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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:0090132 | complex cortical dysplasia with other brain malformations 7 | |
| DOID:0090137 | complex cortical dysplasia with other brain malformations 1 | |
| DOID:0110096 | short-rib thoracic dysplasia 14 with polydactyly | |
| DOID:0110892 | inflammatory bowel disease 1 | |
| DOID:0110942 | autosomal recessive osteopetrosis 1 | |
| DOID:0110946 | autosomal recessive osteopetrosis 7 | |
| DOID:0111045 | platelet-type bleeding disorder 9 | |
| DOID:0111056 | platelet-type bleeding disorder 3 | |
| DOID:0111057 | platelet-type bleeding disorder 11 | |
| DOID:0111135 | congenital generalized lipodystrophy type 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000286 | Epicanthus |
| HP:0000308 | Microretrognathia |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000343 | Long philtrum |
| HP:0000369 | Low-set ears |
| HP:0000431 | Wide nasal bridge |
| HP:0000455 | Broad nasal tip |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| 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 |
