Gene
atp6v0a2b
- ID
- ZDB-GENE-060526-4
- Name
- ATPase H+ transporting V0 subunit a2b
- Symbol
- atp6v0a2b Nomenclature History
- Previous Names
-
- si:ch211-106a19.2
- Type
- protein_coding_gene
- Location
- Chr: 5 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. Orthologous to human ATP6V0A2 (ATPase H+ transporting V0 subunit a2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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:A2BEG0
|
849 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
atp6v0a2b-201
(1)
|
Ensembl | 4,038 nt | ||
| ncRNA |
atp6v0a2b-002
(1)
|
Ensembl | 893 nt | ||
| ncRNA |
atp6v0a2b-003
(1)
|
Ensembl | 517 nt |
Interactions and Pathways
No data available
Plasmids
No data available