ATP12A (ATPase H+/K+ transporting non-gastric alpha2 subunit)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 479
• Gene name: ATPase H+/K+ transporting non-gastric alpha2 subunit
• Gene symbol: ATP12A
• Synonyms (NCBI Gene): ATP1AL1, H-K-ATPase, HK
• Chromosome: 13
• Chromosome location: 13q12.12|13q12.1-q12.3
• 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 ac

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT806638	hsa-miR-4663	CLIP-seq

Gene ontology (GO) Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IBA
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IDA	9774385
GO:0005391	Function	P-type sodium:potassium-exchanging transporter activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005889	Component	Potassium:proton exchanging ATPase complex	TAS	8838794
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IBA
GO:0006885	Process	Regulation of pH	IEA
GO:0008556	Function	P-type potassium transmembrane transporter activity	IEA
GO:0008900	Function	P-type potassium:proton transporter activity	IDA	8853415
GO:0008900	Function	P-type potassium:proton transporter activity	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	16914892
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	IBA
GO:0036376	Process	Sodium ion export across plasma membrane	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0090533	Component	Cation-transporting ATPase complex	IEA
GO:0098797	Component	Plasma membrane protein complex	IEA
GO:1902600	Process	Proton transmembrane transport	IBA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 182360
• HGNC: 13816
• e!Ensembl: ENSG00000075673

Protein

• UniProt ID: P54707
• Protein name: Potassium-transporting ATPase alpha chain 2 (HK alpha 2) (Non-gastric H(+)/K(+) ATPase subunit alpha) (EC 7.2.2.19) (Non-gastric Na(+)/K(+) ATPase subunit alpha) (EC 7.2.2.13) (Proton pump) (Sodium pump)
• Protein function: The catalytic subunit of a H(+)/K(+) ATPase and/or Na(+)/K(+) ATPase pump which transports K(+) ions in exchange for Na(+) and/or H(+) ions across the apical membrane of epithelial cells. Uses ATP as an energy source to pump K(+) ions into the c
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00122	E1-E2_ATPase	178 → 369		Family
  PF00689	Cation_ATPase_C	814 → 1024	Cation transporting ATPase, C-terminus	Family
  PF00690	Cation_ATPase_N	58 → 126	Cation transporter/ATPase, N-terminus	Domain
  PF00702	Hydrolase	664 → 744		Domain
  PF13246	Cation_ATPase	441 → 536		Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in airway epithelial cells (at protein level) (PubMed:29391451). Found in skin and kidney. Detected in prostate basal cells (at protein level). Expression is increased in benign prostate hyperplasia and tumor tissues (at prot
• Sequence:

  MHQKTPEIYSVELSGTKDIVKTDKGDGKEKYRGLKNNCLELKKKNHKEEFQKELHLDDHK
  LSNRELEEKYGTDIIMGLSSTRAAELLARDGPNSLTPPKQTPEIVKFLKQMVGGFSILLW
  VGAFLCWIAYGIQYSSDKSASLNNVYLGCVLGLVVILTGIFAYYQEAKSTNIMSSFNKMI
  PQQALVIRDSEKKTIPSEQLVVGDIVEVKGGDQIPADIRVLSSQGCRVDNSSLTGESEPQ
  PRSSEFTHENPLETKNICFYSTTCLEGTVTGMVINTGDRTIIGHIASLASGVGNEKTPIA
  IEIEHFVHIVAGVAVSIGILFFIIAVSLKYQVLDSIIFLIGIIVANVPEGLLATVTVTLS
  LTAKRMAKKNCLVKNLEAVETLGSTSIICSDKTGTLTQNRMTVAHLWFDNQIFVADTSED
  HSNQVFDQSSRTWASLSKIITLCNRAEFKPGQENVPIMKKAVIGDASETALLKFSEVILG
  DVMEIRKRNRKVAEIPFNSTNKFQLSIHEMDDPHGKRFLMVMKGAPERILEKCSTIMING
  EEHPLDKSTAKTFHTAYMELGGLGERVLGFCHLYLPADEFPETYSFDIDAMNFPTSNLCF
  VGLLSMIDPPRSTVPDAVTKCRSAGIKVIMVTGDHPITAKAIAKSVGIISANSETVEDIA
  HRLNIAVEQVNKRDAKAAVVTGMELKDMSSEQLDEILANYQEIVFARTSPQQKLIIVEGC
  QRQDAVVAVTGDGVNDSPALKKADIGIAMGIAGSDAAKNAADMVLLDDNFASIVTGVEEG
  RLIFDNLKKTIAYSLTKNIAELCPFLIYIIVGLPLPIGTITILFIDLGTDIIPSIALAYE
  KAESDIMNRKPRHKNKDRLVNQPLAVYSYLHIGLMQALGAFLVYFTVYAQEGFLPRTLIN
  LRVEWEKDYVNDLKDSYGQEWTRYQREYLEWTGYTAFFVGILVQQIADLIIRKTRRNSIF
  QQGLFRNKVIWVGITSQIIIGLILSYGLGSVTALSFTMLRAQYWFVAVPHAILIWVYDEV
  RKLFIRLYPGSWWDKNMYY

