Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0060862 | mal de Meleda | |
| DOID:0070129 | autosomal recessive cutis laxa type IID | |
| DOID:0070130 | autosomal dominant cutis laxa 1 | |
| DOID:0070131 | autosomal dominant cutis laxa 3 | |
| DOID:0070132 | autosomal recessive cutis laxa type IIIA | |
| DOID:0070133 | autosomal recessive cutis laxa type IB | |
| DOID:0070134 | autosomal recessive cutis laxa type IIA | |
| DOID:0070135 | autosomal recessive cutis laxa type IA | |
| DOID:0070136 | autosomal dominant cutis laxa 2 | |
| DOID:0070137 | autosomal recessive cutis laxa type IIB |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000545 | Myopia |
| HP:0000592 | Blue sclerae |
| HP:0000670 | Carious teeth |
| HP:0000684 | Delayed eruption of teeth |
| HP:0000691 | Microdontia |
| HP:0000726 | Dementia |
| HP:0000750 | Delayed speech and language development |
| HP:0000767 | Pectus excavatum |
| HP:0000938 | Osteopenia |
| 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 |
