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)
External Links
NCBI Gene
10159
HGNC
18305
KEGG Gene ID
hsa:10159
PubChem
10159
Alliance of Genome Resources
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
Displaying 1 entry
UniProt Protein Name
O75787
  • ATPase H(+)-transporting lysosomal accessory protein 2
  • ATPase H(+)-transporting lysosomal-interacting protein 2
  • ER-localized type I transmembrane adapter
  • Embryonic liver differentiation factor 10
  • N14F
  • Renin/prorenin receptor
  • Vacuolar ATP synthase membrane sector-associated protein M8-9
Gene Ontology (GO)
Displaying entry 16 - 16 of 16 in total
GO Term Evidence Code PMID
endosomal lumen acidification
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K19514
Name
renin receptor
References
Disease
Disease Ontology
Displaying entries 151 - 153 of 153 in total
DO ID Disease Name Source
DOID:9923 developmental coordination disorder
DOID:9931 Waterhouse-Friderichsen syndrome
DOID:9970 obesity
The Human Phenotype Ontology
Displaying entries 11 - 20 of 73 in total
HPO ID HPO Term
HP:0001250 Seizure
HP:0001257 Spasticity
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001270 Motor delay
HP:0001272 Cerebellar atrophy
HP:0001288 Gait disturbance
HP:0001300 Parkinsonism
HP:0001310 Dysmetria
HP:0001347 Hyperreflexia
Displaying all 5 entries
Disease ID Disease Name
ORPHA:363654
  • X-linked parkinsonism-spasticity syndrome
OMIM:300911
  • X-linked parkinsonism-spasticity syndrome
OMIM:301045
  • congenital disorder of glycosylation, type IIr
OMIM:300423
  • syndromic X-linked intellectual disability Hedera type
ORPHA:93952
  • syndromic X-linked intellectual disability Hedera type

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024