• Gene id: 155066

Gene Summary

• Gene Symbol: ATP6V0E2   Gene   UCSC   Ensembl
• Aliases: ATP6V0E2L, C7orf32
• Gene name: ATPase H+ transporting V0 subunit e2
• Alternate names: V-type proton ATPase subunit e 2, ATPase, H+ transporting V0 subunit E isoform 2-like, H+-ATPase e2 subunit, V-ATPase subunit e 2, lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2, vacuolar proton pump subunit e 2, vacuolar proton-ATPase subunit,
• Gene location: 7q36.1 (149872963: 149880712)     Exons: 6     NC_000007.14
• Gene summary(Entrez): Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes o
• OMIM: 611019

Protein Summary

• Protein general information: Q8NHE4  
  • Name: V type proton ATPase subunit e 2 (V ATPase subunit e 2) (Lysosomal 9 kDa H(+) transporting ATPase V0 subunit e2) (Vacuolar proton pump subunit e 2)
  • Length: 81  
  • Mass: 9184
  • Tissue specificity: Isoform 1 is expressed at high levels in heart, brain and kidney and also detected in inner ear epithelium, vestibule, testis, epididymis and bladder. Isoform 2 is expressed in heart, kidney, placenta and pancreas. Isoform 2 is not det
• Sequence:

  MTAHSFALPVIIFTTFWGLVGIAGPWFVPKGPNRGVIITMLVATAVCCYLFWLIAILAQLNPLFGPQLKNETIWY
  VRFLWE

• Structural information:
  • Interpro: IPR008389  IPR017385  
• Other Databases: GeneCards:  ATP6V0E2  Malacards:  ATP6V0E2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0055085	transmembrane transport	IBA	biological process
GO:0033179	proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0042625	ATPase-coupled ion transmembrane transporter activity	ISS	molecular function
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IGI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:1902600	proton transmembrane transport	IGI	biological process
GO:0007035	vacuolar acidification	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa00190	Oxidative phosphorylation
hsa04145	Phagosome
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05110	Vibrio cholerae infection
hsa04966	Collecting duct acid secretion

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)