P2RY8 wt Allele

Preferred Label : P2RY8 wt Allele;

NCIt synonyms : RP11-261P4.4; P2Y Receptor Family Member 8 wt Allele; MGC50878; P2Y8; Pyrimidinergic Receptor P2Y, G Protein-Coupled, 8 Gene; Purinergic Receptor P2Y, G-Protein Coupled, 8 Gene;

NCIt definition : Human P2RY8 wild-type allele is located in the vicinity of Xp22.33 and Yp11.3 and is approximately 75 kb in length. This allele, which encodes P2Y purinoceptor 8 protein, is involved in G-protein coupled receptor signaling. A chromosomal deletion in the pseudoautosomal region 1 of either chromosome X or Y causing fusion of this gene with the CRLF2 gene is associated with B-cell acute lymphoblastic leukemia. Two pericentric inversions of the X chromosome inv(X)(q13;p22) and inv(X)(p22.3;q13.2) disrupt the gene and are associated with mental retardation.;

GenBank Accession Number : AA804531;

Details

Origin ID

C97684;

UMLS CUI

C3273564;

OMIM relation
- Pyrimidinergic receptor p2y, g protein-coupled, 8 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp22.33 [NCIt concept]
- Yp11.3 [NCIt concept]
gene_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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