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ATPase H+ transporting accessory protein 2
Summary
- Gene Symbol
-
- ATP6AP2
- Aliases
-
- APT6M8-9
- ATP6M8-9
- M8-9
- PRR
- RENR
- V-ATPase M8.9 subunit
- prorenin receptor
- renin receptor
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Cell membrane
- Cell projection
- Cleavage on pair of basic residues
- Congenital disorder of glycosylation
- Cytoplasmic vesicle
- Disease variant
- Endoplasmic reticulum
- Endosome
- Epilepsy
- Intellectual disability
- Lysosome
- Neurodegeneration
- Parkinsonism
- Phosphoprotein
- Postsynaptic cell membrane
- Receptor
- Reference proteome
- Signal
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| O75787 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi lumen acidification |
|
|
| synaptic vesicle lumen acidification | ||
| central nervous system maturation | ||
| head morphogenesis | ||
| angiotensin maturation |
GO Hierarchy
biological process
metabolic process [inference]
homeostatic process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of biosynthetic process [inference]
positive regulation of metabolic process [inference]
regulation of cellular metabolic process [inference]
regulation of macromolecule metabolic process [inference]
positive regulation of biological process [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| autophagosome membrane | ||
| clathrin-coated vesicle membrane | ||
| vacuolar proton-transporting V-type ATPase, V0 domain | ||
| external side of plasma membrane | ||
| axon |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| signaling receptor activity | ||
| protein binding |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060806 | syndromic X-linked intellectual disability Hedera type | |
| DOID:0060891 | Parkinson's disease 19A | |
| DOID:0060895 | Parkinson's disease 4 | |
| DOID:0060896 | Parkinson's disease 23 | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0080205 | CAKUT | |
| DOID:0080334 | aortic valve disease 2 | |
| DOID:0110425 | dilated cardiomyopathy 1A | |
| DOID:0112105 | X-linked parkinsonism-spasticity syndrome | |
| DOID:10283 | prostate cancer |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001848 | Calcaneovalgus deformity |
| HP:0002059 | Cerebral atrophy |
| HP:0002063 | Rigidity |
| HP:0002067 | Bradykinesia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002186 | Apraxia |
| HP:0002188 | Delayed CNS myelination |
| HP:0002240 | Hepatomegaly |
| HP:0002307 | Drooling |
| Disease ID | Disease Name |
|---|---|
| ORPHA:363654 |
|
| OMIM:300911 |
|
| OMIM:301045 |
|
| OMIM:300423 |
|
| ORPHA:93952 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101584246 | OCTDE24170 | ||
| 101870617 | MELUD03323 | ||
| 100028265 | MONDO20912 | ||
| 100560966 | ANOCA04777 | ||
| 114052850 | VOMUR15820 | ||
| 113887062 | BOBOX23670 | ||
| 100957573 | OTOGA03500 | ||
| 102005522 | CHILA24245 | ||
| 105714225 | AOTNA17454 | ||
| 110194635 | PHACI28688 |
