ATP6V0A2

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]

Description

ATPase H+ transporting V0 subunit a2

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Plasma membrane, Focal adhesion sites

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (123712353 - 123761755)

Ensembl ID

ENSG00000185344  (ver. 103.38)

Orthologs

Mouse Atp6v0a2: ENSMUSG00000038023

UniProt

Q9Y487

neXtProt

NX_Q9Y487

Human splice variants
Mouse splice variants

Protein structure