Aliases for DRD4 Gene
Aliases for DRD4 Gene
External Ids for DRD4 Gene
- HGNC: 3025
- Entrez Gene: 1815
- Ensembl: ENSG00000069696
- OMIM: 126452
- UniProtKB: P21917
Previous GeneCards Identifiers for DRD4 Gene
- GC11P001092
- GC11M000923
- GC11M000559
- GC11P000627
- GC11P000452
- GC11P000638
- GC11P000646
- GC11P000653
- GC11P000656
- GC11P000644
- GC11P000645
- GC11P000647
- GC11P000649
- GC11P000650
- GC11P000652
- GC11P000655
- GC11P000657
Summaries for DRD4 Gene
-
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]
GeneCards Summary for DRD4 Gene
DRD4 (Dopamine Receptor D4) is a Protein Coding gene. Diseases associated with DRD4 include Attention Deficit-Hyperactivity Disorder and Autonomic Nervous System Disease. Among its related pathways are GPCRs, Other and Monoamine GPCRs. Gene Ontology (GO) annotations related to this gene include G-protein coupled receptor activity and SH3 domain binding. An important paralog of this gene is DRD3.
UniProtKB/Swiss-Prot for DRD4 Gene
-
Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs (PubMed:9003072, PubMed:16423344, PubMed:27659709, PubMed:29051383). Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase (PubMed:7512953, PubMed:7643093, PubMed:16423344, PubMed:27659709, PubMed:29051383). Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity).
-
D4 receptors are members of the dopamine receptor G-protein-coupled receptor family that also includes D1, D2, D3 and D5. They are located primarily in the frontal cortex, midbrain, amygdala and the cardiovascular system. A role in cognition and emotion has been proposed.
Additional gene information for DRD4 Gene
- Monarch Initiative
- Search for DRD4 at DataMed
- Search for DRD4 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DRD4 Gene
Genomics for DRD4 Gene
GeneHancer (GH) Regulatory Elements for DRD4 Gene
Promoters and enhancers for DRD4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around DRD4 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DRD4 gene promoter:
-
- Sp1
- p300
- C/EBPalpha
Regulatory Element Products
Genomic Locations for DRD4 Gene
Genomic Locations for DRD4 Gene
- chr11:637,293-640,706
- (GRCh38/hg38)
- Size:
- 3,414 bases
- Orientation:
- Plus strand
- chr11:637,293-640,706
- (GRCh37/hg19)
- Size:
- 3,414 bases
- Orientation:
- Plus strand
Genomic View for DRD4 Gene
Genes around DRD4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11p15.5 by Entrez Gene
- 11p15.5 by HGNC
- 11p15.5 by Ensembl
DRD4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DRD4 Gene
Proteins for DRD4 Gene
-
Protein details for DRD4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P21917-DRD4_HUMAN
- Recommended name:
- D(4) dopamine receptor
- Protein Accession:
- P21917
- B0M0J7
- Q7Z7Q5
- Q8NGM5
Protein attributes for DRD4 Gene
- Size:
- 467 amino acids
- Molecular mass:
- 48361 Da
- Quaternary structure:
-
- Forms homo- and heterooligomers with DRD2. D4.7 allele exhibits higher affinity for homodimers compared to DRD2 heterodimers, while alleles D42. and 4.4 have similar affinities for both. The interaction with DRD2 may modulate agonist-induced downstream signaling (PubMed:21184734). Interacts with CLIC6 (By similarity). Interacts with GPRASP1 (PubMed:12142540). May interact with ADORA2A (PubMed:20836733). Interacts with KLHL12 (PubMed:18303015).
- SequenceCaution:
-
- Sequence=AAL58637.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for DRD4 Gene
Post-translational modifications for DRD4 Gene
- Polyubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex: polyubiquitination does not lead to degradation of DRD4 protein.
- Palmitoylated. Palmitoylation of the C-terminal Cys is important for normal expression at the cell membrane.
