ATP6V0A2

GENE INFORMATION

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Gene name

ATP6V0A2 (HGNC Symbol)

Synonyms

a2, ATP6a2, ATP6N1D, J6B7, Stv1, TJ6, TJ6M, TJ6s, Vph1

Description

ATPase, H+ transporting, lysosomal V0 subunit a2 (HGNC Symbol)

Entrez gene summary

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 cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]

Chromosome

12 (Chromosome progress)

Cytoband

q24.31

Chromosome location (bp)

124196865 - 124246302

Ensembl

ENSG00000185344 (version 73.37)

Entrez gene

23545

UniProt

Q9Y487 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y487

Antibodypedia

ATP6V0A2 antibodies
 

PROTEIN VIEW

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ATP6V0A2-001
 
ATP6V0A2-003
 
ATP6V0A2-006
 
ATP6V0A2-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ATP6V0A2-001 ENSP00000332247
ENST00000330342
Q9Y487
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Show » Show » 856 98.1 No 7
ATP6V0A2-003 ENSP00000443441
ENST00000504192
F5H5F3
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Show » Show » 328 38.1 No 1
ATP6V0A2-006 ENSP00000443726
ENST00000534943
F5H847
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Show » Show » 131 14.8 No 3
ATP6V0A2-007 ENSP00000441143
ENST00000544833
F5GX48
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Show » Show » 138 15.5 No 3