DRD4 Chromosome 11
Dopamine receptor D4
Upload your DNA to see your personal genotypes for variants in DRD4.
What This Gene Does
This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. 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. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dopamine receptors
Locus Type
gene with protein product
Location
11p15.5
Ensembl
ENSG00000069696
Associated Conditions (2)
Hereditary attention deficit-hyperactivity disorder
DRD4-related disorder
Key Variants
RS1256049181
Conflicting classifications of pathogenicity
Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
Health Risk
RS547842677
Conflicting classifications of pathogenicity
Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
Health Risk
RS769762387
Conflicting classifications of pathogenicity
Hereditary attention deficit-hyperactivity disorder, DRD4-related disorder, Hereditary attention deficit-hyperactivity disorder
Health Risk
RS866686536
Conflicting classifications of pathogenicity
Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
Health Risk
RS750696928
Likely pathogenic
Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1256049181 | Health Risk | Conflicting classifications of pathogenicity | Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder |
| RS547842677 | Health Risk | Conflicting classifications of pathogenicity | Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder |
| RS769762387 | Health Risk | Conflicting classifications of pathogenicity | Hereditary attention deficit-hyperactivity disorder, DRD4-related disorder, Hereditary attention deficit-hyperactivity disorder |
| RS866686536 | Health Risk | Conflicting classifications of pathogenicity | Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder |
| RS750696928 | Health Risk | Likely pathogenic | Hereditary attention deficit-hyperactivity disorder, Hereditary attention deficit-hyperactivity disorder |