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ATPase H+ transporting V0 subunit a2
Summary
- Gene Symbol
-
- ATP6V0A2
- Aliases
-
- ATP6N1D
- ATP6a2
- J6B7
- RTF
- Stv1
- TJ6
- TJ6M
- TJ6s
- V-ATPase subunit a2
- V-type proton ATPase 116 kDa subunit a2
- Vph1
- a2
- a2V
- infantile malignant osteopetrosis
- regeneration and tolerance factor
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Cell membrane
- Endosome
- Glycoprotein
- Hydrogen ion transport
- Phosphoprotein
- Reference proteome
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9Y487 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| proton transmembrane transport |
|
|
| cellular response to increased oxygen levels |
| GO Term | Evidence Code | PMID |
|---|---|---|
| intracellular membrane-bounded organelle | ||
| vacuolar proton-transporting V-type ATPase, V0 domain | ||
| proton-transporting V-type ATPase complex |
|
|
| transmembrane transporter complex | ||
| plasma membrane |
| GO Term | Evidence Code | PMID |
|---|---|---|
| ATPase binding | ||
| proton-transporting ATPase activity, rotational mechanism | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
| DOID:0070140 | autosomal recessive cutis laxa type IIC | |
| DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
| DOID:0070142 | autosomal dominant cutis laxa | |
| DOID:0080001 | bone disease | |
| DOID:0080332 | bicuspid aortic valve disease | |
| DOID:0080333 | aortic valve disease 1 | |
| DOID:0080334 | aortic valve disease 2 | |
| DOID:0080564 | congenital disorder of glycosylation Il | |
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000973 | Cutis laxa |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001302 | Pachygyria |
| HP:0001305 | Dandy-Walker malformation |
| Disease ID | Disease Name |
|---|---|
| OMIM:219200 |
|
| ORPHA:357074 |
|
| OMIM:278250 |
|
| ORPHA:2834 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 174743 | WB:WBGene00006915 | ||
| 176257 | WB:WBGene00006768 | ||
| 177626 | WB:WBGene00006914 | ||
| 178219 | WB:WBGene00006916 | ||
| 34587 | FB:FBgn0032373 | ||
| 42214 | FB:FBgn0038613 | ||
| 246543 | FB:FBgn0028669 | ||
| 103188002 | CALMI38026 | ||
| 102351124 | LATCH18385 | ||
| 561117 | ZFIN:ZDB-GENE-060526-4 | DANRE36906 |
