PROKR2 wt Allele

Preferred Label : PROKR2 wt Allele;

NCIt synonyms : HH3; dJ680N4.3; GPRg2; PKR2; GPR73b; Prokineticin Receptor 2 wt Allele; KAL3; Kallmann Syndrome 3 (Autosomal Dominant) Gene; GPR73L1;

NCIt definition : Human PROKR2 wild-type allele is located in the vicinity of 20p12.3 and is approximately 15 kb in length. This allele, which encodes prokineticin receptor 2 protein, plays a role in ligand-dependent G protein-coupled receptor signaling. Mutation of the gene is associated with hypogonadotropic hypogonadism 3 with or without anosmia.;

GenBank Accession Number : AL121755;

Details

Origin ID

C118610;

UMLS CUI

C3890896;

Automatic exact mappings (from CISMeF team)
- Hypogonadotropic hypogonadism 3 with or without anosmia [OMIM Phenotype]
- Prokineticin receptor 2 [OMIM gene]
- prokineticin receptor 2 [ORDO Gene]
OMIM relation
- Prokineticin receptor 2 [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_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Growth Factor Binding [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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