psui3905/ncbi_genes_summary huggingface dataset:
ATOH8, Official Symbol ATOH8provided by HGNC Official Full Name atonal bHLH transcription factor 8provided by HGNC Primary source HGNC:HGNC:24126 See related Ensembl:ENSG00000168874 MIM:619820; AllianceGenome:HGNC:24126 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 HATH6; bHLHa21 Summary Enables DNA-binding transcription factor activity and E-box binding activity. Involved in several processes, including SMAD protein signal transduction; positive regulation of endothelial cell differentiation; and regulation of gene expression. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 7.4), lung (RPKM 4.9) and 19 other tissues See more Orthologs mouse all
ATOSA, Official Symbol ATOSAprovided by HGNC Official Full Name atos homolog Aprovided by HGNC Primary source HGNC:HGNC:25609 See related Ensembl:ENSG00000047346 MIM:620168; AllianceGenome:HGNC:25609 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 FAM214A; KIAA1370 Expression Ubiquitous expression in fat (RPKM 18.5), testis (RPKM 13.2) and 25 other tissues See more Orthologs mouse all
ATOSB, Official Symbol ATOSBprovided by HGNC Official Full Name atos homolog Bprovided by HGNC Primary source HGNC:HGNC:25666 See related Ensembl:ENSG00000005238 MIM:620169; AllianceGenome:HGNC:25666 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 FAM214B; KIAA1539 Summary Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 6.4) and 24 other tissues See more Orthologs mouse all
ATOX1, Official Symbol ATOX1provided by HGNC Official Full Name antioxidant 1 copper chaperoneprovided by HGNC Primary source HGNC:HGNC:798 See related Ensembl:ENSG00000177556 MIM:602270; AllianceGenome:HGNC:798 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 ATX1; HAH1 Summary This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 54.4), kidney (RPKM 49.1) and 25 other tissues See more Orthologs mouse all
ATP10A, Official Symbol ATP10Aprovided by HGNC Official Full Name ATPase phospholipid transporting 10A (putative)provided by HGNC Primary source HGNC:HGNC:13542 See related Ensembl:ENSG00000206190 MIM:605855; AllianceGenome:HGNC:13542 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 ATPVA; ATPVC; ATP10C Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 2.8), lung (RPKM 2.6) and 23 other tissues See more Orthologs mouse all
ATP10B, Official Symbol ATP10Bprovided by HGNC Official Full Name ATPase phospholipid transporting 10B (putative)provided by HGNC Primary source HGNC:HGNC:13543 See related Ensembl:ENSG00000118322 MIM:619791; AllianceGenome:HGNC:13543 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 ATPVB Summary Enables glycosylceramide flippase activity and phosphatidylcholine flippase activity. Involved in lysosomal membrane organization. Located in endoplasmic reticulum. Is integral component of lysosomal membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 23.9), duodenum (RPKM 11.1) and 7 other tissues See more Orthologs mouse all
ATP10D, Official Symbol ATP10Dprovided by HGNC Official Full Name ATPase phospholipid transporting 10D (putative)provided by HGNC Primary source HGNC:HGNC:13549 See related Ensembl:ENSG00000145246 MIM:619815; AllianceGenome:HGNC:13549 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 ATPVD Summary Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum; nucleoplasm; and plasma membrane. Is integral component of plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 7.9), skin (RPKM 7.8) and 25 other tissues See more Orthologs all
ATP11A, Official Symbol ATP11Aprovided by HGNC Official Full Name ATPase phospholipid transporting 11Aprovided by HGNC Primary source HGNC:HGNC:13552 See related Ensembl:ENSG00000068650 MIM:605868; AllianceGenome:HGNC:13552 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 ATPIH; ATPIS; AUNA2; HLD24; DFNA84 Summary The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Broad expression in lung (RPKM 20.5), gall bladder (RPKM 8.1) and 25 other tissues See more Orthologs mouse all
ATP11A-AS1, Official Symbol ATP11A-AS1provided by HGNC Official Full Name ATP11A antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40645 See related Ensembl:ENSG00000232684 AllianceGenome:HGNC:40645 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 1.1) See more
ATP11AUN, Official Symbol ATP11AUNprovided by HGNC Official Full Name ATP11A upstream neighbor lncRNAprovided by HGNC Primary source HGNC:HGNC:33793 See related Ensembl:ENSG00000197595 AllianceGenome:HGNC:33793 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 SMABLO1; C13orf35 Expression Low expression observed in reference dataset See more Orthologs all
ATP11B, Official Symbol ATP11Bprovided by HGNC Official Full Name ATPase phospholipid transporting 11B (putative)provided by HGNC Primary source HGNC:HGNC:13553 See related Ensembl:ENSG00000058063 MIM:605869; AllianceGenome:HGNC:13553 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 ATPIF; ATPIR Summary P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005] Expression Ubiquitous expression in esophagus (RPKM 12.0), bone marrow (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
