psui3905/ncbi_genes_summary huggingface dataset:
CYP4Z1, Official Symbol CYP4Z1provided by HGNC Official Full Name cytochrome P450 family 4 subfamily Z member 1provided by HGNC Primary source HGNC:HGNC:20583 See related Ensembl:ENSG00000186160 MIM:618953; AllianceGenome:HGNC:20583 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 CYP4A20 Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs all
CYP51A1, Official Symbol CYP51A1provided by HGNC Official Full Name cytochrome P450 family 51 subfamily A member 1provided by HGNC Primary source HGNC:HGNC:2649 See related Ensembl:ENSG00000001630 MIM:601637; AllianceGenome:HGNC:2649 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 LDM; CP51; CYP51; CYPL1; P450L1; P450-14DM Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Broad expression in liver (RPKM 53.6), testis (RPKM 45.9) and 25 other tissues See more Orthologs mouse all
CYP51A1-AS1, Official Symbol CYP51A1-AS1provided by HGNC Official Full Name CYP51A1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:50694 See related Ensembl:ENSG00000188693 AllianceGenome:HGNC:50694 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 LRRD1-AS1 Expression Biased expression in testis (RPKM 2.3), stomach (RPKM 0.8) and 5 other tissues See more
CYP7A1, Official Symbol CYP7A1provided by HGNC Official Full Name cytochrome P450 family 7 subfamily A member 1provided by HGNC Primary source HGNC:HGNC:2651 See related Ensembl:ENSG00000167910 MIM:118455; AllianceGenome:HGNC:2651 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 CP7A; CYP7; CYPVII Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010] Expression Restricted expression toward liver (RPKM 9.3) See more Orthologs mouse all
CYP7B1, Official Symbol CYP7B1provided by HGNC Official Full Name cytochrome P450 family 7 subfamily B member 1provided by HGNC Primary source HGNC:HGNC:2652 See related Ensembl:ENSG00000172817 MIM:603711; AllianceGenome:HGNC:2652 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 CP7B; CBAS3; SPG5A Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016] Expression Ubiquitous expression in thyroid (RPKM 2.3), liver (RPKM 1.9) and 23 other tissues See more Orthologs mouse all
CYP8B1, Official Symbol CYP8B1provided by HGNC Official Full Name cytochrome P450 family 8 subfamily B member 1provided by HGNC Primary source HGNC:HGNC:2653 See related Ensembl:ENSG00000180432 MIM:602172; AllianceGenome:HGNC:2653 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 CP8B; CYP12 Summary This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008] Orthologs mouse all
CYREN, Official Symbol CYRENprovided by HGNC Official Full Name cell cycle regulator of NHEJprovided by HGNC Primary source HGNC:HGNC:22432 See related Ensembl:ENSG00000122783 MIM:616980; AllianceGenome:HGNC:22432 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 MRI; MRI-2; C7orf49 Summary Involved in double-strand break repair via nonhomologous end joining and negative regulation of double-strand break repair via nonhomologous end joining. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 6.0), spleen (RPKM 6.0) and 25 other tissues See more Orthologs mouse all
CYRIA, Official Symbol CYRIAprovided by HGNC Official Full Name CYFIP related Rac1 interactor Aprovided by HGNC Primary source HGNC:HGNC:25373 See related Ensembl:ENSG00000197872 AllianceGenome:HGNC:25373 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 CYRI-A; FAM49A Summary Predicted to enable small GTPase binding activity. Predicted to be involved in regulation of actin filament polymerization. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 30.2), thyroid (RPKM 23.9) and 18 other tissues See more Orthologs mouse all
CYRIB, Official Symbol CYRIBprovided by HGNC Official Full Name CYFIP related Rac1 interactor Bprovided by HGNC Primary source HGNC:HGNC:25216 See related Ensembl:ENSG00000153310 MIM:617978; AllianceGenome:HGNC:25216 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 L1; CYRI; BM-009; CYRI-B; FAM49B Summary Enables small GTPase binding activity. Involved in several processes, including cellular response to molecule of bacterial origin; negative regulation of small GTPase mediated signal transduction; and regulation of organelle organization. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in bone marrow (RPKM 26.7), appendix (RPKM 26.4) and 24 other tissues See more Orthologs mouse all
