• Gene id: 496

Gene Summary

• Gene Symbol: ATP4B   Gene   UCSC   Ensembl
• Aliases: ATP6B
• Gene name: ATPase H+/K+ transporting subunit beta
• Alternate names: potassium-transporting ATPase subunit beta, ATPase H+/K+ transporting beta subunit, ATPase, H+/K+ exchanging, beta polypeptide, ATPase, H+/K+ transporting, beta polypeptide, gastric H(+)/K(+) ATPase subunit beta, gastric H+/K+ ATPase beta subunit, gastric hydro,
• Gene location: 13q34 (113658197: 113648803)     Exons: 7     NC_000013.11
• Gene summary(Entrez): 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

SNPs

rs1052133

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.9757089C>G
NC_000003.12   g.9757089C>T
NC_000003.11   g.9798773C>G
NC_000003.11   g.9798773C>T
NG_012106.1   g.12146C>G
NG_012106.1   g.12146C>T
NM_002542.5   c.977C>G
NM_002542.5   c.977C>T
NM_016819.3   c.*246C>G
NM_016819.3   c.*246C>T
NM_016820.3   c.

Protein Summary

• Protein general information: P51164  
  • Name: Potassium transporting ATPase subunit beta (Gastric H(+)/K(+) ATPase subunit beta) (Proton pump beta chain)
  • Length: 291  
  • Mass: 33367
• Sequence:

  MAALQEKKTCGQRMEEFQRYCWNPDTGQMLGRTLSRWVWISLYYVAFYVVMTGLFALCLYVLMQTVDPYTPDYQD
  QLRSPGVTLRPDVYGEKGLEIVYNVSDNRTWADLTQTLHAFLAGYSPAAQEDSINCTSEQYFFQESFRAPNHTKF
  SCKFTADMLQNCSGLADPNFGFEEGKPCFIIKMNRIVKFLPSNGSAPRVDCAFLDQPRELGQPLQVKYYPPNGTF
  SLHYFPYYGKKAQPHYSNPLVAAKLLNIPRNAEVAIVCKVMAEHVTFNNPHDPYEGKVEFKLKIEK

• Structural information:
  • Interpro: IPR000402  IPR038702  
  • Prosite: PS00390 PS00391
  • STRING: ENSP00000334216
• Other Databases: GeneCards:  ATP4B  Malacards:  ATP4B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036376	sodium ion export across plasma membrane	IBA	biological process
GO:0006883	cellular sodium ion homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0030007	cellular potassium ion homeostasis	IBA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IBA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	IBA	contributes to
GO:0001671	ATPase activator activity	IBA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0008900	potassium:proton exchanging ATPase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010243	response to organonitrogen compound	IEA	biological process
GO:0045851	pH reduction	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008144	drug binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0032781	positive regulation of ATPase activity	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00190	Oxidative phosphorylation
hsa04971	Gastric acid secretion
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Stomach cancer	PMID:23317218
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray