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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:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000160 | Narrow mouth |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0000260 | Wide anterior fontanel |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000272 | Malar flattening |
| 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 |
|---|---|---|---|
| 109061555 | CYPCA137069 | ||
| 109100783 | CYPCA14959 | ||
| 103739020 | NANGA07936 | ||
| 116452945 | CORMO06544 | ||
| 103259682 | CARSF19588 | ||
| 115614949 | STRHB19967 |