- Glycosylation at posLast=33
- Modification sites at PhosphoSitePlus
Other Protein References for DRD4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for DRD4
- Novus Biologicals Antibodies for DRD4
-
Abcam antibodies for DRD4
- Invitrogen Antibodies for DRD4 (AFLGC-DRD4)
- GeneTex DRD4 Antibody for DRD4
-
Boster Bio Antibodies for DRD4
-
Santa Cruz Biotechnology (SCBT) Antibodies for DRD4
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for DRD4
- Origene Custom Protein Services for DRD4
- Search GeneTex for Proteins for DRD4
No data available for DME Specific Peptides for DRD4 Gene
Domains & Families for DRD4 Gene
Gene Families for DRD4 Gene
- HGNC:
- IUPHAR :
- Human Protein Atlas (HPA):
-
- FDA approved drug targets
- G-protein coupled receptors
- Predicted membrane proteins
Protein Domains for DRD4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DRD4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P21917- Family:
-
- Belongs to the G-protein coupled receptor 1 family.
Function for DRD4 Gene
Molecular function for DRD4 Gene
- UniProtKB/Swiss-Prot Function:
- Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs (PubMed:9003072, PubMed:16423344, PubMed:27659709, PubMed:29051383). Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase (PubMed:7512953, PubMed:7643093, PubMed:16423344, PubMed:27659709, PubMed:29051383). Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Signaling in response to agonists such as dopamine, epinephrine and norepinephrine is modulated by Na(+); lower Na(+) levels result in higher receptor activity (in vitro).
- GENATLAS Biochemistry:
- dopamine receptor D4,with high affinity for antagonist clozapine,G protein coupled receptor superfamily,not imprinted in the human brain (putatively involved in the susceptibility to Gilles de la Tourette syndrome),and a wide range of neuropsychiatric disorders and normal behavioural variation
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001591 | dopamine neurotransmitter receptor activity, coupled via Gi/Go | ISS,IMP | -- |
| GO:0004871 | obsolete signal transducer activity | IEA | -- |
| GO:0004930 | G-protein coupled receptor activity | IEA | -- |
| GO:0004952 | dopamine neurotransmitter receptor activity | IDA | 8413587 |
| GO:0005515 | protein binding | IPI | 12297500 |
Phenotypes for DRD4 Gene
- MGI mutant phenotypes for DRD4:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for DRD4:
-
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased viability in esophageal squamous lineage
- Increased shRNA abundance (Z-score > 2)
- Increased Nanog expression
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DRD4
-
CRISPR Products
-
OriGene CRISPR knockouts for DRD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DRD4
- genomics-online: gRNA clones - Search results for 71 available DRD4 gene related products
- Overview of 71 available DRD4 gene related products
- Applied Biological Materials CRISPR for DRD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DRD4
- GenScript: Design CRISPR guide RNA sequences for DRD4
miRNA for DRD4 Gene
- miRTarBase miRNAs that target DRD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DRD4
- Browse OriGene Inhibitory RNA Products For DRD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRD4
- genomics-online: shRNA clones - Search results for 71 available DRD4 gene related products
- Overview of 71 available DRD4 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DRD4
- Addgene plasmids for DRD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DRD4
- Applied Biological Materials Clones for DRD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DRD4
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DRD4 Gene
Localization for DRD4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DRD4 Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0005887 | integral component of plasma membrane | IDA | 8413587 |
| GO:0016020 | membrane | IDA | 7512953 |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0098794 | postsynapse | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DRD4 Gene
Pathways & Interactions for DRD4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Monoamine GPCRs |
.75
|
|
| 3 | Signaling by GPCR | ||
| 4 | Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics | ||
| 5 | Circadian entrainment | ||
Pathways by source for DRD4 Gene