ATP11C, Official Symbol ATP11Cprovided by HGNC Official Full Name ATPase phospholipid transporting 11Cprovided by HGNC Primary source HGNC:HGNC:13554 See related Ensembl:ENSG00000101974 MIM:300516; AllianceGenome:HGNC:13554 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 ATPIG; ATPIQ; HACXL Summary Enables phosphatidylethanolamine flippase activity and phosphatidylserine flippase activity. Predicted to be involved in phospholipid translocation; positive regulation of B cell differentiation; and pre-B cell differentiation. Located in endoplasmic reticulum and plasma membrane. Is integral component of plasma membrane. Implicated in X-linked congenital hemolytic anemia. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 9.4), urinary bladder (RPKM 5.9) and 24 other tissues See more Orthologs mouse all
ATP12A, Official Symbol ATP12Aprovided by HGNC Official Full Name ATPase H+/K+ transporting non-gastric alpha2 subunitprovided by HGNC Primary source HGNC:HGNC:13816 See related Ensembl:ENSG00000075673 MIM:182360; AllianceGenome:HGNC:13816 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 HK; ATP1AL1; H-K-ATPase Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Expression Biased expression in esophagus (RPKM 7.0), kidney (RPKM 4.1) and 5 other tissues See more Orthologs mouse all
ATP13A1, Official Symbol ATP13A1provided by HGNC Official Full Name ATPase 13A1provided by HGNC Primary source HGNC:HGNC:24215 See related Ensembl:ENSG00000105726 MIM:619118; AllianceGenome:HGNC:24215 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 ATP13A; CGI-152 Summary Enables transmembrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 18.6), testis (RPKM 14.9) and 25 other tissues See more Orthologs mouse all
ATP13A2, Official Symbol ATP13A2provided by HGNC Official Full Name ATPase cation transporting 13A2provided by HGNC Primary source HGNC:HGNC:30213 See related Ensembl:ENSG00000159363 MIM:610513; AllianceGenome:HGNC:30213 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 CLN12; KRPPD; PARK9; SPG78; HSA9947 Summary This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008] Expression Ubiquitous expression in brain (RPKM 19.6), spleen (RPKM 11.2) and 24 other tissues See more Orthologs mouse all
ATP13A3, Official Symbol ATP13A3provided by HGNC Official Full Name ATPase 13A3provided by HGNC Primary source HGNC:HGNC:24113 See related Ensembl:ENSG00000133657 MIM:610232; AllianceGenome:HGNC:24113 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 PPH5; AFURS1 Summary ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008] Expression Ubiquitous expression in thyroid (RPKM 24.7), appendix (RPKM 18.3) and 25 other tissues See more Orthologs mouse all
ATP13A4, Official Symbol ATP13A4provided by HGNC Official Full Name ATPase 13A4provided by HGNC Primary source HGNC:HGNC:25422 See related Ensembl:ENSG00000127249 MIM:609556; AllianceGenome:HGNC:25422 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 ATPase-coupled cation transmembrane transporter activity. Predicted to be involved in cellular calcium ion homeostasis. Predicted to be located in endoplasmic reticulum membrane and endosome membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in thyroid (RPKM 10.9), lung (RPKM 10.1) and 6 other tissues See more Orthologs mouse all
ATP13A5, Official Symbol ATP13A5provided by HGNC Official Full Name ATPase 13A5provided by HGNC Primary source HGNC:HGNC:31789 See related Ensembl:ENSG00000187527 MIM:619119; AllianceGenome:HGNC:31789 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 P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017] Expression Biased expression in salivary gland (RPKM 2.0), skin (RPKM 0.9) and 5 other tissues See more Orthologs mouse all
ATP13A5-AS1, Official Symbol ATP13A5-AS1provided by HGNC Official Full Name ATP13A5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41281 See related AllianceGenome:HGNC:41281 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 1.1), salivary gland (RPKM 0.6) and 7 other tissues See more
ATP1A1, Official Symbol ATP1A1provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit alpha 1provided by HGNC Primary source HGNC:HGNC:799 See related Ensembl:ENSG00000163399 MIM:182310; AllianceGenome:HGNC:799 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 CMT2DD; HOMGSMR2 Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] Expression Broad expression in kidney (RPKM 278.0), thyroid (RPKM 226.4) and 25 other tissues See more Orthologs mouse all
ATP1A1-AS1, Official Symbol ATP1A1-AS1provided by HGNC Official Full Name ATP1A1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:28262 See related Ensembl:ENSG00000203865 MIM:618305; AllianceGenome:HGNC:28262 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATP1A1OS; C1orf203 Expression Ubiquitous expression in kidney (RPKM 93.4), duodenum (RPKM 80.0) and 25 other tissues See more
