psui3905/ncbi_genes_summary huggingface dataset:
ADAMDEC1, Official Symbol ADAMDEC1provided by HGNC Official Full Name ADAM like decysin 1provided by HGNC Primary source HGNC:HGNC:16299 See related Ensembl:ENSG00000134028 MIM:606393; AllianceGenome:HGNC:16299 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 M12.219 Summary This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008] Expression Biased expression in small intestine (RPKM 233.3), colon (RPKM 104.6) and 4 other tissues See more Orthologs mouse all
ADAMTS1, Official Symbol ADAMTS1provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 1provided by HGNC Primary source HGNC:HGNC:217 See related Ensembl:ENSG00000154734 MIM:605174; AllianceGenome:HGNC:217 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 C3-C5; METH1 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008] Expression Broad expression in ovary (RPKM 126.2), placenta (RPKM 77.2) and 17 other tissues See more Orthologs mouse all
ADAMTS10, Official Symbol ADAMTS10provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 10provided by HGNC Primary source HGNC:HGNC:13201 See related Ensembl:ENSG00000142303 MIM:608990; AllianceGenome:HGNC:13201 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 WMS; WMS1; ADAM-TS10; ADAMTS-10 Summary This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 4.7), fat (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
ADAMTS12, Official Symbol ADAMTS12provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 12provided by HGNC Primary source HGNC:HGNC:14605 See related Ensembl:ENSG00000151388 MIM:606184; AllianceGenome:HGNC:14605 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 PRO4389 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008] Expression Broad expression in fat (RPKM 3.5), gall bladder (RPKM 2.0) and 19 other tissues See more Orthologs mouse all
ADAMTS13, Official Symbol ADAMTS13provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 13provided by HGNC Primary source HGNC:HGNC:1366 See related Ensembl:ENSG00000160323 MIM:604134; AllianceGenome:HGNC:1366 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 VWFCP; C9orf8; vWF-CP; ADAM-TS13; ADAMTS-13 Summary This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Broad expression in liver (RPKM 4.0), testis (RPKM 2.7) and 24 other tissues See more Orthologs mouse all
ADAMTS14, Official Symbol ADAMTS14provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 14provided by HGNC Primary source HGNC:HGNC:14899 See related Ensembl:ENSG00000138316 MIM:607506; AllianceGenome:HGNC:14899 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016] Expression Biased expression in gall bladder (RPKM 3.7), placenta (RPKM 3.6) and 13 other tissues See more Orthologs mouse all
ADAMTS15, Official Symbol ADAMTS15provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 15provided by HGNC Primary source HGNC:HGNC:16305 See related Ensembl:ENSG00000166106 MIM:607509; AllianceGenome:HGNC:16305 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016] Expression Biased expression in fat (RPKM 10.9), placenta (RPKM 8.5) and 13 other tissues See more Orthologs mouse all
ADAMTS16, Official Symbol ADAMTS16provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 16provided by HGNC Primary source HGNC:HGNC:17108 See related Ensembl:ENSG00000145536 MIM:607510; AllianceGenome:HGNC:17108 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 ADAMTS16s Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016] Expression Biased expression in ovary (RPKM 5.4), gall bladder (RPKM 4.3) and 8 other tissues See more Orthologs mouse all
ADAMTS17, Official Symbol ADAMTS17provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 17provided by HGNC Primary source HGNC:HGNC:17109 See related Ensembl:ENSG00000140470 MIM:607511; AllianceGenome:HGNC:17109 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 WMS4 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016] Expression Low expression observed in reference dataset See more Orthologs mouse all