6 BioSystems pathways for DRD4 Gene
8 Reactome pathways for DRD4 Gene
1 PharmGKB pathway for DRD4 Gene
2 KEGG pathways for DRD4 Gene
2 Qiagen pathways for DRD4 Gene
Interacting Proteins for DRD4 Gene
Selected Interacting proteins:
P21917-DRD4_HUMAN
ENSP00000176183
for DRD4 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for DRD4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000187 | activation of MAPK activity | IDA | 9843378 |
| GO:0001662 | behavioral fear response | NAS | 12860355 |
| GO:0001975 | response to amphetamine | ISS,IEA | -- |
| GO:0006874 | cellular calcium ion homeostasis | IC | 7921596 |
| GO:0007165 | signal transduction | IEA | -- |
No data available for SIGNOR curated interactions for DRD4 Gene
Drugs & Compounds for DRD4 Gene
(202) Drugs for DRD4 Gene - From: DrugBank, ClinicalTrials, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dopamine | Approved | Pharma | Full agonist, Agonist, agonist, Target | 4008 | ||
| Clozapine | Approved | Pharma | Antagonist, Positive, Allosteric regulator, Full agonist, Agonist, Inverse agonist, antagonist, Target | Antipsychotic medication | 121 | |
| Apomorphine | Approved, Investigational | Pharma | Antagonist, Partial agonist, Agonist, Full agonist, Activation, Activator, agonist, Target | 40 | ||
| Pramipexole | Approved, Investigational | Pharma | Full agonist, Agonist, agonist, Target | Dopamine agonist | 140 | |
| Bromocriptine | Approved, Investigational | Pharma | Antagonist, Full agonist, Agonist, Partial agonist, agonist, Target, antagonist | 33 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| SKF-82526 |
|
Full agonist, Agonist |
|
|||
| Promazine 5-sulfoxide |
|
(5) Tocris Compounds for DRD4 Gene
| Compound | Action | Cas Number |
|---|---|---|
| A 412997 dihydrochloride | Selective D4 agonist | 1347744-96-0 |
| ABT 724 trihydrochloride | Potent, selective D4 partial agonist; proerectile | 587870-77-7 |
| PD 168077 maleate | High affinity, selective D4 agonist | 630117-19-0 |
| PNU 96415E | D4 and 5-HT2A antagonist; antipsychotic | 170856-41-4 |
| Ro 10-5824 dihydrochloride | Selective D4 receptor partial agonist | 189744-94-3 |
Drug Products
Transcripts for DRD4 Gene
mRNA/cDNA for DRD4 Gene
- (1) REFSEQ mRNAs :
- (3) Additional mRNA sequences :
- (22) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000176183 1375 bps (uc001lqp.3)
- ENST00000528733 361 bps (uc057xjh.1)
CRISPR Products
-
OriGene CRISPR knockouts for DRD4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DRD4
- genomics-online: gRNA clones - Search results for 71 available DRD4 gene related products
- Overview of 71 available DRD4 gene related products
- Applied Biological Materials CRISPR for DRD4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DRD4
- GenScript: Design CRISPR guide RNA sequences for DRD4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DRD4
- Browse OriGene Inhibitory RNA Products For DRD4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DRD4
- genomics-online: shRNA clones - Search results for 71 available DRD4 gene related products
- Overview of 71 available DRD4 gene related products
Clone Products
- Sino Biological Human cDNA Clone for DRD4
- Addgene plasmids for DRD4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DRD4
- Applied Biological Materials Clones for DRD4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for DRD4 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Eye (Sensory Organs)
- AII Amacrine Cells Inner Nuclear Layer
- Mature Ganglion Cells Ganglion Cell Layer
- Mature Rod Cells Outer Nuclear Layer
-
Neurons
- AII Amacrine Cells Inner Nuclear Layer
- Mature Ganglion Cells Ganglion Cell Layer
- Mature Rod Cells Outer Nuclear Layer
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
- Brain (Nervous System)
-
Limb (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
- Neural Ectoderm (Nervous System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
This gene is overexpressed in Retina (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DRD4 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DRD4 Gene:
DRD4SOURCE GeneReport for Unigene cluster for DRD4 Gene:
Hs.99922mRNA Expression by UniProt/SwissProt for DRD4 Gene:
P21917-DRD4_HUMAN
Tissue specificity:
Highly expressed in retina. Detected at much lower levels in brain, in amygdala, thalamus, hypothalamus, cerebellum and pituitary.
