DRD2 dopamine receptor D2
Gene ID: 1813, updated on 18-Sep-2024Gene type: protein coding
Also known as: D2R; D2DR
- See all available tests in GTR for this gene
- Go to complete Gene record for DRD2
- Go to Variation Viewer for DRD2 variants
Summary
This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. GeneReviews: Not available | |
| Genome-wide association with select biomarker traits in the Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide meta-analysis of systolic blood pressure in children with sickle cell disease. GeneReviews: Not available | |
| Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia. GeneReviews: Not available |
Genomic context
- Location:
- 11q23.2
- Sequence:
- Chromosome: 11; NC_000011.10 (113409605..113475398, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DRD2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DRD2 database
- 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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