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)
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 1 - 10 of 73 in total
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
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