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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 |
|---|---|---|
| intracellular pH reduction |
|
|
| regulation of MAPK cascade | ||
| eye pigmentation | ||
| lysosomal lumen acidification | ||
| positive regulation of transforming growth factor beta1 production |
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:1681 | heart septal defect | |
| DOID:1712 | aortic valve stenosis | |
| DOID:1826 | epilepsy | |
| DOID:1837 | diabetic ketoacidosis | |
| DOID:1936 | atherosclerosis | |
| DOID:2007 | degeneration of macula and posterior pole | |
| DOID:2348 | arteriosclerotic cardiovascular disease | |
| DOID:2349 | arteriosclerosis | |
| DOID:2377 | multiple sclerosis | |
| DOID:2411 | granular cell tumor |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000047 | Hypospadias |
| HP:0000298 | Mask-like facies |
| HP:0000338 | Hypomimic face |
| HP:0000341 | Narrow forehead |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000750 | Delayed speech and language development |
| HP:0000952 | Jaundice |
| HP:0000973 | Cutis laxa |
| HP:0001249 | Intellectual disability |
| 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 |
|---|---|---|---|
| 107593087 | SINGR54909 | ||
| 116833979 | CHEAB11799 | ||
| 115061980 | ECHNA12642 | ||
| 115403613 | SALFA50805 | ||
| 105808447 | PROCO18760 | ||
| 103741955 | NANGA06100 | ||
| 116440309 | CORMO15358 | ||
| 115603788 | STRHB00316 |
