Gene
atp6v0a2a
- ID
- ZDB-GENE-091113-4
- Name
- ATPase H+ transporting V0 subunit a2a
- Symbol
- atp6v0a2a Nomenclature History
- Previous Names
-
- si:ch211-199i18.4
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to have ATPase binding activity and proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in vacuolar acidification. Predicted to localize to plasma membrane and vacuolar proton-transporting V-type ATPase complex. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIA. Is expressed in female organism. Orthologous to human ATP6V0A2 (ATPase H+ transporting V0 subunit a2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Newman et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive cutis laxa type IIA | Alliance | Cutis laxa, autosomal recessive, type IIA | 219200 |
| wrinkly skin syndrome | Alliance | Wrinkly skin syndrome | 278250 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | ATPase, V0 complex, subunit 116kDa, eukaryotic | V-type ATPase, V0 complex, 116kDa subunit family |
|---|---|---|---|
|
UniProtKB:A0A8M9Q349
|
788 | ||
|
UniProtKB:A0A8M9PZV0
|
782 | ||
|
UniProtKB:E7F7W2
|
842 | ||
|
UniProtKB:A0A8M3AWJ9
|
848 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
atp6v0a2a-201
(1)
|
Havana | 3632 nt |
Interactions and Pathways
No data available
Plasmids
No data available