CYS1, Official Symbol CYS1provided by HGNC Official Full Name cystin 1provided by HGNC Primary source HGNC:HGNC:18525 See related Ensembl:ENSG00000205795 MIM:618713; AllianceGenome:HGNC:18525 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 chromatin binding activity and transcription corepressor activity. Predicted to act upstream of or within animal organ development and regulation of transcription, DNA-templated. Predicted to be located in cytoskeleton; membrane raft; and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in kidney (RPKM 77.2), ovary (RPKM 7.7) and 4 other tissues See more Orthologs mouse all
CYSLTR1, Official Symbol CYSLTR1provided by HGNC Official Full Name cysteinyl leukotriene receptor 1provided by HGNC Primary source HGNC:HGNC:17451 See related Ensembl:ENSG00000173198 MIM:300201; AllianceGenome:HGNC:17451 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 CYSLT1; CYSLTR; CYSLT1R; HMTMF81 Summary This gene encodes a member of the G-protein coupled receptor 1 family. The encoded protein is a receptor for cysteinyl leukotrienes, and is involved in mediating bronchoconstriction via activation of a phosphatidylinositol-calcium second messenger system. Activation of the encoded receptor results in contraction and proliferation of bronchial smooth muscle cells, eosinophil migration, and damage to the mucus layer in the lung. Upregulation of this gene is associated with asthma and dysregulation may also be implicated in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Broad expression in urinary bladder (RPKM 6.1), spleen (RPKM 5.2) and 20 other tissues See more Orthologs mouse all
CYSLTR2, Official Symbol CYSLTR2provided by HGNC Official Full Name cysteinyl leukotriene receptor 2provided by HGNC Primary source HGNC:HGNC:18274 See related Ensembl:ENSG00000152207 MIM:605666; AllianceGenome:HGNC:18274 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 HG57; CYSLT2; GPCR21; HPN321; CYSLT2R; KPG_011; hGPCR21; PSEC0146 Summary The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 7.8), heart (RPKM 2.8) and 17 other tissues See more Orthologs mouse all
CYSRT1, Official Symbol CYSRT1provided by HGNC Official Full Name cysteine rich tail 1provided by HGNC Primary source HGNC:HGNC:30529 See related Ensembl:ENSG00000197191 AllianceGenome:HGNC:30529 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 C9orf169 Summary Enables identical protein binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 16.4), skin (RPKM 3.6) and 2 other tissues See more Orthologs mouse all
CYSTM1, Official Symbol CYSTM1provided by HGNC Official Full Name cysteine rich transmembrane module containing 1provided by HGNC Primary source HGNC:HGNC:30239 See related Ensembl:ENSG00000120306 AllianceGenome:HGNC:30239 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 C5orf32; ORF1-FL49 Summary Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in stomach (RPKM 391.9), duodenum (RPKM 108.1) and 13 other tissues See more Orthologs mouse all
CYTH1, Official Symbol CYTH1provided by HGNC Official Full Name cytohesin 1provided by HGNC Primary source HGNC:HGNC:9501 See related Ensembl:ENSG00000108669 MIM:182115; AllianceGenome:HGNC:9501 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 B2-1; SEC7; PSCD1; D17S811E; CYTOHESIN-1 Summary The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Ubiquitous expression in lymph node (RPKM 26.6), bone marrow (RPKM 23.4) and 25 other tissues See more Orthologs mouse all
CYTH1P1, Official Symbol CYTH1P1provided by HGNC Official Full Name CYTH1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54900 See related Ensembl:ENSG00000271286 AllianceGenome:HGNC:54900 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
CYTH2, Official Symbol CYTH2provided by HGNC Official Full Name cytohesin 2provided by HGNC Primary source HGNC:HGNC:9502 See related Ensembl:ENSG00000105443 MIM:602488; AllianceGenome:HGNC:9502 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 ARNO; CTS18; PSCD2; SEC7L; PSCD2L; CTS18.1; Sec7p-L; Sec7p-like; cytohesin-2 Summary The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] Expression Ubiquitous expression in testis (RPKM 10.9), thyroid (RPKM 9.4) and 25 other tissues See more Orthologs mouse all
CYTH3, Official Symbol CYTH3provided by HGNC Official Full Name cytohesin 3provided by HGNC Primary source HGNC:HGNC:9504 See related Ensembl:ENSG00000008256 MIM:605081; AllianceGenome:HGNC:9504 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 GRP1; ARNO3; PSCD3; cytohesin-3 Summary This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in placenta (RPKM 22.7), fat (RPKM 21.0) and 23 other tissues See more Orthologs mouse all
CYTH4, Official Symbol CYTH4provided by HGNC Official Full Name cytohesin 4provided by HGNC Primary source HGNC:HGNC:9505 See related Ensembl:ENSG00000100055 MIM:606514; AllianceGenome:HGNC:9505 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 CYT4; PSCD4; DJ63G5.1; cytohesin-4 Summary This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Expression Broad expression in appendix (RPKM 28.0), spleen (RPKM 22.5) and 20 other tissues See more Orthologs mouse all
