psui3905/ncbi_genes_summary huggingface dataset:
DAOA, Official Symbol DAOAprovided by HGNC Official Full Name D-amino acid oxidase activatorprovided by HGNC Primary source HGNC:HGNC:21191 See related Ensembl:ENSG00000182346 MIM:607408; AllianceGenome:HGNC:21191 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 LG72; SG72 Summary This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011] Orthologs all
DAOA-AS1, Official Symbol DAOA-AS1provided by HGNC Official Full Name DAOA antisense RNA 1provided by HGNC Primary source HGNC:HGNC:30243 See related Ensembl:ENSG00000232307 MIM:607415; AllianceGenome:HGNC:30243 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 G30; DAOAAS; DAOA-AS Expression Low expression observed in reference dataset See more
DAP, Official Symbol DAPprovided by HGNC Official Full Name death associated proteinprovided by HGNC Primary source HGNC:HGNC:2672 See related Ensembl:ENSG00000112977 MIM:600954; AllianceGenome:HGNC:2672 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 DAP1 Summary This gene encodes a basic, proline-rich, 15-kD protein. The protein acts as a positive mediator of programmed cell death that is induced by interferon-gamma. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in thyroid (RPKM 62.5), urinary bladder (RPKM 56.2) and 25 other tissues See more Orthologs mouse all
DAP-DT, Official Symbol DAP-DTprovided by HGNC Official Full Name DAP divergent transcriptprovided by HGNC Primary source HGNC:HGNC:55214 See related AllianceGenome:HGNC:55214 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 1.6), thyroid (RPKM 0.1) and 2 other tissues See more
DAP3, Official Symbol DAP3provided by HGNC Official Full Name death associated protein 3provided by HGNC Primary source HGNC:HGNC:2673 See related Ensembl:ENSG00000132676 MIM:602074; AllianceGenome:HGNC:2673 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 mS29; DAP-3; S29mt; MRPS29; MRP-S29; bMRP-10 Summary Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in lymph node (RPKM 26.0), appendix (RPKM 24.7) and 25 other tissues See more Orthologs mouse all
DAP3P2, Official Symbol DAP3P2provided by HGNC Official Full Name death associated protein 3 pseudogene 2provided by HGNC Primary source HGNC:HGNC:29762 See related AllianceGenome:HGNC:29762 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MRPS29P2
DAPK1, Official Symbol DAPK1provided by HGNC Official Full Name death associated protein kinase 1provided by HGNC Primary source HGNC:HGNC:2674 See related Ensembl:ENSG00000196730 MIM:600831; AllianceGenome:HGNC:2674 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 DAPK; ROCO3 Summary Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in lung (RPKM 19.2), ovary (RPKM 16.6) and 25 other tissues See more Orthologs mouse all
DAPK1-IT1, Official Symbol DAPK1-IT1provided by HGNC Official Full Name DAPK1 intronic transcript 1provided by HGNC Primary source HGNC:HGNC:43591 See related Ensembl:ENSG00000236709 AllianceGenome:HGNC:43591 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DAPK2, Official Symbol DAPK2provided by HGNC Official Full Name death associated protein kinase 2provided by HGNC Primary source HGNC:HGNC:2675 See related Ensembl:ENSG00000035664 MIM:616567; AllianceGenome:HGNC:2675 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 DRP1; DRP-1 Summary This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 7.0), lung (RPKM 4.4) and 18 other tissues See more Orthologs mouse all
DAPK3, Official Symbol DAPK3provided by HGNC Official Full Name death associated protein kinase 3provided by HGNC Primary source HGNC:HGNC:2676 See related Ensembl:ENSG00000167657 MIM:603289; AllianceGenome:HGNC:2676 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 DLK; ZIP; ZIPK Summary Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells. These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 16.5), prostate (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
DAPL1, Official Symbol DAPL1provided by HGNC Official Full Name death associated protein like 1provided by HGNC Primary source HGNC:HGNC:21490 See related Ensembl:ENSG00000163331 AllianceGenome:HGNC:21490 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 death domain binding activity. Predicted to be involved in apoptotic signaling pathway; cellular response to amino acid starvation; and negative regulation of autophagy. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 59.4), skin (RPKM 46.5) and 3 other tissues See more Orthologs mouse all
DAPP1, Official Symbol DAPP1provided by HGNC Official Full Name dual adaptor of phosphotyrosine and 3-phosphoinositides 1provided by HGNC Primary source HGNC:HGNC:16500 See related Ensembl:ENSG00000070190 MIM:605768; AllianceGenome:HGNC:16500 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 BAM32 Summary Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Predicted to be involved in signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 16.8), appendix (RPKM 14.4) and 15 other tissues See more Orthologs mouse all
