provided by HGNC Primary source HGNC:HGNC:20277 See related Ensembl:ENSG00000129480 AllianceGenome:HGNC:20277 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 ATD; C14orf126 Summary Enables Ala-tRNA(Thr) hydrolase activity. Involved in aminoacyl-tRNA metabolism involved in translational fidelity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 6.7), brain (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
DTHD1, Official Symbol DTHD1provided by HGNC Official Full Name death domain containing 1provided by HGNC Primary source HGNC:HGNC:37261 See related Ensembl:ENSG00000197057 MIM:616979; AllianceGenome:HGNC:37261 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 protein which contains a death domain. Death domain-containing proteins function in signaling pathways and formation of signaling complexes, as well as the apoptosis pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] Expression Biased expression in lung (RPKM 2.2), lymph node (RPKM 1.8) and 11 other tissues See more Orthologs mouse all
DTL, Official Symbol DTLprovided by HGNC Official Full Name denticleless E3 ubiquitin protein ligase homologprovided by HGNC Primary source HGNC:HGNC:30288 See related Ensembl:ENSG00000143476 MIM:610617; AllianceGenome:HGNC:30288 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 CDT2; RAMP; DCAF2; L2DTL Summary Contributes to ubiquitin-protein transferase activity. Involved in several processes, including protein ubiquitination; regulation of G2/M transition of mitotic cell cycle; and translesion synthesis. Located in centrosome; cytosol; and nuclear lumen. Part of Cul4A-RING E3 ubiquitin ligase complex and Cul4B-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 9.8), bone marrow (RPKM 8.4) and 15 other tissues See more Orthologs mouse all
DTNA, Official Symbol DTNAprovided by HGNC Official Full Name dystrobrevin alphaprovided by HGNC Primary source HGNC:HGNC:3057 See related Ensembl:ENSG00000134769 MIM:601239; AllianceGenome:HGNC:3057 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 DTN; DRP3; DTN-A; LVNC1; D18S892E Summary The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 27.5), heart (RPKM 10.7) and 10 other tissues See more Orthologs mouse all
DTNB, Official Symbol DTNBprovided by HGNC Official Full Name dystrobrevin betaprovided by HGNC Primary source HGNC:HGNC:3058 See related Ensembl:ENSG00000138101 MIM:602415; AllianceGenome:HGNC:3058 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 dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in salivary gland (RPKM 3.0), brain (RPKM 2.3) and 25 other tissues See more Orthologs mouse all
DTNBP1, Official Symbol DTNBP1provided by HGNC Official Full Name dystrobrevin binding protein 1provided by HGNC Primary source HGNC:HGNC:17328 See related Ensembl:ENSG00000047579 MIM:607145; AllianceGenome:HGNC:17328 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 SDY; DBND; HPS7; My031; BLOC1S8 Summary This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 6.2), spleen (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
DTWD1, Official Symbol DTWD1provided by HGNC Official Full Name DTW domain containing 1provided by HGNC Primary source HGNC:HGNC:30926 See related Ensembl:ENSG00000104047 AllianceGenome:HGNC:30926 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 MDS009 Summary Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 2.7), gall bladder (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
DTWD2, Official Symbol DTWD2provided by HGNC Official Full Name DTW domain containing 2provided by HGNC Primary source HGNC:HGNC:19334 See related Ensembl:ENSG00000169570 AllianceGenome:HGNC:19334 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 Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 4.3), kidney (RPKM 2.3) and 24 other tissues See more Orthologs mouse all
DTX1, Official Symbol DTX1provided by HGNC Official Full Name deltex E3 ubiquitin ligase 1provided by HGNC Primary source HGNC:HGNC:3060 See related Ensembl:ENSG00000135144 MIM:602582; AllianceGenome:HGNC:3060 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 hDx-1; RNF140 Summary Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 13.1), spleen (RPKM 9.7) and 18 other tissues See more Orthologs mouse all
DTX2, Official Symbol DTX2provided by HGNC Official Full Name deltex E3 ubiquitin ligase 2provided by HGNC Primary source HGNC:HGNC:15973 See related Ensembl:ENSG00000091073 MIM:613141; AllianceGenome:HGNC:15973 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 RNF58 Summary DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] Expression Broad expression in esophagus (RPKM 8.4), testis (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
DTX2P1-UPK3BP1-PMS2P11, Official Symbol DTX2P1-UPK3BP1-PMS2P11provided by HGNC Official Full Name DTX2P1-UPK3BP1-PMS2P11 readthrough, transcribed pseudogeneprovided by HGNC Primary source HGNC:HGNC:42360 See related Ensembl:ENSG00000265479 AllianceGenome:HGNC:42360 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PMS2L11 Summary This locus represents naturally-occurring readthrough transcription spanning multiple pseudogenes: DTX2P1 (DTX2 pseudogene 1), UPK3BP1 (uroplakin 3B pseudogene 1), PMS2P11 (PMS1 homolog 2, mismatch repair system component pseudogene 11). Some transcripts may also extend to PMS2P9 (PMS1 homolog 2, mismatch repair system component pseudogene 9). The readthrough transcripts likely do not encode functional proteins. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in testis (RPKM 9.8), skin (RPKM 7.6) and 25 other tissues See more
DTX3, Official Symbol DTX3provided by HGNC Official Full Name deltex E3 ubiquitin ligase 3provided by HGNC Primary source HGNC:HGNC:24457 See related Ensembl:ENSG00000178498 MIM:613142; AllianceGenome:HGNC:24457 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 RNF154; deltex3 Summary DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009] Expression Ubiquitous expression in brain (RPKM 21.6), endometrium (RPKM 16.7) and 24 other tissues See more Orthologs mouse all