• Gene id: 23545

Gene Summary

• Gene Symbol: ATP6V0A2   Gene   UCSC   Ensembl
• Aliases: A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS
• Gene name: ATPase H+ transporting V0 subunit a2
• Alternate names: V-type proton ATPase 116 kDa subunit a isoform 2, V-type proton ATPase 116 kDa subunit a, A2V-ATPase, ATPase, H+ transporting, lysosomal V0 subunit a2, lysosomal H(+)-transporting ATPase V0 subunit a2, regeneration and tolerance factor, v-ATPase 116 kDa, ,
• Gene location: 12q24.31 (123712317: 123761754)     Exons: 21     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse
• OMIM: 611716

Protein Summary

• Protein general information: Q9Y487  
  • Name: V type proton ATPase 116 kDa subunit a isoform 2 (V ATPase 116 kDa isoform a2) (Lysosomal H(+) transporting ATPase V0 subunit a2) (TJ6) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2)
  • Length: 856  
  • Mass: 98,082
  • Tissue specificity: Expressed in neuronal, neuroblastoma and embryonic kidney cell lines (at protein level). {ECO
• Sequence:

  MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRA
  DIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYE
  EFPSLESDSLLDYSCMQRLGAKLGFVSGLINQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVF
  LISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVI
  QVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNIIPTKETPPTRIRTNKF
  TEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFVMFLFALLLVLNENHPRLNQSQEIMRMFFNG
  RYILLLMGLFSVYTGLIYNDCFSKSVNLFGSGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVF
  RGPYPLGIDPIWNLATNRLTFLNSFKMKMSVILGIIHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGY
  LIFMIFYKWLVFSAETSRVAPSILIEFINMFLFPASKTSGLYTGQEYVQRVLLVVTALSVPVLFLGKPLFLLWLH
  NGRSCFGVNRSGYTLIRKDSEEEVSLLGSQDIEEGNHQVEDGCREMACEEFNFGEILMTQVIHSIEYCLGCISNT
  ASYLRLWALSLAHAQLSDVLWAMLMRVGLRVDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEF
  QNKFYVGAGTKFVPFSFSLLSSKFNNDDSVA

• Structural information:
  • Interpro: IPR002490  IPR026028  
  • STRING: ENSP00000332247
• Other Databases: GeneCards:  ATP6V0A2  Malacards:  ATP6V0A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007035	vacuolar acidification	IBA	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0015991	ATP hydrolysis coupled proton transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0051117	ATPase binding	IBA	molecular function
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IBA	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0000220	vacuolar proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006955	immune response	TAS	biological process
GO:0007035	vacuolar acidification	IBA	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0010008	endosome membrane	IEA	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015078	hydrogen ion transmembrane transporter activity	IEA	molecular function
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0015991	ATP hydrolysis coupled proton transport	IEA	biological process
GO:0015992	proton transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033179	proton-transporting V-type ATPase, V0 domain	IEA	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0051117	ATPase binding	IBA	molecular function
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IBA	biological process
GO:0090383	phagosome acidification	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006955	immune response	TAS	biological process
GO:0007035	vacuolar acidification	IBA	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0016241	regulation of macroautophagy	NAS	biological process
GO:0016471	vacuolar proton-transporting V-type ATPase complex	IBA	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0033572	transferrin transport	TAS	biological process
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0046961	proton-transporting ATPase activity, rotational mechanism	IBA	molecular function
GO:0051117	ATPase binding	IBA	molecular function
GO:0070072	vacuolar proton-transporting V-type ATPase complex assembly	IBA	biological process
GO:0090383	phagosome acidification	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04145	Phagosome
hsa04142	Lysosome
hsa04966	Collecting duct acid secretion
hsa04721	Synaptic vesicle cycle
hsa05323	Rheumatoid arthritis
hsa05110	Vibrio cholerae infection
hsa05120	Epithelial cell signaling in Helicobacter pylori infection
hsa05152	Tuberculosis
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Efficient spermatogenesis	MIK: 26226211
Male factor infertility	MIK: 26226211
Male factor infertility	MIK: 23936208
Cutis laxa	KEGG: H00557
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Acrosomal de-acidification	MIK: 30550884
Efficient spermatogenesis	MIK: 26226211
Male infertility	MIK: 23936208
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23936208	Male infertility			70 (35 healthy donors, 35 infertile men)	Male infertility
26226211	Efficient spermatogenesis				Male infertility
30550884	Acrosomal de-acidification				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881