Evidence on tissue expression from TISSUES for DRD4 Gene
- Nervous system(4.5)
- Gall bladder(4.1)
- Intestine(4.1)
Primer Products
-
OriGene qPCR primer pairs for DRD4
-
OriGene qPCR primer pairs and template standards for DRD4
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for DRD4 Gene
Orthologs for DRD4 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DRD4 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Drd4 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Drd4 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DRD4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DRD4 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DRD4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | drd4 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6249 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | drd4a 34 33 |
|
OneToMany | |
| drd4b 34 |
|
OneToMany | |||
| drd4-rs 34 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | GPRDOP3 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | D2R 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | dop-3 34 |
|
ManyToMany | |
| dop-2 34 |
|
ManyToMany |
- Species where no ortholog for DRD4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- cow (Bos Taurus)
- dog (Canis familiaris)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for DRD4 Gene
- ENSEMBL:
- Gene Tree for DRD4 (if available)
- TreeFam:
- Gene Tree for DRD4 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DRD4: view image
Paralogs for DRD4 Gene
Paralogs for DRD4 Gene
(1) SIMAP similar genes for DRD4 Gene using alignment to 81 proteins:
- DRD4_HUMAN
- A4LB49_HUMAN
- A4LB54_HUMAN
- A4LB56_HUMAN
- A4LBB9_HUMAN
- F6K0T3_HUMAN
- F6K0T7_HUMAN
- F6K0T8_HUMAN
- F6K0T9_HUMAN
- F6K0U0_HUMAN
- G5CTX6_HUMAN
- G9HV62_HUMAN
- G9HV63_HUMAN
- G9HV64_HUMAN
- G9HV65_HUMAN
- K9MAQ3_HUMAN
- K9MAQ4_HUMAN
- K9MAQ5_HUMAN
- K9MAU6_HUMAN
- K9MAU8_HUMAN
- K9MAZ0_HUMAN
- K9MAZ1_HUMAN
- K9MB44_HUMAN
- K9MB45_HUMAN
- K9MB71_HUMAN
- K9MB72_HUMAN
- Q0MTB8_HUMAN
- Q0MTB9_HUMAN
- Q76E76_HUMAN
- Q8IZB1_HUMAN
- Q8IZB2_HUMAN
- Q8IZB3_HUMAN
- Q8IZB4_HUMAN
- Q8IZB5_HUMAN
- Q8IZB6_HUMAN
- Q8IZB7_HUMAN
- Q8IZB8_HUMAN
- Q8IZB9_HUMAN
- Q8IZC0_HUMAN
- Q8WTQ0_HUMAN
- Q8WTQ5_HUMAN
- Q8WTR3_HUMAN
- Q8WTR5_HUMAN
- Q8WTR9_HUMAN
- Q8WTS5_HUMAN
- Q8WTS7_HUMAN
- Q8WTT3_HUMAN
- Q8WTT6_HUMAN
- Q8WTT7_HUMAN
- Q8WXL5_HUMAN
- Q8WXL6_HUMAN
- Q8WXL7_HUMAN
- Q8WXL8_HUMAN
- Q8WXL9_HUMAN
- Q8WXM0_HUMAN
- Q8WXM1_HUMAN
- Q8WXM3_HUMAN
- Q8WXM4_HUMAN
- Q8WXM5_HUMAN
- Q8WXM6_HUMAN
- Q8WXM7_HUMAN
- Q8WXM8_HUMAN
- Q8WXM9_HUMAN
- Q8WXN0_HUMAN
- Q8WXN1_HUMAN
- Q8WXN2_HUMAN
- Q8WXN3_HUMAN
- Q8WXN4_HUMAN
- Q8WXN5_HUMAN
- Q8WXN6_HUMAN
- Q8WXN7_HUMAN
- Q8WXN8_HUMAN
- Q8WXN9_HUMAN
- Q8WXP0_HUMAN
- Q8WXP1_HUMAN
- Q8WXP2_HUMAN
- Q8WXP3_HUMAN
- Q8WXP4_HUMAN
- Q8WXP5_HUMAN
- Q8WXP6_HUMAN
- Q8WXP7_HUMAN
Variants for DRD4 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for DRD4 Gene
- DRD4_HUMAN-P21917
- The number of repeats of 16 amino acids in the third cytoplasmic loop is highly polymorphic and varies among different alleles. Alleles corresponding in size to a 2 (D4.2), 3 (D4.3), 4 (D4.4), 5 (D4.5), 6 (D4.6), 7 (D4.7) and 9 (D4.9) repeats have been described. The sequence shown is that of allele D4.7. The polymorphic repeat sequence has little influence on DRD4-binding profiles and might not be essential for G protein interaction.
