AVPR2 wt Allele

Preferred Label : AVPR2 wt Allele;

NCIt synonyms : DIR; Arginine Vasopressin Receptor 2 (Nephrogenic Diabetes Insipidus) Gene; V2R; DI1; ADHR; NDI; Arginine Vasopressin Receptor 2 wt Allele; DIR3;

NCIt definition : Human AVPR2 wild-type allele is located within Xq28 and is approximately 5 kb in length. This allele, which encodes vasopressin V2 receptor protein, is involved in the maintenance of water homeostasis and G protein-coupled receptor signal transduction. When the function of the gene is absent, it results in Nephrogenic Diabetes Insipidus (NDI).;

GenBank Accession Number : NM_000054;

Détails

Origin ID

C51427;

UMLS CUI

C1705508;

OMIM relation
- Arginine vasopressin 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_associated_with_disease
- Diabetes Insipidus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- X: 152691217-152693487 [NCIt concept]
gene_in_chromosomal_location
- Xq28 [NCIt concept]
gene_is_element_in_pathway
- Arf6 Trafficking Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
- Vasopressin-Regulated Water Reabsorption 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]

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