CYTIP, Official Symbol CYTIPprovided by HGNC Official Full Name cytohesin 1 interacting proteinprovided by HGNC Primary source HGNC:HGNC:9506 See related Ensembl:ENSG00000115165 MIM:604448; AllianceGenome:HGNC:9506 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 HE; B3-1; CASP; CYBR; CYTHIP; PSCDBP Summary The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008] Expression Biased expression in lymph node (RPKM 28.7), bone marrow (RPKM 27.5) and 11 other tissues See more Orthologs mouse all
CYTL1, Official Symbol CYTL1provided by HGNC Official Full Name cytokine like 1provided by HGNC Primary source HGNC:HGNC:24435 See related Ensembl:ENSG00000170891 MIM:607930; AllianceGenome:HGNC:24435 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 C17; C4orf4 Summary C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008] Expression Biased expression in placenta (RPKM 17.2), urinary bladder (RPKM 5.8) and 11 other tissues See more Orthologs mouse all
CYTOR, Official Symbol CYTORprovided by HGNC Official Full Name cytoskeleton regulator RNAprovided by HGNC Primary source HGNC:HGNC:28717 See related Ensembl:ENSG00000222041 AllianceGenome:HGNC:28717 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C2orf59; LINC00152; NCRNA00152 Summary This gene produces a long non-coding RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog 2 and participate in the transcriptional silencing of tumor suppressor genes. It may act as a sponge for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017] Expression Broad expression in spleen (RPKM 10.4), bone marrow (RPKM 9.5) and 22 other tissues See more
CYYR1, Official Symbol CYYR1provided by HGNC Official Full Name cysteine and tyrosine rich 1provided by HGNC Primary source HGNC:HGNC:16274 See related Ensembl:ENSG00000166265 MIM:616020; AllianceGenome:HGNC:16274 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 C21orf95 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 4.2), fat (RPKM 3.9) and 23 other tissues See more Orthologs mouse all
CYYR1-AS1, Official Symbol CYYR1-AS1provided by HGNC Official Full Name CYYR1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39560 See related Ensembl:ENSG00000197934 MIM:616021; AllianceGenome:HGNC:39560 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
CZIB, Official Symbol CZIBprovided by HGNC Official Full Name CXXC motif containing zinc binding proteinprovided by HGNC Primary source HGNC:HGNC:26059 See related Ensembl:ENSG00000162384 AllianceGenome:HGNC:26059 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 C1orf123 Summary Enables zinc ion binding activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 26.2), endometrium (RPKM 21.0) and 25 other tissues See more Orthologs mouse all
D21S2088E, Gene symbol D21S2088E Gene description D21S2088E See related Ensembl:ENSG00000228592 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
D2HGDH, Official Symbol D2HGDHprovided by HGNC Official Full Name D-2-hydroxyglutarate dehydrogenaseprovided by HGNC Primary source HGNC:HGNC:28358 See related Ensembl:ENSG00000180902 MIM:609186; AllianceGenome:HGNC:28358 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 D2HGD Summary This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 9.9), kidney (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
DAAM1, Official Symbol DAAM1provided by HGNC Official Full Name dishevelled associated activator of morphogenesis 1provided by HGNC Primary source HGNC:HGNC:18142 See related Ensembl:ENSG00000100592 MIM:606626; AllianceGenome:HGNC:18142 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 Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in skin (RPKM 17.9), esophagus (RPKM 12.9) and 25 other tissues See more Orthologs mouse all
DAAM2, Official Symbol DAAM2provided by HGNC Official Full Name dishevelled associated activator of morphogenesis 2provided by HGNC Primary source HGNC:HGNC:18143 See related Ensembl:ENSG00000146122 MIM:606627; AllianceGenome:HGNC:18143 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 NPHS24; dJ90A20A.1 Summary Predicted to enable actin binding activity and small GTPase binding activity. Predicted to be involved in nervous system development and regulation of Wnt signaling pathway. Predicted to act upstream of or within determination of left/right symmetry. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 23.5), esophagus (RPKM 10.9) and 20 other tissues See more Orthologs mouse all
