ATP6V0A2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ATP6V0A2 |
| Official Name | ATPase H+ transporting V0 subunit a2 [Source:HGNC Symbol;Acc:HGNC:18481] |
| Ensembl ID | ENSG00000185344 |
| Bio databases IDs | |
| Aliases | ATPase H+ transporting V0 subunit a2, infantile malignant osteopetrosis, V-ATPase subunit a2, V-type proton ATPase 116 kDa subunit a2, regeneration and tolerance factor |
| Synonyms | 8430408C20Rik, A2, a2V, ARCL, ARCL2A, ATP6A2, ATP6N1D, Atp6n2, Atp6v0a2 predicted, ATPase, H+ transporting, lysosomal V0 subunit A2, ATPase H+ transporting V0 subunit a2, Cc1-3, ISF, J6B7, RTF, SHIF, STV1, TJ6, TJ6M, TJ6S, V-ATPase 116 kDa, V-ATPase a2, V-ATPase V0-a2, VPH1, WSS |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ATP6V0A2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ETGE motif
- protein binding
- cytosolic tail domain
- V-type ATPase 116kDa subunit family
- transporter
Pathways
Biological processes and signaling networks where the ATP6V0A2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- congenital disorder of glycosylation type 1l
- autosomal recessive cutis laxa type 2A
- cutis laxa
- hereditary disorder
- wrinkly skin syndrome
role in cell
- expression in
- quantity
- proliferation
- activation
- production in
- pH
- homeostasis in
- endocytosis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- intracellular membrane-bounded organelle
- organelle
- apical compartment
- perinuclear region
- cellular membrane
- focal adhesions
- Plasma Membrane
- endosomes
- endosomal membrane
- acrosome
- early endosomes
- apical vesicles
- phagosomes
- cis Golgi cisternae
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ATP6V0A2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular iron ion homeostasis
- immune response
- regulation of macroautophagy
- vacuolar acidification
Cellular Component
Where in the cell the gene product is active
- proton-transporting V-type ATPase complex
- Golgi membrane
- plasma membrane
- lysosomal membrane
- vacuolar proton-transporting V-type ATPase, V0 domain
- perinuclear region of cytoplasm
- focal adhesion
- intracellular membrane-bounded organelle
- acrosomal vesicle
- vacuolar proton-transporting V-type ATPase complex
- phagocytic vesicle membrane
- endosome membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- proton-transporting ATPase activity, rotational mechanism
- ATPase binding