ADAMTS18, Official Symbol ADAMTS18provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 18provided by HGNC Primary source HGNC:HGNC:17110 See related Ensembl:ENSG00000140873 MIM:607512; AllianceGenome:HGNC:17110 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 KNO2; MMCAT; ADAMTS21 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016] Expression Biased expression in placenta (RPKM 9.8), endometrium (RPKM 0.6) and 1 other tissue See more Orthologs mouse all
ADAMTS19, Official Symbol ADAMTS19provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 19provided by HGNC Primary source HGNC:HGNC:17111 See related Ensembl:ENSG00000145808 MIM:607513; AllianceGenome:HGNC:17111 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 CVDP2 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has high sequence similarity to the protein encoded by ADAMTS16, another family member. [provided by RefSeq, Jul 2008] Expression Biased expression in endometrium (RPKM 3.1), placenta (RPKM 1.6) and 2 other tissues See more Orthologs mouse all
ADAMTS19-AS1, Official Symbol ADAMTS19-AS1provided by HGNC Official Full Name ADAMTS19 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40797 See related Ensembl:ENSG00000249421 AllianceGenome:HGNC:40797 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 endometrium (RPKM 1.1), placenta (RPKM 0.7) and 6 other tissues See more
ADAMTS2, Official Symbol ADAMTS2provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 2provided by HGNC Primary source HGNC:HGNC:218 See related Ensembl:ENSG00000087116 MIM:604539; AllianceGenome:HGNC:218 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 NPI; PNPI; PCINP; PCPNI; PCI-NP; PC I-NP; ADAM-TS2; ADAMTS-2; ADAMTS-3; EDSDERMS Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Expression Broad expression in endometrium (RPKM 11.5), placenta (RPKM 8.1) and 21 other tissues See more Orthologs mouse all
ADAMTS20, Official Symbol ADAMTS20provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 20provided by HGNC Primary source HGNC:HGNC:17178 See related Ensembl:ENSG00000173157 MIM:611681; AllianceGenome:HGNC:17178 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 GON-1; ADAM-TS20; ADAMTS-20 Summary The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
ADAMTS3, Official Symbol ADAMTS3provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 3provided by HGNC Primary source HGNC:HGNC:219 See related Ensembl:ENSG00000156140 MIM:605011; AllianceGenome:HGNC:219 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 HKLLS3; ADAMTS-4 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 1.4), ovary (RPKM 1.0) and 22 other tissues See more Orthologs mouse all
ADAMTS4, Official Symbol ADAMTS4provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 4provided by HGNC Primary source HGNC:HGNC:220 See related Ensembl:ENSG00000158859 MIM:603876; AllianceGenome:HGNC:220 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 ADMP-1; ADAMTS-2; ADAMTS-4 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016] Expression Broad expression in gall bladder (RPKM 12.3), appendix (RPKM 11.7) and 19 other tissues See more Orthologs mouse all
ADAMTS5, Official Symbol ADAMTS5provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 5provided by HGNC Primary source HGNC:HGNC:221 See related Ensembl:ENSG00000154736 MIM:605007; AllianceGenome:HGNC:221 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 ADMP-2; ADAM-TS5; ADAMTS-5; ADAMTS11; ADAM-TS 5; ADAMTS-11; ADAM-TS 11 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016] Expression Broad expression in ovary (RPKM 9.8), endometrium (RPKM 9.6) and 17 other tissues See more Orthologs mouse all
ADAMTS6, Official Symbol ADAMTS6provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 6provided by HGNC Primary source HGNC:HGNC:222 See related Ensembl:ENSG00000049192 MIM:605008; AllianceGenome:HGNC:222 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 ADAM-TS6; ADAMTS-6; ADAM-TS 6 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016] Expression Broad expression in placenta (RPKM 1.3), gall bladder (RPKM 1.1) and 19 other tissues See more Orthologs mouse all
ADAMTS7, Official Symbol ADAMTS7provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 7provided by HGNC Primary source HGNC:HGNC:223 See related Ensembl:ENSG00000136378 MIM:605009; AllianceGenome:HGNC:223 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 ADAM-TS7; ADAMTS-7; ADAM-TS 7 Summary The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016] Expression Broad expression in endometrium (RPKM 4.6), heart (RPKM 3.1) and 20 other tissues See more Orthologs mouse all