DAAM2-AS1, Official Symbol DAAM2-AS1provided by HGNC Official Full Name DAAM2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40830 See related Ensembl:ENSG00000235033 AllianceGenome:HGNC:40830 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 brain (RPKM 17.1), esophagus (RPKM 8.0) and 19 other tissues See more
DAB1, Official Symbol DAB1provided by HGNC Official Full Name DAB adaptor protein 1provided by HGNC Primary source HGNC:HGNC:2661 See related Ensembl:ENSG00000173406 MIM:603448; AllianceGenome:HGNC:2661 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 SCA37 Summary The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017] Expression Biased expression in small intestine (RPKM 6.3), duodenum (RPKM 4.1) and 7 other tissues See more Orthologs mouse all
DAB1-AS1, Official Symbol DAB1-AS1provided by HGNC Official Full Name DAB1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49443 See related Ensembl:ENSG00000226759 AllianceGenome:HGNC:49443 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 15.8) See more
DAB2, Official Symbol DAB2provided by HGNC Official Full Name DAB adaptor protein 2provided by HGNC Primary source HGNC:HGNC:2662 See related Ensembl:ENSG00000153071 MIM:601236; AllianceGenome:HGNC:2662 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOC2; DOC-2 Summary This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Broad expression in placenta (RPKM 111.0), kidney (RPKM 73.8) and 20 other tissues See more Orthologs mouse all
DAB2IP, Official Symbol DAB2IPprovided by HGNC Official Full Name DAB2 interacting proteinprovided by HGNC Primary source HGNC:HGNC:17294 See related Ensembl:ENSG00000136848 MIM:609205; AllianceGenome:HGNC:17294 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 AIP1; AIP-1; AF9Q34; DIP1/2 Summary DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010] Expression Ubiquitous expression in colon (RPKM 8.5), testis (RPKM 8.5) and 24 other tissues See more Orthologs mouse all
DACH1, Official Symbol DACH1provided by HGNC Official Full Name dachshund family transcription factor 1provided by HGNC Primary source HGNC:HGNC:2663 See related Ensembl:ENSG00000276644 MIM:603803; AllianceGenome:HGNC:2663 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 DACH Summary This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] Expression Broad expression in adrenal (RPKM 3.2), gall bladder (RPKM 2.4) and 21 other tissues See more Orthologs mouse all
DACH2, Official Symbol DACH2provided by HGNC Official Full Name dachshund family transcription factor 2provided by HGNC Primary source HGNC:HGNC:16814 See related Ensembl:ENSG00000126733 MIM:300608; AllianceGenome:HGNC:16814 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Expression Biased expression in brain (RPKM 3.6) and kidney (RPKM 0.3) See more Orthologs mouse all
DACT1, Official Symbol DACT1provided by HGNC Official Full Name dishevelled binding antagonist of beta catenin 1provided by HGNC Primary source HGNC:HGNC:17748 See related Ensembl:ENSG00000165617 MIM:607861; AllianceGenome:HGNC:17748 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 DPR1; TBS2; FRODO; HDPR1; DAPPER; THYEX3; DAPPER1 Summary The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] Expression Broad expression in gall bladder (RPKM 10.6), ovary (RPKM 9.1) and 22 other tissues See more Orthologs mouse all
DACT2, Official Symbol DACT2provided by HGNC Official Full Name dishevelled binding antagonist of beta catenin 2provided by HGNC Primary source HGNC:HGNC:21231 See related Ensembl:ENSG00000164488 MIM:608966; AllianceGenome:HGNC:21231 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 DPR2; DAPPER2; C6orf116; bA503C24.7 Summary Predicted to enable several functions, including beta-catenin binding activity; delta-catenin binding activity; and protein kinase C binding activity. Predicted to be involved in several processes, including epithelial cell morphogenesis; inner medullary collecting duct development; and negative regulation of nodal signaling pathway. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in placenta (RPKM 6.6), prostate (RPKM 2.5) and 8 other tissues See more Orthologs mouse all
DACT3, Official Symbol DACT3provided by HGNC Official Full Name dishevelled binding antagonist of beta catenin 3provided by HGNC Primary source HGNC:HGNC:30745 See related Ensembl:ENSG00000197380 MIM:611112; AllianceGenome:HGNC:30745 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 RRR1; DAPPER3 Summary Predicted to enable delta-catenin binding activity; protein kinase A binding activity; and protein kinase C binding activity. Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of cell growth. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 11.1), endometrium (RPKM 7.4) and 17 other tissues See more Orthologs mouse all
