ATP6AP2 wt Allele

Preferred Label : ATP6AP2 wt Allele;

NCIt synonyms : ATPase, H Transporting, Lysosomal Accessory Protein Gene; ATP6IP2; ATPase H Transporting Accessory Protein 2 wt Allele; M8-9; RENR; PSEC0072; ATPase, H Transporting, Lysosomal Interacting Protein 2 Gene; XPDS; APT6M8-9; ELDF10; ATP6M8-9; PRR; MRXE; ATPase, H Transporting, Lysosomal (Vacuolar Proton Pump) Membrane Sector Associated Protein M8-9 Gene; MSTP009; CAPER; M8-9, Bovine, Homolog of Gene; CDG2R; XMRE; MRXSH; HT028;

NCIt definition : Human ATP6AP2 wild-type allele is located in the vicinity of Xp11.4 and is approximately 27 kb in length. This allele, which encodes renin receptor protein, is involved in angiotensin processing and lysosome acidification. Missense mutations in the gene are associated with congenital disorder of glycosylation type 2R and splicing mutations are associated with X-linked, Hedera type syndromic mental retardation and X-linked Parkinsonism with spasticity.;

NCI Metathesaurus CUI : CL1647953;

GenBank Accession Number : AF248966;

Details

Origin ID

C178260;

UMLS CUI

C5551025;

Automatic exact mappings (from CISMeF team)
- ATPase H+ transporting accessory protein 2 [ORDO Gene]
- Atpase, h+ transporting, lysosomal, accessory protein 2 [OMIM gene]
- Congenital disorder of glycosylation, type iir [OMIM Phenotype]
- Intellectual developmental disorder, X-linked, syndromic, hedera type [OMIM Phenotype]
- Nectin cell adhesion molecule 1 [OMIM gene]
- Parkinsonism with spasticity, X-linked [OMIM Phenotype]
- Renin [LOINC component]
- Rna-binding motif protein 39 [OMIM gene]
- X-linked intellectual disability, Hedera type [ORDO Disease]
- X-linked parkinsonism-spasticity syndrome [ORDO Disease]
- X-linked parkinsonism-spasticity syndrome [DO Concept]
- capers [MeSH concept]
- capparis [MeSH Descriptor]
- chymosin [MeSH Descriptor]
- nectin cell adhesion molecule 1 [ORDO Gene]
- pattern recognition receptor [COVID-19 Thesaurus concept]
- pattern recognition receptor activity [GO term]
- renin [MeSH Descriptor]
- syndromic X-linked intellectual disability Hedera type [DO Concept]
OMIM relation
- Atpase, h+ transporting, lysosomal, accessory protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Granular Cell Tumor [NCIt concept]
gene_is_element_in_pathway
- Renin-Angiotensin Pathway [NCIt concept]
- Wnt Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Proton Pump Interaction [NCIt concept]
- Receptor Signaling [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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