ADAMTS7P3, Official Symbol ADAMTS7P3provided by HGNC Official Full Name ADAMTS7 pseudogene 3provided by HGNC Primary source HGNC:HGNC:49409 See related Ensembl:ENSG00000261143 AllianceGenome:HGNC:49409 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ADAMTS7P4, Official Symbol ADAMTS7P4provided by HGNC Official Full Name ADAMTS7 pseudogene 4provided by HGNC Primary source HGNC:HGNC:49410 See related Ensembl:ENSG00000218052 AllianceGenome:HGNC:49410 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ADAMTS8, Official Symbol ADAMTS8provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 8provided by HGNC Primary source HGNC:HGNC:224 See related Ensembl:ENSG00000134917 MIM:605175; AllianceGenome:HGNC:224 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 METH2; ADAM-TS8 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016] Expression Biased expression in lung (RPKM 12.6), appendix (RPKM 7.0) and 8 other tissues See more Orthologs mouse all
ADAMTS9, Official Symbol ADAMTS9provided by HGNC Official Full Name ADAM metallopeptidase with thrombospondin type 1 motif 9provided by HGNC Primary source HGNC:HGNC:13202 See related Ensembl:ENSG00000163638 MIM:605421; AllianceGenome:HGNC:13202 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016] Expression Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 other tissues See more Orthologs mouse all
ADAMTS9-AS1, Official Symbol ADAMTS9-AS1provided by HGNC Official Full Name ADAMTS9 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40625 See related Ensembl:ENSG00000241158 AllianceGenome:HGNC:40625 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in kidney (RPKM 21.7), ovary (RPKM 6.4) and 6 other tissues See more
ADAMTS9-AS2, Official Symbol ADAMTS9-AS2provided by HGNC Official Full Name ADAMTS9 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:42435 See related Ensembl:ENSG00000241684 AllianceGenome:HGNC:42435 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 ovary (RPKM 6.7), endometrium (RPKM 4.3) and 18 other tissues See more
ADAMTSL1, Official Symbol ADAMTSL1provided by HGNC Official Full Name ADAMTS like 1provided by HGNC Primary source HGNC:HGNC:14632 See related Ensembl:ENSG00000178031 MIM:609198; AllianceGenome:HGNC:14632 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 C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1 Summary This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008] Expression Broad expression in endometrium (RPKM 1.9), prostate (RPKM 1.7) and 23 other tissues See more Orthologs mouse all
ADAMTSL2, Official Symbol ADAMTSL2provided by HGNC Official Full Name ADAMTS like 2provided by HGNC Primary source HGNC:HGNC:14631 See related Ensembl:ENSG00000197859 MIM:612277; AllianceGenome:HGNC:14631 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 GPHYSD1; ADAMTSL-2 Summary This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009] Expression Broad expression in kidney (RPKM 10.4), adrenal (RPKM 9.6) and 18 other tissues See more Orthologs mouse all
ADAMTSL3, Official Symbol ADAMTSL3provided by HGNC Official Full Name ADAMTS like 3provided by HGNC Primary source HGNC:HGNC:14633 See related Ensembl:ENSG00000156218 MIM:609199; AllianceGenome:HGNC:14633 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 ADAMTSL-3 Summary Predicted to be involved in extracellular matrix organization. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lung (RPKM 4.5), placenta (RPKM 4.0) and 24 other tissues See more Orthologs mouse all
ADAMTSL4, Official Symbol ADAMTSL4provided by HGNC Official Full Name ADAMTS like 4provided by HGNC Primary source HGNC:HGNC:19706 See related Ensembl:ENSG00000143382 MIM:610113; AllianceGenome:HGNC:19706 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 TSRC1; ECTOL2; ADAMTSL-4 Summary This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014] Expression Biased expression in placenta (RPKM 57.7), lung (RPKM 14.8) and 11 other tissues See more Orthologs mouse all