ATP1A2, Official Symbol ATP1A2provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit alpha 2provided by HGNC Primary source HGNC:HGNC:800 See related Ensembl:ENSG00000018625 MIM:182340; AllianceGenome:HGNC:800 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 FHM2; MHP2; DEE98; FARIMPD Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008] Expression Biased expression in brain (RPKM 189.3), heart (RPKM 37.1) and 3 other tissues See more Orthologs all
ATP1A3, Official Symbol ATP1A3provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit alpha 3provided by HGNC Primary source HGNC:HGNC:801 See related Ensembl:ENSG00000105409 MIM:182350; AllianceGenome:HGNC:801 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 RDP; AHC2; CAPOS; DEE99; DYT12; ATP1A1 Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Biased expression in brain (RPKM 145.6), heart (RPKM 51.8) and 2 other tissues See more Orthologs mouse all
ATP1A4, Official Symbol ATP1A4provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit alpha 4provided by HGNC Primary source HGNC:HGNC:14073 See related Ensembl:ENSG00000132681 MIM:607321; AllianceGenome:HGNC:14073 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 ATP1A1; ATP1AL2 Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in testis (RPKM 7.3), brain (RPKM 2.1) and 4 other tissues See more Orthologs mouse all
ATP1B1, Official Symbol ATP1B1provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit beta 1provided by HGNC Primary source HGNC:HGNC:804 See related Ensembl:ENSG00000143153 MIM:182330; AllianceGenome:HGNC:804 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 ATP1B Summary The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010] Expression Broad expression in kidney (RPKM 716.2), brain (RPKM 270.1) and 14 other tissues See more Orthologs mouse all
ATP1B2, Official Symbol ATP1B2provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit beta 2provided by HGNC Primary source HGNC:HGNC:805 See related Ensembl:ENSG00000129244 MIM:182331; AllianceGenome:HGNC:805 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 AMOG Summary The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014] Expression Biased expression in brain (RPKM 120.9) and ovary (RPKM 11.3) See more Orthologs mouse all
ATP1B3, Official Symbol ATP1B3provided by HGNC Official Full Name ATPase Na+/K+ transporting subunit beta 3provided by HGNC Primary source HGNC:HGNC:806 See related Ensembl:ENSG00000069849 MIM:601867; AllianceGenome:HGNC:806 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 CD298; ATPB-3 Summary The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in adrenal (RPKM 108.4), skin (RPKM 99.2) and 22 other tissues See more Orthologs mouse all
ATP1B3-AS1, Official Symbol ATP1B3-AS1provided by HGNC Official Full Name ATP1B3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40088 See related AllianceGenome:HGNC:40088 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
ATP1B4, Official Symbol ATP1B4provided by HGNC Official Full Name ATPase Na+/K+ transporting family member beta 4provided by HGNC Primary source HGNC:HGNC:808 See related Ensembl:ENSG00000101892 MIM:301073; AllianceGenome:HGNC:808 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 has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010] Expression Biased expression in prostate (RPKM 1.2), esophagus (RPKM 0.3) and 1 other tissue See more Orthologs mouse all
ATP23, Official Symbol ATP23provided by HGNC Official Full Name ATP23 metallopeptidase and ATP synthase assembly factor homologprovided by HGNC Primary source HGNC:HGNC:29452 See related Ensembl:ENSG00000166896 MIM:619760; AllianceGenome:HGNC:29452 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 KUB3; XRCC6BP1 Summary The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016] Expression Broad expression in testis (RPKM 13.5), bone marrow (RPKM 4.5) and 24 other tissues See more Orthologs mouse all
ATP2A1, Official Symbol ATP2A1provided by HGNC Official Full Name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1provided by HGNC Primary source HGNC:HGNC:811 See related Ensembl:ENSG00000196296 MIM:108730; AllianceGenome:HGNC:811 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 ATP2A; SERCA1 Summary This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013] Expression Biased expression in esophagus (RPKM 15.8), prostate (RPKM 13.1) and 1 other tissue See more Orthologs mouse all
ATP2A1-AS1, Official Symbol ATP2A1-AS1provided by HGNC Official Full Name ATP2A1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:51370 See related Ensembl:ENSG00000260442 AllianceGenome:HGNC:51370 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 esophagus (RPKM 2.7), prostate (RPKM 2.4) and 13 other tissues See more
ATP2A2, Official Symbol ATP2A2provided by HGNC Official Full Name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2provided by HGNC Primary source HGNC:HGNC:812 See related Ensembl:ENSG00000174437 MIM:108740; AllianceGenome:HGNC:812 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 DD; DAR; ATP2B; SERCA2 Summary This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019] Expression Broad expression in heart (RPKM 220.5), esophagus (RPKM 62.0) and 24 other tissues See more Orthologs mouse all
