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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: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: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 |
|---|---|---|---|
| 561469 | ZFIN:ZDB-GENE-091113-4 | DANRE01237 | |
| 103042490 | ASTMX12852 | ||
| 108255708 | ICTPU16915 | ||
| 108277010 | ICTPU08557 | ||
| 113583015 | ELEEL30740 | ||
| 105014861 | ESOLU41003 | ||
| 106563184 | SALSA16462 | ||
| 106580324 | SALSA76625 | ||
| 115159435 | SALTR69159 | ||
| 115164441 | SALTR60280 |
