• Gene id: 90423

Gene Summary

• Gene Symbol: ATP6V1E2   Gene   UCSC   Ensembl
• Aliases: ATP6E1, ATP6EL2, ATP6V1EL2, VMA4
• Gene name: ATPase H+ transporting V1 subunit E2
• Alternate names: V-type proton ATPase subunit E 2, ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2, V-ATPase subunit E 2, testis secretory sperm-binding protein Li 235P, vacuolar proton pump subunit E 2, vacuolar-type proton-translocating ATPase subunit E1,
• Gene location: 2p16-p12 (46542576: 46511846)     Exons: 8     NC_000002.12
• OMIM: 607943

Protein Summary

• Protein general information: Q96A05  
  • Name: V type proton ATPase subunit E 2 (V ATPase subunit E 2) (Vacuolar proton pump subunit E 2)
  • Length: 226  
  • Mass: 26074
  • Tissue specificity: Testis specific. {ECO
• Sequence:

  MALSDVDVKKQIKHMMAFIEQEANEKAEEIDAKAEEEFNIEKGRLVQTQRLKIMEYYEKKEKQIEQQKKILMSTM
  RNQARLKVLRARNDLISDLLSEAKLRLSRIVEDPEVYQGLLDKLVLQGLLRLLEPVMIVRCRPQDLLLVEAAVQK
  AIPEYMTISQKHVEVQIDKEAYLAVNAAGGVEVYSGNQRIKVSNTLESRLDLSAKQKMPEIRMALFGANTNRKFF
  I

• Structural information:
  • Interpro: IPR038495  IPR002842  
  • STRING: ENSP00000304891
• Other Databases: GeneCards:  ATP6V1E2  Malacards:  ATP6V1E2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IBA	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0033178	proton-transporting two-sector ATPase complex, catalytic domain	IEA	cellular component
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0033572	transferrin 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0008553	proton-exporting ATPase activity, phosphorylative mechanism	IEA	molecular function
GO:0001669	acrosomal vesicle	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05165	Human papillomavirus infection
hsa04150	mTOR signaling pathway
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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881