DRD3 dopamine receptor D3
Gene ID: 1814, updated on 11-Apr-2024Gene type: protein coding
Also known as: D3DR; ETM1; FET1
- See all available tests in GTR for this gene
- Go to complete Gene record for DRD3
- Go to Variation Viewer for DRD3 variants
Summary
This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. GeneReviews: Not available | |
| Genome-wide association study of the five-factor model of personality in young Korean women. GeneReviews: Not available | |
| Schizophrenia | See labs |
| Tremor, hereditary essential, 1 | See labs |
Genomic context
- Location:
- 3q13.31
- Sequence:
- Chromosome: 3; NC_000003.12 (114127580..114199407, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DRD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DRD3 homepage - LOVD - Australian Human Variome Project
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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