DARS1, Official Symbol DARS1provided by HGNC Official Full Name aspartyl-tRNA synthetase 1provided by HGNC Primary source HGNC:HGNC:2678 See related Ensembl:ENSG00000115866 MIM:603084; AllianceGenome:HGNC:2678 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 DARS; HBSL; aspRS Summary This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Ubiquitous expression in thyroid (RPKM 24.7), lymph node (RPKM 20.9) and 25 other tissues See more Orthologs mouse all
DARS2, Official Symbol DARS2provided by HGNC Official Full Name aspartyl-tRNA synthetase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:25538 See related Ensembl:ENSG00000117593 MIM:610956; AllianceGenome:HGNC:25538 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 LBSL; ASPRS; mtAspRS; MT-ASPRS Summary The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009] Expression Ubiquitous expression in kidney (RPKM 7.7), colon (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
DAW1, Official Symbol DAW1provided by HGNC Official Full Name dynein assembly factor with WD repeats 1provided by HGNC Primary source HGNC:HGNC:26383 See related Ensembl:ENSG00000123977 MIM:620279; AllianceGenome:HGNC:26383 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 ODA16; WDR69; DNAAF18 Summary Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and outer dynein arm assembly. Predicted to be located in cilium and extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 20.0) See more Orthologs mouse all
DAXX, Official Symbol DAXXprovided by HGNC Official Full Name death domain associated proteinprovided by HGNC Primary source HGNC:HGNC:2681 See related Ensembl:ENSG00000204209 MIM:603186; AllianceGenome:HGNC:2681 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 DAP6; EAP1; BING2; SMIM40 Summary This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in testis (RPKM 26.2), lymph node (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
DAZ1, Official Symbol DAZ1provided by HGNC Official Full Name deleted in azoospermia 1provided by HGNC Primary source HGNC:HGNC:2682 See related Ensembl:ENSG00000188120 MIM:400003; AllianceGenome:HGNC:2682 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 DAZ; SPGY Summary This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains three copies of the 10.8 kb repeat. However, no transcripts containing three copies of the RRM domain have been described; thus the RefSeq for this gene contains only two RRM domains. [provided by RefSeq, Jul 2008] Expression Biased expression in stomach (RPKM 43.6) and testis (RPKM 11.0) See more
DAZ2, Official Symbol DAZ2provided by HGNC Official Full Name deleted in azoospermia 2provided by HGNC Primary source HGNC:HGNC:15964 See related Ensembl:ENSG00000205944 MIM:400026; AllianceGenome:HGNC:15964 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 pDP1678 Summary This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
DAZ3, Official Symbol DAZ3provided by HGNC Official Full Name deleted in azoospermia 3provided by HGNC Primary source HGNC:HGNC:15965 See related Ensembl:ENSG00000187191 MIM:400027; AllianceGenome:HGNC:15965 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 pDP1679 Summary This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains one copy of the 10.8 kb repeat. [provided by RefSeq, Jul 2008] Orthologs all
DAZ4, Official Symbol DAZ4provided by HGNC Official Full Name deleted in azoospermia 4provided by HGNC Primary source HGNC:HGNC:15966 See related Ensembl:ENSG00000205916 MIM:400048; AllianceGenome:HGNC:15966 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 pDP1680; pDP1681 Summary This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important for spermatogenesis. Four copies of this gene are found on chromosome Y within palindromic duplications; one pair of genes is part of the P2 palindrome and the second pair is part of the P1 palindrome. Each gene contains a 2.4 kb repeat including a 72-bp exon, called the DAZ repeat; the number of DAZ repeats is variable and there are several variations in the sequence of the DAZ repeat. Each copy of the gene also contains a 10.8 kb region that may be amplified; this region includes five exons that encode an RNA recognition motif (RRM) domain. This gene contains two copies of the 10.8 kb repeat. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2011] Expression Biased expression in stomach (RPKM 48.9) and testis (RPKM 10.4) See more
