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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| synaptic vesicle lumen acidification | ||
| endosomal lumen acidification |
|
|
| eye pigmentation | ||
| intracellular pH reduction |
|
|
| positive regulation of Wnt signaling pathway |
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 |
|---|---|---|
| ficolin-1-rich granule membrane |
|
|
| external side of plasma membrane | ||
| synaptic vesicle membrane | ||
| membrane | ||
| postsynaptic membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| signaling receptor activity |
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- ATPase H+ transporting accessory protein 2
- Functional Category
-
- G: Carbohydrate transport and metabolism
- K: Transcription
- T: Signal transduction mechanisms
| InterPro |
|---|
| Renin receptor-like |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0060309 | syndromic X-linked intellectual disability | |
| DOID:0060806 | syndromic X-linked intellectual disability Hedera type | |
| DOID:0112105 | X-linked parkinsonism-spasticity syndrome | |
| DOID:10763 | hypertension | |
| DOID:5212 | congenital disorder of glycosylation |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002313 | Spastic paraparesis |
| HP:0002317 | Unsteady gait |
| HP:0002322 | Resting tremor |
| HP:0002345 | Action tremor |
| HP:0002359 | Frequent falls |
| HP:0002396 | Cogwheel rigidity |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0002527 | Falls |
| HP:0002540 | Inability to walk |
| HP:0002600 | Hyporeflexia of lower limbs |
| Disease ID | Disease Name |
|---|---|
| ORPHA:93952 |
|
| OMIM:300911 |
|
| OMIM:300423 |
|
| ORPHA:363654 |
|
| OMIM:301045 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 100974095 | 9597_0:0058b3 | PANPA41155 | ||
| 101018086 | PAPAN43178 | |||
| 101046482 | SAIBB06994 | |||
| 101089582 | FELCA39327 | |||
| 101125474 | 9595_0:005a8b | GORGO43785 | ||
| 101164352 | ORYLA09522 | |||
| 101335111 | TURTR14456 | |||
| 101584246 | OCTDE24170 | |||
| 101693019 | MUSPF12382 | |||
| 101810643 | FICAL09623 |
