P2RX2 wt Allele

Preferred Label : P2RX2 wt Allele;

NCIt synonyms : Purinergic Receptor P2X, Ligand Gated Ion Channel, 2 Gene; DFNA41; P2X Receptor, Subunit 2 Gene; Deafness, Autosomal Dominant 41 Gene; P2X2; Purinergic Receptor P2X, Ligand-Gated Ion Channel, 2 Gene; Purinergic Receptor P2X 2 wt Allele;

NCIt definition : Human P2RX2 wild-type allele is located in the vicinity of 12q24.33 and is approximately 4 kb in length. This allele, which encodes P2X purinoceptor 2 protein, is involved in ligand-gated ion channel-dependent neurotransmission. Mutation of the gene is associated with autosomal dominant deafness 41.;

NCI Metathesaurus CUI : CL1926439;

GenBank Accession Number : AF109387;

Details

Origin ID

C204159;

UMLS CUI

C5890853;

OMIM relation
- Purinergic receptor p2x, ligand-gated ion channel, 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Taste Transduction Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Homeostasis [NCIt concept]
- Gustation [NCIt concept]
- Hearing [NCIt concept]
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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