• Sequence length: 1039

Pathways

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Ion transport by P-type ATPases
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (6)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS ASSOCIATED MECONIUM ILEUS	—	GWAS catalog	30807572	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (60)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	12230809		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	30705106		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28858946		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	30057104		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	31593102		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	22179016		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31572008		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28924374		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	28151870, 31125052		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	27246801, 28842261, 29162405, 29397800		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	28836158		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28836158		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29024410		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26823428, 30333310, 31019198		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30807572, 32967385	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	28466002, 28787356		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28899441, 31445068		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24064285		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29144812		★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal Ulcer	BEFREE	30789856		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	30401322		★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	28644315, 29352757, 29753831		★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	BEFREE	28321555, 30238767		★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	BEFREE	31320929		★☆☆☆☆ Found in Text Mining only
Gastrinoma	Gastrinoma	BEFREE	28483790		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	27538411		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	29162405		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	12823155, 17559380, 19259653, 19407662, 24894541, 26233549, 27875488, 27896401, 28321555, 28787356, 28787360, 28858946, 29132520, 29340828, 29352757, 30119091, 30401322, 30427843, 30883868, 30919071, 31396703, 31803253		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	28229392		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28983943		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	18712525		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31795777		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29414448		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	31267433		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	BEFREE	30528320		★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	29748329, 30783195		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28479851		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	28836158		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	28420003		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	30333310		★☆☆☆☆ Found in Text Mining only
Magnesium Deficiency	Magnesium Deficiency	BEFREE	31795777		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	27552635		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	28750272		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31572008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	22179016		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26395781, 29436014, 30886648		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28707966, 28978563		★☆☆☆☆ Found in Text Mining only
Meconium ileus	Meconium ileus	BEFREE	30807572		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28899441, 31445068		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22179016, 28707966, 29723285		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	BEFREE	29748329, 30783195		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	28420003		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	30311344		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	27108416		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	22958151		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	22179016		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	28750272		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	30333310		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26395781, 29436014, 30886648		★☆☆☆☆ Found in Text Mining only
Torsades de Pointes	Torsades de Pointes	BEFREE	29731714, 31079148		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATP4A 2 shared pathwaysOxidative phosphorylation, Ion transport by P-type ATPases Related via 2 shared pathways including Oxidative phosphorylation, Ion transport by P-type ATPases. ATP4B 2 shared pathwaysOxidative phosphorylation, Ion transport by P-type ATPases Related via 2 shared pathways including Oxidative phosphorylation, Ion transport by P-type ATPases.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATP4A	0	[]	2	["Oxidative phosphorylation","Ion transport by P-type ATPases"]	0	[]
ATP4B	0	[]	2	["Oxidative phosphorylation","Ion transport by P-type ATPases"]	0	[]

Diseases Linked via Similar Genes

Intrahepatic cholestasis of pregnancy Linked via 1 of 2 related genesATP4A Autoimmune gastritis Linked via 1 of 2 related genesATP4B Gastritis Linked via 1 of 2 related genesATP4B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Intrahepatic cholestasis of pregnancy	1	["ATP4A"]
Autoimmune gastritis	1	["ATP4B"]
Gastritis	1	["ATP4B"]