ATP2A3, Official Symbol ATP2A3provided by HGNC Official Full Name ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3provided by HGNC Primary source HGNC:HGNC:813 See related Ensembl:ENSG00000074370 MIM:601929; AllianceGenome:HGNC:813 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 SERCA3 Summary This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 38.6), stomach (RPKM 37.7) and 18 other tissues See more Orthologs mouse all
ATP2B1, Official Symbol ATP2B1provided by HGNC Official Full Name ATPase plasma membrane Ca2+ transporting 1provided by HGNC Primary source HGNC:HGNC:814 See related Ensembl:ENSG00000070961 MIM:108731; AllianceGenome:HGNC:814 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 MRD66; PMCA1; PMCA1kb Summary The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 34.3), bone marrow (RPKM 16.4) and 23 other tissues See more Orthologs mouse all
ATP2B1-AS1, Official Symbol ATP2B1-AS1provided by HGNC Official Full Name ATP2B1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:27883 See related Ensembl:ENSG00000271614 AllianceGenome:HGNC:27883 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 LINC00936
ATP2B2, Official Symbol ATP2B2provided by HGNC Official Full Name ATPase plasma membrane Ca2+ transporting 2provided by HGNC Primary source HGNC:HGNC:815 See related Ensembl:ENSG00000157087 MIM:108733; AllianceGenome:HGNC:815 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 PMCA2; DFNA82; PMCA2a; PMCA2i Summary The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 26.8), salivary gland (RPKM 5.2) and 1 other tissue See more Orthologs mouse all
ATP2B3, Official Symbol ATP2B3provided by HGNC Official Full Name ATPase plasma membrane Ca2+ transporting 3provided by HGNC Primary source HGNC:HGNC:816 See related Ensembl:ENSG00000067842 MIM:300014; AllianceGenome:HGNC:816 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 CLA2; OPCA; PMCA3; SCAX1; CFAP39; PMCA3a Summary The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 3.7) and adrenal (RPKM 2.1) See more Orthologs mouse all
ATP2B4, Official Symbol ATP2B4provided by HGNC Official Full Name ATPase plasma membrane Ca2+ transporting 4provided by HGNC Primary source HGNC:HGNC:817 See related Ensembl:ENSG00000058668 MIM:108732; AllianceGenome:HGNC:817 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 MXRA1; PMCA4; ATP2B2; PMCA4b; PMCA4x Summary The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 66.6), fat (RPKM 45.1) and 23 other tissues See more Orthologs mouse all
ATP2C1, Official Symbol ATP2C1provided by HGNC Official Full Name ATPase secretory pathway Ca2+ transporting 1provided by HGNC Primary source HGNC:HGNC:13211 See related Ensembl:ENSG00000017260 MIM:604384; AllianceGenome:HGNC:13211 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 HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A Summary The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in prostate (RPKM 37.4), brain (RPKM 22.8) and 25 other tissues See more Orthologs mouse all
ATP2C2, Official Symbol ATP2C2provided by HGNC Official Full Name ATPase secretory pathway Ca2+ transporting 2provided by HGNC Primary source HGNC:HGNC:29103 See related Ensembl:ENSG00000064270 MIM:613082; AllianceGenome:HGNC:29103 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 SPCA2 Summary Enables P-type calcium transporter activity and P-type manganese transporter activity. Predicted to be involved in calcium ion transmembrane transport; cellular calcium ion homeostasis; and manganese ion transport. Predicted to act upstream of or within mammary gland epithelium development; positive regulation of calcium ion import; and protein localization to plasma membrane. Predicted to be located in trans-Golgi network membrane. Predicted to be active in Golgi membrane; endoplasmic reticulum; and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 16.5), skin (RPKM 9.9) and 12 other tissues See more Orthologs mouse all
ATP2C2-AS1, Official Symbol ATP2C2-AS1provided by HGNC Official Full Name ATP2C2 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53167 See related Ensembl:ENSG00000261286 AllianceGenome:HGNC:53167 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 skin (RPKM 3.8), colon (RPKM 3.7) and 16 other tissues See more
ATP4A, Official Symbol ATP4Aprovided by HGNC Official Full Name ATPase H+/K+ transporting subunit alphaprovided by HGNC Primary source HGNC:HGNC:819 See related Ensembl:ENSG00000105675 MIM:137216; AllianceGenome:HGNC:819 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 ATP6A Summary The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] Expression Restricted expression toward stomach (RPKM 218.2) See more Orthologs mouse all
ATP4B, Official Symbol ATP4Bprovided by HGNC Official Full Name ATPase H+/K+ transporting subunit betaprovided by HGNC Primary source HGNC:HGNC:820 See related Ensembl:ENSG00000186009 MIM:137217; AllianceGenome:HGNC:820 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 ATP6B Summary The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008] Expression Restricted expression toward stomach (RPKM 286.6) See more Orthologs mouse all