DAZAP1, Official Symbol DAZAP1provided by HGNC Official Full Name DAZ associated protein 1provided by HGNC Primary source HGNC:HGNC:2683 See related Ensembl:ENSG00000071626 MIM:607430; AllianceGenome:HGNC:2683 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 In mammals, the Y chromosome directs the development of the testes and plays an important role in spermatogenesis. A high percentage of infertile men have deletions that map to regions of the Y chromosome. The DAZ (deleted in azoospermia) gene cluster maps to the AZFc region of the Y chromosome and is deleted in many azoospermic and severely oligospermic men. It is thought that the DAZ gene cluster arose from the transposition, amplification, and pruning of the ancestral autosomal gene DAZL also involved in germ cell development and gametogenesis. This gene encodes a RNA-binding protein with two RNP motifs that was originally identified by its interaction with the infertility factors DAZ and DAZL. Two isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 19.6), appendix (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
DAZAP2, Official Symbol DAZAP2provided by HGNC Official Full Name DAZ associated protein 2provided by HGNC Primary source HGNC:HGNC:2684 See related Ensembl:ENSG00000183283 MIM:607431; AllianceGenome:HGNC:2684 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 PRTB Summary This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Ubiquitous expression in bone marrow (RPKM 168.5), thyroid (RPKM 98.1) and 25 other tissues See more Orthologs mouse all
DAZL, Official Symbol DAZLprovided by HGNC Official Full Name deleted in azoospermia likeprovided by HGNC Primary source HGNC:HGNC:2685 See related Ensembl:ENSG00000092345 MIM:601486; AllianceGenome:HGNC:2685 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 DAZH; DAZL1; DAZLA; SPGYLA Summary The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Expression Restricted expression toward testis (RPKM 49.0) See more Orthologs mouse all
DBET, Official Symbol DBETprovided by HGNC Official Full Name D4Z4 binding element transcriptprovided by HGNC Primary source HGNC:HGNC:43904 See related Ensembl:ENSG00000281591 MIM:614865; AllianceGenome:HGNC:43904 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 DBE-T; DUX4L30
DBF4, Official Symbol DBF4provided by HGNC Official Full Name DBF4 zinc fingerprovided by HGNC Primary source HGNC:HGNC:17364 See related Ensembl:ENSG00000006634 MIM:604281; AllianceGenome:HGNC:17364 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 ASK; CHIF; DBF4A; ZDBF1 Summary Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in positive regulation of nuclear cell cycle DNA replication and regulation of cell cycle phase transition. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 30.3), bone marrow (RPKM 10.3) and 9 other tissues See more Orthologs mouse all
DBF4B, Official Symbol DBF4Bprovided by HGNC Official Full Name DBF4 zinc finger Bprovided by HGNC Primary source HGNC:HGNC:17883 See related Ensembl:ENSG00000161692 MIM:611661; AllianceGenome:HGNC:17883 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 DRF1; ASKL1; CHIFB; ZDBF1B Summary This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010] Expression Broad expression in testis (RPKM 5.4), brain (RPKM 1.1) and 22 other tissues See more Orthologs all
DBF4P2, Official Symbol DBF4P2provided by HGNC Official Full Name DBF4 zinc finger pseudogene 2provided by HGNC Primary source HGNC:HGNC:45060 See related Ensembl:ENSG00000271635 AllianceGenome:HGNC:45060 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DBF4P3, Official Symbol DBF4P3provided by HGNC Official Full Name DBF4 zinc finger pseudogene 3provided by HGNC Primary source HGNC:HGNC:45061 See related Ensembl:ENSG00000271097 AllianceGenome:HGNC:45061 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
DBH, Official Symbol DBHprovided by HGNC Official Full Name dopamine beta-hydroxylaseprovided by HGNC Primary source HGNC:HGNC:2689 See related Ensembl:ENSG00000123454 MIM:609312; AllianceGenome:HGNC:2689 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 DBM; ORTHYP1 Summary The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017] Expression Biased expression in adrenal (RPKM 148.5) and liver (RPKM 11.0) See more Orthologs mouse all
DBH-AS1, Official Symbol DBH-AS1provided by HGNC Official Full Name DBH antisense RNA 1provided by HGNC Primary source HGNC:HGNC:24155 See related Ensembl:ENSG00000225756 AllianceGenome:HGNC:24155 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 NCRNA00118 Expression Biased expression in adrenal (RPKM 13.7), liver (RPKM 5.5) and 7 other tissues See more
DBI, Official Symbol DBIprovided by HGNC Official Full Name diazepam binding inhibitor, acyl-CoA binding proteinprovided by HGNC Primary source HGNC:HGNC:2690 See related Ensembl:ENSG00000155368 MIM:125950; AllianceGenome:HGNC:2690 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 EP; ACBP; ACBD1; CCK-RP Summary This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 97.8), liver (RPKM 93.2) and 25 other tissues See more Orthologs mouse all
