D(4) Dopamine Receptor

Preferred Label : D(4) Dopamine Receptor;

NCIt synonyms : D(2C) Dopamine Receptor; Dopamine Receptor D4; D4DR; DRD4 Protein; DRD4; Dopamine D4 Receptor; Dopamine Receptor-D4;

NCIt definition : D(4) dopamine receptor (467 aa, 48 kDa) is encoded by the human DRD4 gene. This protein is involved in G protein-coupled receptor signaling and neurotransmitter binding.;

NCIt note : Dopamine Receptor D4, encoded by the human DRD4 gene, is a G-protein coupled receptor that inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. DRD4 is one of the most variable human genes known. Most of this diversity is the result of length and single-nucleotide polymorphism (SNP) variation in a 48-bp VNTR in exon 3, which encodes the third intracellular loop of this dopamine receptor. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking.;

Details

Origin ID

C26121;

UMLS CUI

C1529457;

Currated CISMeF NLP mapping
- receptors, dopamine D4 [MeSH concept]
- receptors, dopamine d4 [MeSH Descriptor]
OMIM relation
- Dopamine receptor d4 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Receptor [UMLS semantic type]
UMLS correspondences (same concept)
- DRD4 protein, human [MeSH concept]
- DRD4 protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DRD4 Gene [NCIt concept]
- G Protein-Coupled Receptor Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- Receptor Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
gene_product_has_biochemical_function
- Cell Surface Receptor [NCIt concept]
- Guanine Nucleotide Exchange Factor [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_is_element_in_pathway
- Neuroactive Ligand-Receptor Signaling Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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