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1800443 | benign, DOPAMINE RECEPTOR D4 POLYMORPHISM | 639,830(+) | T/G | coding_sequence_variant, missense_variant | |
| rs886039342 | uncertain-significance, not specified | 640,417(+) | CT/GG | coding_sequence_variant, missense_variant | |
| rs200996360 | benign, not provided | 640,253(+) | C/G | coding_sequence_variant, missense_variant | |
| rs1000155908 | -- | 638,474(+) | C/T | intron_variant | |
| rs1000497897 | -- | 639,910(+) | C/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1522n54 | CNV | loss | 21841781 |
| dgv1523n54 | CNV | gain | 21841781 |
| dgv182e199 | CNV | deletion | 23128226 |
| esv2743857 | CNV | deletion | 23290073 |
| esv2759794 | CNV | loss | 17122850 |
| esv2762889 | CNV | loss | 21179565 |
| nsv1039558 | CNV | gain | 25217958 |
| nsv1053964 | CNV | gain | 25217958 |
| nsv1069992 | CNV | deletion | 25765185 |
| nsv1159791 | CNV | deletion | 26073780 |
| nsv467635 | CNV | loss | 19166990 |
| nsv469923 | CNV | loss | 18288195 |
| nsv552861 | CNV | loss | 21841781 |
| nsv552866 | CNV | loss | 21841781 |
| nsv832043 | CNV | loss | 17160897 |
| nsv951271 | CNV | deletion | 24416366 |
Gene Damage Index Score:
6.52;
77.71% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DRD4 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for DRD4 Gene
(34) MalaCards diseases for DRD4 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| attention deficit-hyperactivity disorder |
|
|
| autonomic nervous system disease |
|
|
| novelty seeking personality trait |
|
|
| oppositional defiant disorder |
|
|
| pathological gambling |
|
|
Search DRD4 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DRD4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for DRD4 Gene
Publications for DRD4 Gene
- Association of VNTR polymorphisms in the MAOA promoter and DRD4 exon 3 with heroin dependence in male Chinese addicts. (PMID: 20218801) Chien CC … Lung FW (The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 2010) 3 22 44 58
- Dopamine receptor D4 polymorphism predicts the effect of L-DOPA on gambling behavior. (PMID: 19914604) Eisenegger C … Fehr E (Biological psychiatry 2010) 3 22 44 58
- Genetic variants of D2 but not D3 or D4 dopamine receptor gene are associated with rapid onset and poor prognosis of methamphetamine psychosis. (PMID: 19275926) Ujike H … Kuroda S (Progress in neuro-psychopharmacology & biological psychiatry 2009) 3 22 44 58
- Investigation of dopamine receptors in susceptibility to behavioural and psychological symptoms in Alzheimer's disease. (PMID: 19235789) Pritchard AL … Lendon CL (International journal of geriatric psychiatry 2009) 3 22 44 58
- Candidate gene studies of ADHD: a meta-analytic review. (PMID: 19506906) Gizer IR … Waldman ID (Human genetics 2009) 3 22 44 58
Products for DRD4 Gene
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Sources for DRD4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (27) AceView
- (28) ASD
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- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
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- (42) GenAtlas
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- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
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- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
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- (84) Vector BioLabs
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- (91) Illumina
- (92) COMPARTMENTS
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- (96) Addgene
- (97) antibodies-online
- (98) CYP
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- (100) SwitchGear Genomics
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- (102) PathCards
- (103) GeneReviews
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- (105) Taconic Biosciences
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- (114) diseasecard
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- (155) genomics-online
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