ADAMTSL4-AS1, Official Symbol ADAMTSL4-AS1provided by HGNC Official Full Name ADAMTSL4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:32041 See related Ensembl:ENSG00000143384 AllianceGenome:HGNC:32041 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 C1orf138 Expression Biased expression in placenta (RPKM 48.0), lung (RPKM 13.9) and 12 other tissues See more
ADAMTSL5, Official Symbol ADAMTSL5provided by HGNC Official Full Name ADAMTS like 5provided by HGNC Primary source HGNC:HGNC:27912 See related Ensembl:ENSG00000185761 AllianceGenome:HGNC:27912 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 THSD6 Summary Enables heparin binding activity and microfibril binding activity. Located in extracellular region and microfibril. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in endometrium (RPKM 3.3), heart (RPKM 2.8) and 21 other tissues See more Orthologs mouse all
ADAP1, Official Symbol ADAP1provided by HGNC Official Full Name ArfGAP with dual PH domains 1provided by HGNC Primary source HGNC:HGNC:16486 See related Ensembl:ENSG00000105963 MIM:608114; AllianceGenome:HGNC:16486 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 GCS1L; CENTA1; p42IP4 Summary Enables GTPase activator activity. Involved in regulation of GTPase activity. Located in cytosol; nucleus; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 18.4), colon (RPKM 17.8) and 18 other tissues See more Orthologs mouse all
ADAP2, Official Symbol ADAP2provided by HGNC Official Full Name ArfGAP with dual PH domains 2provided by HGNC Primary source HGNC:HGNC:16487 See related Ensembl:ENSG00000184060 MIM:608635; AllianceGenome:HGNC:16487 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 CENTA2; cent-b; HSA272195 Summary The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016] Expression Broad expression in spleen (RPKM 10.3), placenta (RPKM 9.9) and 23 other tissues See more Orthologs mouse all
ADAR, Official Symbol ADARprovided by HGNC Official Full Name adenosine deaminase RNA specificprovided by HGNC Primary source HGNC:HGNC:225 See related Ensembl:ENSG00000160710 MIM:146920; AllianceGenome:HGNC:225 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 DSH; AGS6; G1P1; IFI4; P136; ADAR1; DRADA; DSRAD; IFI-4; K88DSRBP Summary This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in spleen (RPKM 49.6), appendix (RPKM 40.8) and 25 other tissues See more Orthologs mouse all
ADARB1, Official Symbol ADARB1provided by HGNC Official Full Name adenosine deaminase RNA specific B1provided by HGNC Primary source HGNC:HGNC:226 See related Ensembl:ENSG00000197381 MIM:601218; AllianceGenome:HGNC:226 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 RED1; ADAR2; DRABA2; DRADA2; NEDHYMS Summary This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lung (RPKM 5.2), urinary bladder (RPKM 3.4) and 24 other tissues See more Orthologs mouse all
ADARB2, Official Symbol ADARB2provided by HGNC Official Full Name adenosine deaminase RNA specific B2 (inactive)provided by HGNC Primary source HGNC:HGNC:227 See related Ensembl:ENSG00000185736 MIM:602065; AllianceGenome:HGNC:227 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 RED2; ADAR3 Summary This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 4.7), salivary gland (RPKM 0.5) and 3 other tissues See more Orthologs mouse all
ADARB2-AS1, Official Symbol ADARB2-AS1provided by HGNC Official Full Name ADARB2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:23299 See related Ensembl:ENSG00000205696 AllianceGenome:HGNC:23299 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 C10orf109; NCRNA00168 Expression Low expression observed in reference dataset See more
ADAT1, Official Symbol ADAT1provided by HGNC Official Full Name adenosine deaminase tRNA specific 1provided by HGNC Primary source HGNC:HGNC:228 See related Ensembl:ENSG00000065457 MIM:604230; AllianceGenome:HGNC:228 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 HADAT1 Summary This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in testis (RPKM 4.0), thyroid (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
