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 enable ATPase binding activity. Predicted to be involved in vacuolar acidification. Predicted to act upstream of or within proton transmembrane transport. Predicted to be located in membrane. Predicted to be part of vacuolar proton-transporting V-type ATPase complex. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIA and wrinkly skin syndrome. 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