DACT3-AS1, Official Symbol DACT3-AS1provided by HGNC Official Full Name DACT3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44120 See related Ensembl:ENSG00000245598 AllianceGenome:HGNC:44120 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 1.8), brain (RPKM 0.2) and 1 other tissue See more
DAD1, Official Symbol DAD1provided by HGNC Official Full Name defender against cell death 1provided by HGNC Primary source HGNC:HGNC:2664 See related Ensembl:ENSG00000129562 MIM:600243; AllianceGenome:HGNC:2664 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 OST2 Summary DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 108.7), adrenal (RPKM 94.4) and 25 other tissues See more Orthologs mouse all
DAG1, Official Symbol DAG1provided by HGNC Official Full Name dystroglycan 1provided by HGNC Primary source HGNC:HGNC:2666 See related Ensembl:ENSG00000173402 MIM:128239; AllianceGenome:HGNC:2666 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 A3a; DAG; AGRNR; 156DAG; MDDGA9; MDDGC7; MDDGC9; LGMDR16 Summary This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015] Expression Ubiquitous expression in placenta (RPKM 41.6), heart (RPKM 23.5) and 24 other tissues See more Orthologs mouse all
DAGLA, Official Symbol DAGLAprovided by HGNC Official Full Name diacylglycerol lipase alphaprovided by HGNC Primary source HGNC:HGNC:1165 See related Ensembl:ENSG00000134780 MIM:614015; AllianceGenome:HGNC:1165 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 NSDDR; C11orf11; DAGLALPHA; DAGL(ALPHA) Summary This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010] Expression Broad expression in brain (RPKM 6.7), colon (RPKM 2.0) and 20 other tissues See more Orthologs mouse all
DAGLB, Official Symbol DAGLBprovided by HGNC Official Full Name diacylglycerol lipase betaprovided by HGNC Primary source HGNC:HGNC:28923 See related Ensembl:ENSG00000164535 MIM:614016; AllianceGenome:HGNC:28923 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 KCCR13L; DAGLBETA Summary Enables lipase activity. Involved in arachidonic acid metabolic process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 8.1), brain (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
DALRD3, Official Symbol DALRD3provided by HGNC Official Full Name DALR anticodon binding domain containing 3provided by HGNC Primary source HGNC:HGNC:25536 See related Ensembl:ENSG00000178149 MIM:618904; AllianceGenome:HGNC:25536 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 DEE86; EIEE86 Summary The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013] Expression Ubiquitous expression in testis (RPKM 22.8), prostate (RPKM 21.2) and 25 other tissues See more Orthologs mouse all
DANCR, Official Symbol DANCRprovided by HGNC Official Full Name differentiation antagonizing non-protein coding RNAprovided by HGNC Primary source HGNC:HGNC:28964 See related Ensembl:ENSG00000226950 MIM:614625; AllianceGenome:HGNC:28964 Gene type ncRNA RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AGU2; ANCR; SNHG13; KIAA0114; lncRNA-ANCR Summary This gene produces a long non-coding RNA that functions as a negative regulator of cell differentiation. This transcript associates with enhancer of zeste homolog 2 to repress expression of the runt related transcription factor 2 gene. Increased expression of this transcript may be associated with cancer. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2016] Expression Ubiquitous expression in ovary (RPKM 52.8), thyroid (RPKM 36.9) and 25 other tissues See more Orthologs mouse all
DAND5, Official Symbol DAND5provided by HGNC Official Full Name DAN domain BMP antagonist family member 5provided by HGNC Primary source HGNC:HGNC:26780 See related Ensembl:ENSG00000179284 MIM:609068; AllianceGenome:HGNC:26780 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 SP1; CER2; COCO; CRL2; CERL2; DANTE; GREM3; CKTSF1B3 Summary This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008] Expression Biased expression in heart (RPKM 2.6), brain (RPKM 0.4) and 1 other tissue See more Orthologs mouse all
DANT2, Official Symbol DANT2provided by HGNC Official Full Name DXZ4 associated non-coding transcript 2, distalprovided by HGNC Primary source HGNC:HGNC:50862 See related Ensembl:ENSG00000235244 MIM:301004; AllianceGenome:HGNC:50862 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
DAO, Official Symbol DAOprovided by HGNC Official Full Name D-amino acid oxidaseprovided by HGNC Primary source HGNC:HGNC:2671 See related Ensembl:ENSG00000110887 MIM:124050; AllianceGenome:HGNC:2671 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 DAAO; OXDA; DAMOX Summary This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 37.6) and liver (RPKM 29.1) See more Orthologs mouse all