ADAT2, Official Symbol ADAT2provided by HGNC Official Full Name adenosine deaminase tRNA specific 2provided by HGNC Primary source HGNC:HGNC:21172 See related Ensembl:ENSG00000189007 MIM:615388; AllianceGenome:HGNC:21172 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 TAD2; DEADC1; dJ20N2; dJ20N2.1 Summary Predicted to enable tRNA-specific adenosine-34 deaminase activity. Predicted to be involved in tRNA wobble adenosine to inosine editing. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 2.8), lymph node (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
ADAT3, Official Symbol ADAT3provided by HGNC Official Full Name adenosine deaminase tRNA specific 3provided by HGNC Primary source HGNC:HGNC:25151 See related Ensembl:ENSG00000213638 MIM:615302; AllianceGenome:HGNC:25151 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 TAD3; MRT36; FWP005; MST121; NEDBGF; S863-5; MSTP121 Summary This gene encodes a subunit of a tRNA-specific adenosine deaminase. This heterodimeric enzyme converts adenosine to inosine in the tRNA anticodon. A mutation in this gene causes a syndrome characterized by intellectual disability and strabismus. This gene shares its 5' exon with the overlapping gene, secretory carrier membrane protein 4 (Gene ID: 113178). [provided by RefSeq, Jul 2016] Expression Broad expression in colon (RPKM 2.1), stomach (RPKM 1.3) and 22 other tissues See more Orthologs mouse all
ADCK1, Official Symbol ADCK1provided by HGNC Official Full Name aarF domain containing kinase 1provided by HGNC Primary source HGNC:HGNC:19038 See related Ensembl:ENSG00000063761 MIM:620399; AllianceGenome:HGNC:19038 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 MCP2 Summary Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Involved in negative regulation of mitochondrial fusion and positive regulation of cristae formation. Predicted to be located in extracellular region. Predicted to be active in mitochondrial inner membrane. Predicted to be integral component of mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 2.2), thyroid (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
ADCK2, Official Symbol ADCK2provided by HGNC Official Full Name aarF domain containing kinase 2provided by HGNC Primary source HGNC:HGNC:19039 See related Ensembl:ENSG00000133597 AllianceGenome:HGNC:19039 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 AARF Summary Predicted to enable ATP binding activity and protein serine/threonine kinase activity. Predicted to be involved in protein phosphorylation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 8.8), brain (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
ADCK5, Official Symbol ADCK5provided by HGNC Official Full Name aarF domain containing kinase 5provided by HGNC Primary source HGNC:HGNC:21738 See related Ensembl:ENSG00000173137 AllianceGenome:HGNC:21738 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 protein serine/threonine kinase activity. Predicted to be involved in protein phosphorylation. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in duodenum (RPKM 5.3), small intestine (RPKM 4.4) and 25 other tissues See more Orthologs mouse all
ADCY1, Official Symbol ADCY1provided by HGNC Official Full Name adenylate cyclase 1provided by HGNC Primary source HGNC:HGNC:232 See related Ensembl:ENSG00000164742 MIM:103072; AllianceGenome:HGNC:232 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 AC1; DFNB44 Summary This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Biased expression in brain (RPKM 14.3), testis (RPKM 1.6) and 7 other tissues See more Orthologs mouse all
ADCY10, Official Symbol ADCY10provided by HGNC Official Full Name adenylate cyclase 10provided by HGNC Primary source HGNC:HGNC:21285 See related Ensembl:ENSG00000143199 MIM:605205; AllianceGenome:HGNC:21285 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 SAC; HCA2; SACI; Sacy; hsAC; HEL-S-7a Summary The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014] Expression Restricted expression toward testis (RPKM 5.6) See more Orthologs mouse all
ADCY2, Official Symbol ADCY2provided by HGNC Official Full Name adenylate cyclase 2provided by HGNC Primary source HGNC:HGNC:233 See related Ensembl:ENSG00000078295 MIM:103071; AllianceGenome:HGNC:233 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 AC2; HBAC2 Summary This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 19.2), prostate (RPKM 3.0) and 6 other tissues See more Orthologs mouse all