DBIL5P, Official Symbol DBIL5Pprovided by HGNC Official Full Name diazepam binding inhibitor-like 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:38519 See related Ensembl:ENSG00000231784 AllianceGenome:HGNC:38519 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 ELP2P
DBIL5P2, Official Symbol DBIL5P2provided by HGNC Official Full Name diazepam binding inhibitor-like 5 pseudogene 2provided by HGNC Primary source HGNC:HGNC:38518 See related Ensembl:ENSG00000242412 AllianceGenome:HGNC:38518 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 ELP1P
DBIP1, Official Symbol DBIP1provided by HGNC Official Full Name DBI pseudogene 1provided by HGNC Primary source HGNC:HGNC:2692 See related AllianceGenome:HGNC:2692 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DBIL2
DBN1, Official Symbol DBN1provided by HGNC Official Full Name drebrin 1provided by HGNC Primary source HGNC:HGNC:2695 See related Ensembl:ENSG00000113758 MIM:126660; AllianceGenome:HGNC:2695 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 D0S117E Summary The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimer's disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 21.1), brain (RPKM 16.5) and 24 other tissues See more Orthologs mouse all
DBNDD1, Official Symbol DBNDD1provided by HGNC Official Full Name dysbindin domain containing 1provided by HGNC Primary source HGNC:HGNC:28455 See related Ensembl:ENSG00000003249 MIM:620388; AllianceGenome:HGNC:28455 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 be involved in negative regulation of protein kinase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 6.9), esophagus (RPKM 5.3) and 22 other tissues See more Orthologs mouse all
DBNDD2, Official Symbol DBNDD2provided by HGNC Official Full Name dysbindin domain containing 2provided by HGNC Primary source HGNC:HGNC:15881 See related Ensembl:ENSG00000244274 MIM:611453; AllianceGenome:HGNC:15881 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 CK1BP; HSMNP1; C20orf35 Summary Involved in negative regulation of protein kinase activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 80.2), heart (RPKM 39.7) and 20 other tissues See more Orthologs mouse all
DBNL, Official Symbol DBNLprovided by HGNC Official Full Name drebrin likeprovided by HGNC Primary source HGNC:HGNC:2696 See related Ensembl:ENSG00000136279 MIM:610106; AllianceGenome:HGNC:2696 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 ABP1; HIP55; SH3P7; HIP-55 Summary Enables cadherin binding activity. Predicted to be involved in several processes, including Rac protein signal transduction; nervous system development; and podosome assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in esophagus (RPKM 54.1), spleen (RPKM 52.7) and 25 other tissues See more Orthologs mouse all
DBP, Official Symbol DBPprovided by HGNC Official Full Name D-box binding PAR bZIP transcription factorprovided by HGNC Primary source HGNC:HGNC:2697 See related Ensembl:ENSG00000105516 MIM:124097; AllianceGenome:HGNC:2697 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 DABP; taxREB302 Summary The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014] Expression Ubiquitous expression in ovary (RPKM 6.3), spleen (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
DBR1, Official Symbol DBR1provided by HGNC Official Full Name debranching RNA lariats 1provided by HGNC Primary source HGNC:HGNC:15594 See related Ensembl:ENSG00000138231 MIM:607024; AllianceGenome:HGNC:15594 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 The protein encoded by this gene is an RNA lariat debranching enzyme that hydrolyzes 2'-5' prime branched phosphodiester bonds. The encoded protein specifically targets the bonds at the branch point of excised lariat intron RNA, converting them to linear molecules that are then degraded. This protein may also be involved in retroviral replication. [provided by RefSeq, Nov 2011] Expression Ubiquitous expression in stomach (RPKM 5.7), bone marrow (RPKM 5.2) and 25 other tissues See more Orthologs mouse all
DBT, Official Symbol DBTprovided by HGNC Official Full Name dihydrolipoamide branched chain transacylase E2provided by HGNC Primary source HGNC:HGNC:2698 See related Ensembl:ENSG00000137992 MIM:248610; AllianceGenome:HGNC:2698 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 E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCKDH-E2; BCOADC-E2 Summary The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
