DRD5 wt Allele

Preferred Label : DRD5 wt Allele;

NCIt synonyms : Dopamine Receptor D1B Gene; DRD1L2 Gene; Dopamine Receptor D5 wt Allele; D(5) Dopamine Receptor Gene; DRD1B Gene; D(1B) Dopamine Receptor Gene; DBDR Gene; D1beta Dopamine Receptor Gene;

NCIt definition : Human DRD5 wild-type allele is located in the vicinity of 4p16.1 and is approximately 2 kb in length. This allele, which encodes D(1B) dopamine receptor protein, plays a role in the stimulation of adenylate cyclase activity and intracellular accumulation of cAMP. Defects in DRD5 are a cause of blepharospasm, a primary focal dystonia affecting the orbicularis oculi muscles.;

GenBank Accession Number : NM_000798;

Détails

Origin ID

C51442;

UMLS CUI

C1707624;

OMIM relation
- Dopamine receptor D5 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 4: 9459872-9461902 [NCIt concept]
gene_in_chromosomal_location
- 4p16.1 [NCIt concept]
gene_is_element_in_pathway
- Calcium-Mediated Signaling Pathway [NCIt concept]
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

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