DRD3 (Dopamine Receptor D3)
A key G protein-coupled receptor in dopaminergic signaling, implicated in neuropsychiatric disorders and cancer.
Gene Information Card
| Symbol | DRD3 |
|---|---|
| Full Name | Dopamine Receptor D3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q13.31 |
| NCBI Gene ID | 1814 ncbi.nlm.nih.gov/gene/1814 |
| Ensembl ID | ENSG00000151577 |
| UniProt ID | P35462 |
| OMIM ID | 126451 |
| HGNC ID | 3024 |
| Aliases | D3DR, ETM1, FET1 |
Description
The DRD3 gene encodes the D3 subtype of the dopamine receptor, a G protein-coupled receptor (GPCR) that inhibits adenylyl cyclase. It is primarily expressed in the limbic system, modulating neurotransmission, reward, and motor control. Genetic variants in DRD3 are associated with schizophrenia, tardive dyskinesia, substance dependence, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | DRD3 Ser9Gly (rs6280) variant alters receptor affinity for dopamine, influencing antipsychotic response and disease susceptibility. | ClinVar, OMIM |
| Tardive Dyskinesia | The Ser9Gly polymorphism is linked to increased risk of tardive dyskinesia in patients on long-term antipsychotic treatment. | ClinVar, OMIM |
| Substance Use Disorder | DRD3 variants modulate dopamine signaling in reward pathways, affecting vulnerability to addiction. | NCBI Gene, OMIM |
| Parkinson's Disease | DRD3 expression changes in striatum contribute to motor complications and dyskinesia in Parkinson's disease. | NCBI Gene, OMIM |
| Breast Cancer | DRD3 overexpression promotes tumor cell proliferation via MAPK/ERK signaling; associated with poor prognosis. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (nucleus accumbens) | 12.5 | High |
| Brain (caudate) | 10.2 | High |
| Brain (putamen) | 9.8 | High |
| Brain (frontal cortex) | 6.1 | Medium |
| Pituitary gland | 4.3 | Medium |
| Adrenal gland | 2.1 | Low |
| Placenta | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| SK-N-SH (neuroblastoma) | 7.2 | Neuronal model |
| MCF7 (breast cancer) | 5.4 | Hormone-responsive |
| HEK293 (embryonic kidney) | 2.3 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Ser9Gly (rs6280) | missense | 30-40% in European populations | Alters dopamine binding affinity; associated with neuropsychiatric disorders |
| Gly72Ser (rs3732790) | missense | <1% | Rare; functional impact unknown |
| c.1102C>T (p.Arg368*) | nonsense | <0.1% | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., Arg368*) and frameshift variants that truncate the receptor or impair G protein coupling.
Gain of Function (GOF)
Ser9Gly variant may enhance dopamine affinity and signaling in certain cellular contexts.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with wild-type receptor dimerization.
View complete mutation data：
Gene Ontology (GO)
| • G protein-coupled receptor activity (GO:0004930) | • dopamine neurotransmitter receptor activity (GO:0004952) |
| • adenylate cyclase inhibiting pathway (GO:0007193) | • dopaminergic (GO:0001963) |
| • response to cocaine (GO:0042220) |
Pathways
• Dopaminergic synapse (KEGG: hsa04728)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• cAMP signaling pathway (KEGG: hsa04024)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
The dopamine receptor D3 is a 400-amino acid integral membrane protein with seven transmembrane domains. It couples to Gi/Go proteins, inhibiting adenylyl cyclase and reducing cAMP levels. D3 receptors are enriched in limbic brain regions and modulate reward, motivation, and motor control. The Ser9Gly polymorphism (rs6280) in the N-terminal domain is the most studied variant, affecting receptor function and disease risk. DRD3 is also implicated in tumorigenesis, particularly in breast cancer, where it activates mitogenic signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DRD3 Knockout HEK293 Cell Line | EDJ-KQ2726 | Human | 1814 | Details Get a Quote |
| TDRD3 Knockout HEK293 Cell Line | EDJ-KQ9710 | Human | 81550 | Details Get a Quote |
| TDRD3 Knockout A-549 Cell Line | EDJ-KQ36494 | Human | 81550 | Details Get a Quote |
| TDRD3 Knockout HCT 116 Cell Line | EDJ-KQ36495 | Human | 81550 | Details Get a Quote |
| TDRD3 Knockout HeLa Cell Line | EDJ-KQ36496 | Human | 81550 | Details Get a Quote |
| DRD3 Knockout HeLa Cell Line | EDJ-KQ53115 | Human | 1814 | Details Get a Quote |
| DRD3 Knockout A-549 Cell Line | EDJ-KQ61588 | Human | 1814 | Details Get a Quote |
| DRD3 Knockout HCT 116 Cell Line | EDJ-KQ70078 | Human | 1814 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