DBX1, Official Symbol DBX1provided by HGNC Official Full Name developing brain homeobox 1provided by HGNC Primary source HGNC:HGNC:33185 See related Ensembl:ENSG00000109851 MIM:619830; AllianceGenome:HGNC:33185 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 HLX1 Summary Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in cell differentiation in spinal cord and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within ventral spinal cord interneuron specification. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
DBX2, Official Symbol DBX2provided by HGNC Official Full Name developing brain homeobox 2provided by HGNC Primary source HGNC:HGNC:33186 See related Ensembl:ENSG00000185610 AllianceGenome:HGNC:33186 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 DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 1.7), testis (RPKM 0.5) and 2 other tissues See more Orthologs mouse all
DCAF1, Official Symbol DCAF1provided by HGNC Official Full Name DDB1 and CUL4 associated factor 1provided by HGNC Primary source HGNC:HGNC:30911 See related Ensembl:ENSG00000145041 MIM:617259; AllianceGenome:HGNC:30911 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 RIP; VPRBP Summary Enables estrogen receptor binding activity and histone kinase activity (H2A-T120 specific). Involved in cell competition in a multicellular organism; histone H2A-T120 phosphorylation; and negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of Cul4-RING E3 ubiquitin ligase complex. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 27.5), thyroid (RPKM 8.3) and 24 other tissues See more Orthologs mouse all
DCAF10, Official Symbol DCAF10provided by HGNC Official Full Name DDB1 and CUL4 associated factor 10provided by HGNC Primary source HGNC:HGNC:23686 See related Ensembl:ENSG00000122741 MIM:620295; AllianceGenome:HGNC:23686 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 WDR32 Summary Predicted to be involved in protein ubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 6.2) and 25 other tissues See more Orthologs mouse all
DCAF11, Official Symbol DCAF11provided by HGNC Official Full Name DDB1 and CUL4 associated factor 11provided by HGNC Primary source HGNC:HGNC:20258 See related Ensembl:ENSG00000100897 MIM:613317; AllianceGenome:HGNC:20258 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 GL014; WDR23; PRO2389 Summary This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in liver (RPKM 25.7), small intestine (RPKM 25.5) and 25 other tissues See more Orthologs mouse all
DCAF12, Official Symbol DCAF12provided by HGNC Official Full Name DDB1 and CUL4 associated factor 12provided by HGNC Primary source HGNC:HGNC:19911 See related Ensembl:ENSG00000198876 MIM:620087; AllianceGenome:HGNC:19911 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 CT102; TCC52; WDR40A; KIAA1892 Summary This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009] Expression Broad expression in testis (RPKM 38.2), lymph node (RPKM 19.3) and 25 other tissues See more Orthologs mouse all
DCAF12L1, Official Symbol DCAF12L1provided by HGNC Official Full Name DDB1 and CUL4 associated factor 12 like 1provided by HGNC Primary source HGNC:HGNC:29395 See related Ensembl:ENSG00000198889 AllianceGenome:HGNC:29395 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 WDR40B; KIAA1892L Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 5.0), gall bladder (RPKM 0.9) and 3 other tissues See more Orthologs all
DCAF12L2, Official Symbol DCAF12L2provided by HGNC Official Full Name DDB1 and CUL4 associated factor 12 like 2provided by HGNC Primary source HGNC:HGNC:32950 See related Ensembl:ENSG00000198354 AllianceGenome:HGNC:32950 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 WDR40C Summary This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multi-protein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene appears to represent an intronless retrocopy of a related multi-exon gene located on chromosome 9. However, the CDS of this intronless gene remains intact, it is conserved in other mammalian species, it is known to be transcribed, and it is therefore thought to encode a functional protein. [provided by RefSeq, May 2010] Orthologs all
DCAF13, Official Symbol DCAF13provided by HGNC Official Full Name DDB1 and CUL4 associated factor 13provided by HGNC Primary source HGNC:HGNC:24535 See related Ensembl:ENSG00000164934 MIM:616196; AllianceGenome:HGNC:24535 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 GM83; Sof1; WDSOF1; HSPC064 Summary Enables estrogen receptor binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in several cellular components, including centrosome; cytosol; and nuclear lumen. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 16.5), kidney (RPKM 11.1) and 25 other tissues See more Orthologs mouse all
DCAF13P1, Official Symbol DCAF13P1provided by HGNC Official Full Name DDB1 and CUL4 associated factor 13 pseudogene 1provided by HGNC Primary source HGNC:HGNC:43866 See related Ensembl:ENSG00000242562 AllianceGenome:HGNC:43866 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo