DRD4 (dopamine receptor D4) - Rat Genome Database

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Gene: DRD4 (dopamine receptor D4) Homo sapiens
Analyze
Symbol: DRD4
Name: dopamine receptor D4
RGD ID: 736138
HGNC Page HGNC:3025
Description: Enables several functions, including SH3 domain binding activity; catecholamine binding activity; and dopamine neurotransmitter receptor activity, coupled via Gi/Go. Involved in several processes, including G protein-coupled dopamine receptor signaling pathway; arachidonate secretion; and response to histamine. Located in centrosome and plasma membrane. Implicated in several diseases, including Gilles de la Tourette syndrome; antisocial personality disorder; attention deficit hyperactivity disorder; conduct disorder; and substance abuse (multiple). Biomarker of Alzheimer's disease; attention deficit hyperactivity disorder; pervasive developmental disorder; and schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D(2C) dopamine receptor; D(4) dopamine receptor; D4DR; dopamine D4 receptor; dopamine receptor 4; seven transmembrane helix receptor
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811637,269 - 640,706 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11637,269 - 640,706 (+)EnsemblGRCh38hg38GRCh38
GRCh3711637,269 - 640,706 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611627,305 - 630,703 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411627,304 - 630,703NCBI
Celera11702,422 - 705,821 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11452,513 - 456,039 (+)NCBIHuRef
CHM1_111636,234 - 639,634 (+)NCBICHM1_1
T2T-CHM13v2.011685,792 - 689,369 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-butaclamol  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (ISO)
3',5'-cyclic AMP  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP)
bicalutamide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
clozapine  (EXP,ISO)
cocaine  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
decabromodiphenyl ether  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
Dimethylphosphate  (EXP)
dopamine  (EXP,ISO)
dorsomorphin  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fucoxanthin  (EXP)
glyphosate  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
haloperidol  (EXP,ISO)
hydralazine  (EXP)
ketoconazole  (ISO)
L-methionine  (ISO)
maneb  (ISO)
mercaptopurine  (ISO)
mercury atom  (ISO)
mercury dibromide  (EXP)
mercury(0)  (ISO)
methamphetamine  (EXP,ISO)
methylmercury chloride  (EXP)
methylphenidate  (EXP)
morphine  (ISO)
N-(1-benzyl-2-methylpyrrolidin-3-yl)-5-chloro-2-methoxy-4-(methylamino)benzamide  (EXP)
N-Methylspiperone  (ISO)
naloxone  (ISO)
niclosamide  (EXP)
oxidopamine  (ISO)
ozone  (ISO)
paraquat  (ISO)
phenylmercury acetate  (EXP)
picrotoxin  (ISO)
progesterone  (ISO)
purine-6-thiol  (ISO)
pyridaben  (ISO)
quercetin  (ISO)
quinpirole  (ISO)
resveratrol  (EXP)
ropinirole  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium chloride  (ISO)
spiperone  (EXP,ISO)
temozolomide  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenylate cyclase-inhibiting dopamine receptor signaling pathway  (IDA,IEA,IMP,ISO)
adenylate cyclase-modulating G protein-coupled receptor signaling pathway  (IBA)
adult locomotory behavior  (IEA,ISO,ISS)
arachidonate secretion  (IDA)
associative learning  (ISO)
behavioral fear response  (ISO,NAS)
behavioral response to cocaine  (IEA,ISO,ISS)
behavioral response to ethanol  (TAS)
chemical synaptic transmission  (IBA)
circadian rhythm  (ISO)
fear response  (IEA,ISO,ISS)
G protein-coupled dopamine receptor signaling pathway  (ISO)
G protein-coupled receptor signaling pathway  (IEA)
G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  (IBA)
G protein-coupled serotonin receptor signaling pathway  (IEA)
inhibitory postsynaptic potential  (IEA,ISO,ISS)
intracellular calcium ion homeostasis  (IDA)
modulation of inhibitory postsynaptic potential  (ISO)
negative regulation of protein secretion  (IDA)
negative regulation of synaptic transmission  (ISO)
negative regulation of synaptic transmission, GABAergic  (ISO)
negative regulation of vascular associated smooth muscle cell migration  (ISO)
negative regulation of vascular associated smooth muscle cell proliferation  (ISO)
olfactory learning  (ISO)
phospholipase C-activating dopamine receptor signaling pathway  (IDA)
photoperiodism  (ISO)
positive regulation of dopamine uptake involved in synaptic transmission  (IC)
positive regulation of excitatory postsynaptic potential  (ISO)
positive regulation of MAP kinase activity  (IDA)
positive regulation of penile erection  (ISO)
prepulse inhibition  (ISO)
presynaptic modulation of chemical synaptic transmission  (ISO)
regulation of calcium-mediated signaling  (ISO)
regulation of circadian rhythm  (IEA,ISS)
regulation of dopamine metabolic process  (IEA,ISO,ISS)
regulation of neurotransmitter secretion  (ISO)
regulation of postsynaptic membrane neurotransmitter receptor levels  (ISO)
regulation of postsynaptic neurotransmitter receptor internalization  (IEA)
regulation of protein kinase A signaling  (ISO)
response to amphetamine  (IEA,ISO,ISS)
response to epinephrine  (ISO)
response to ethanol  (ISO)
response to histamine  (IDA)
response to light stimulus  (ISO)
response to steroid hormone  (ISO)
response to thyroid hormone  (ISO)
retina development in camera-type eye  (ISO)
rhythmic process  (IEA)
short-term memory  (ISO)
signal transduction  (IEA)
social behavior  (NAS)
synaptic transmission, dopaminergic  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Dopamine D4 receptor repeat: analysis of different native and mutant forms of the human and rat genes. Asghari V, etal., Mol Pharmacol. 1994 Aug;46(2):364-73.
2. No evidence for a major gene effect of the dopamine D4 receptor gene in the susceptibility to Gilles de la Tourette syndrome in five Canadian families. Barr CL, etal., Am J Med Genet. 1996 May 31;67(3):301-5.
3. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Bartholdi D, etal., J Med Genet. 2007 May;44(5):327-33. Epub 2007 Jan 12.
4. The physiology, signaling, and pharmacology of dopamine receptors. Beaulieu JM and Gainetdinov RR, Pharmacol Rev. 2011 Mar;63(1):182-217. doi: 10.1124/pr.110.002642. Epub 2011 Feb 8.
5. A gene x gene interaction between DRD2 and DRD4 is associated with conduct disorder and antisocial behavior in males. Beaver KM, etal., Behav Brain Funct. 2007 Jun 22;3:30.
6. The dopamine D4 receptor gene exon III polymorphism is associated with novelty seeking in 15-year-old males from a high-risk community sample. Becker K, etal., J Neural Transm (Vienna). 2005 Jun;112(6):847-58. Epub 2004 Oct 27.
7. The genetic association database. Becker KG, etal., Nat Genet. 2004 May;36(5):431-2.
8. DRD4 gene variants and sustained attention in attention deficit hyperactivity disorder (ADHD): effects of associated alleles at the VNTR and -521 SNP. Bellgrove MA, etal., Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5;136B(1):81-6.
9. Cognitive impairment and gene expression alterations in a rodent model of binge eating disorder. Chawla A, etal., Physiol Behav. 2017 Oct 15;180:78-90. doi: 10.1016/j.physbeh.2017.08.004. Epub 2017 Aug 15.
10. DRD4 Exon 3 Gene Polymorphisms in Patients Diagnosed with Polysubstance Use Disorder and Co-Occurrence of a Depressive Episode. Chmielowiec K, etal., Genes (Basel). 2021 Nov 20;12(11):1834. doi: 10.3390/genes12111834.
11. The conditioning of intervention effects on early adolescent alcohol use by maternal involvement and dopamine receptor D4 (DRD4) and serotonin transporter linked polymorphic region (5-HTTLPR) genetic variants. Cleveland HH, etal., Dev Psychopathol. 2015 Feb;27(1):51-67. doi: 10.1017/S0954579414001291.
12. Studies of the 48 bp repeat polymorphism of the DRD4 gene in impulsive, compulsive, addictive behaviors: Tourette syndrome, ADHD, pathological gambling, and substance abuse. Comings DE, etal., Am J Med Genet. 1999 Aug 20;88(4):358-68.
13. Increased prevalence of the seven-repeat variant of the dopamine D4 receptor gene in patients with obsessive-compulsive disorder with tics. Cruz C, etal., Neurosci Lett. 1997 Aug 1;231(1):1-4.
14. [Relationship between dopamine D4 receptor gene polymorphisms and primary nocturnal enuresis]. Dai XM, etal., Zhongguo Dang Dai Er Ke Za Zhi. 2008 Oct;10(5):607-10.
15. The association of exon 3 VNTR polymorphism of the dopamine receptor D4 (DRD4) gene with alcoholism in Mexican Americans. Du Y, etal., Psychiatry Res. 2010 May 30;177(3):358-60. doi: 10.1016/j.psychres.2010.02.021. Epub 2010 Apr 1.
16. A haplotype relative risk study of the dopamine D4 receptor (DRD4) exon III repeat polymorphism and attention deficit hyperactivity disorder (ADHD). Eisenberg J, etal., Am J Med Genet. 2000 Jun 12;96(3):258-61.
17. Meta-analysis of the association between the 7-repeat allele of the dopamine D(4) receptor gene and attention deficit hyperactivity disorder. Faraone SV, etal., Am J Psychiatry. 2001 Jul;158(7):1052-7.
18. Dopaminergic regulation of inhibitory and excitatory transmission in the basolateral amygdala-prefrontal cortical pathway. Floresco SB and Tse MT, J Neurosci. 2007 Feb 21;27(8):2045-57.
19. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
20. Differential Susceptibility: The Genetic Moderation of Peer Pressure on Alcohol Use. Griffin AM, etal., J Youth Adolesc. 2015 Oct;44(10):1841-53. doi: 10.1007/s10964-015-0344-7. Epub 2015 Aug 26.
21. [Association analysis of dopamine D4 receptor gene polymorphism and attention deficit hyperactivity disorder with/without disruptive behavior disorder]. Guan LL, etal., Beijing Da Xue Xue Bao. 2007 Jun 18;39(3):233-6.
22. Impulsivity and Concussion in Juvenile Rats: Examining Molecular and Structural Aspects of the Frontostriatal Pathway. Hehar H, etal., PLoS One. 2015 Oct 8;10(10):e0139842. doi: 10.1371/journal.pone.0139842. eCollection 2015.
23. Dopamine receptor D4 gene -521C/T polymorphism is associated with opioid dependence through cold-pain responses. Ho AM, etal., Ann N Y Acad Sci. 2008 Oct;1139:20-6. doi: 10.1196/annals.1432.054.
24. Dopaminergic and noradrenergic gene polymorphisms and response to methylphenidate in korean children with attention-deficit/hyperactivity disorder: is there an interaction? Hong SB, etal., J Child Adolesc Psychopharmacol. 2012 Oct;22(5):343-52. doi: 10.1089/cap.2011.0076.
25. A dyslexia susceptibility locus (DYX7) linked to dopamine D4 receptor (DRD4) region on chromosome 11p15.5. Hsiung GY, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):112-9.
26. Association between the 120-bp duplication of the dopamine D4 receptor gene and attention deficit hyperactivity disorder: genetic and molecular analyses. Kereszturi E, etal., Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):231-6.
27. Immunohistochemical localization of dopamine receptor subtypes (D1R-D5R) in Alzheimer's disease brain. Kumar U and Patel SC, Brain Res. 2007 Feb 2;1131(1):187-96. Epub 2006 Dec 19.
28. Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5. Kustanovich V, etal., Mol Psychiatry 2004 Jul;9(7):711-7.
29. Dopamine D4 receptor gene polymorphism is associated with attention deficit hyperactivity disorder. LaHoste GJ, etal., Mol Psychiatry 1996 May;1(2):121-4.
30. Novelty seeking: interaction between parental alcohol use and dopamine D4 receptor gene exon III polymorphism over 17 years. Lahti J, etal., Psychiatr Genet. 2005 Jun;15(2):133-9. doi: 10.1097/00041444-200506000-00010.
31. Dopamine D4 receptor (DRD4) gene polymorphism is associated with attachment disorganization in infants. Lakatos K, etal., Mol Psychiatry. 2000 Nov;5(6):633-7. doi: 10.1038/sj.mp.4000773.
32. The usefulness of the spontaneously hypertensive rat to model attention-deficit/hyperactivity disorder (ADHD) may be explained by the differential expression of dopamine-related genes in the brain. Li Q, etal., Neurochem Int. 2007 May;50(6):848-57. Epub 2007 Mar 1.
33. Association analysis of polymorphisms in the DRD4 gene and heroin abuse in Chinese subjects. Li T, etal., Am J Med Genet. 2000 Oct 9;96(5):616-21. doi: 10.1002/1096-8628(20001009)96:5<616::aid-ajmg6>3.0.co;2-7.
34. Variable number tandem repeats in dopamine receptor D4 in Tourette's syndrome. Liu S, etal., Mov Disord. 2014 Nov;29(13):1687-91. doi: 10.1002/mds.26027. Epub 2014 Sep 25.
35. Multiple marker analysis at the promoter region of the DRD4 gene and ADHD: evidence of linkage and association with the SNP -616. Lowe N, etal., Am J Med Genet B Neuropsychiatr Genet. 2004 Nov 15;131B(1):33-7.
36. Polymorphisms in the dopamine D4 receptor gene and attention-deficit hyperactivity disorder. Mill J, etal., Neuroreport. 2003 Aug 6;14(11):1463-6.
37. Fibrosis progression in HCV carriers with mild hepatitis who possess the high-repetition variant of the DRD4 gene, a genetic marker for binge-drinking and risk-seeking behavior: a longitudinal study. Minisini R, etal., Alcohol Clin Exp Res. 2013 Jun;37(6):891-5. doi: 10.1111/acer.12047. Epub 2013 Jan 8.
38. A preliminary study of dopamine D4 receptor genotype and structural brain alterations in adults with ADHD. Monuteaux MC, etal., Am J Med Genet B Neuropsychiatr Genet. 2008 Dec 5;147B(8):1436-41. doi: 10.1002/ajmg.b.30870.
39. Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity. Nothen MM, etal., Hum Mol Genet. 1994 Dec;3(12):2207-12.
40. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
41. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
42. Witnessing substance use increases same-day antisocial behavior among at-risk adolescents: Gene-environment interaction in a 30-day ecological momentary assessment study. Russell MA, etal., Dev Psychopathol. 2016 Nov;28(4pt2):1441-1456. doi: 10.1017/S0954579415001182. Epub 2015 Dec 9.
43. Dopamine D4 receptor exon III alleles and variation of novelty seeking in alcoholics. Sander T, etal., Am J Med Genet. 1997 Sep 19;74(5):483-7. doi: 10.1002/(sici)1096-8628(19970919)74:5<483::aid-ajmg5>3.0.co;2-p.
44. Ethanol concentration-dependent alterations in gene expression during acute binge drinking in the HIV-1 transgenic rat. Sarkar S and Chang SL, Alcohol Clin Exp Res. 2013 Jul;37(7):1082-90. doi: 10.1111/acer.12077. Epub 2013 Feb 15.
45. Dopamine D4 receptors elevated in schizophrenia. Seeman P, etal., Nature. 1993 Sep 30;365(6445):441-5.
46. Polymorphisms of the dopamine D4 receptor, clinical outcome, and cortical structure in attention-deficit/hyperactivity disorder. Shaw P, etal., Arch Gen Psychiatry. 2007 Aug;64(8):921-31.
47. Catechol-O-methyltransferase and dopamine receptor D4 gene variants: Possible association with substance abuse in Bangladeshi male. Sonia JA, etal., PLoS One. 2021 Feb 5;16(2):e0246462. doi: 10.1371/journal.pone.0246462. eCollection 2021.
48. Blood pressure and renal sodium handling in relation to genetic variation in the DRD1 promoter and GRK4. Staessen JA, etal., Hypertension. 2008 Jun;51(6):1643-50. doi: 10.1161/HYPERTENSIONAHA.107.109611. Epub 2008 Apr 14.
49. Altered mRNA expression of monoaminergic candidate genes in the blood of children with attention deficit hyperactivity disorder and autism spectrum disorder. Taurines R, etal., World J Biol Psychiatry. 2011 Sep;12 Suppl 1:104-8.
50. Lack of association of dopamine D4 receptor gene polymorphisms with ADHD subtypes in a population sample of twins. Todd RD, etal., Am J Med Genet. 2001 Jul 8;105(5):432-8.
51. Dopamine D4 Receptor Gene Exon III VNTR Variant Influences Smoking Status in Turkish Population. Uysal MA, etal., Noro Psikiyatr Ars. 2019 Oct 4;56(4):248-252. doi: 10.29399/npa.23408. eCollection 2019 Dec.
52. Dopamine D4 receptor gene exon III polymorphism associated with binge drinking attitudinal phenotype. Vaughn MG, etal., Alcohol. 2009 May;43(3):179-84. doi: 10.1016/j.alcohol.2009.02.001.
53. Multivariate analysis of dopaminergic gene variants as risk factors of heroin dependence. Vereczkei A, etal., PLoS One. 2013 Jun 28;8(6):e66592. doi: 10.1371/journal.pone.0066592. Print 2013.
54. Reduction of renal dopamine receptor expression in obese Zucker rats: role of sex and angiotensin II. Wang X, etal., Am J Physiol Renal Physiol. 2010 Nov;299(5):F1164-70. doi: 10.1152/ajprenal.00604.2009. Epub 2010 Sep 1.
55. Dopamine D4 receptors inhibit proliferation and migration of vascular smooth muscle cells induced by insulin via down-regulation of insulin receptor expression. Yu C, etal., Cardiovasc Diabetol. 2014 Jun 2;13:97. doi: 10.1186/1475-2840-13-97.
56. A family-based association study of dopamine receptor D4 and mental retardation in Qinba region of China. Zhang K, etal., Neurosci Lett. 2012 May 10;516(1):1-4. doi: 10.1016/j.neulet.2012.02.017. Epub 2012 Feb 15.
57. Effects of dopamine D4 receptor-selective antagonists on motor hyperactivity in rats with neonatal 6-hydroxydopamine lesions. Zhang K, etal., Psychopharmacology (Berl). 2002 Apr;161(1):100-6. doi: 10.1007/s00213-002-1018-1. Epub 2002 Mar 6.
58. Methylation quantitative locus rs3758653 in the DRD4 gene is associated with duration from first heroin exposure to addiction. Zhang R, etal., Brain Res. 2022 Jan 15;1775:147746. doi: 10.1016/j.brainres.2021.147746. Epub 2021 Dec 2.
Additional References at PubMed
PMID:1319557   PMID:1349574   PMID:1358063   PMID:1840645   PMID:2834384   PMID:7512953   PMID:7726213   PMID:7921596   PMID:8528256   PMID:8741875   PMID:8746407   PMID:8889548  
PMID:9003072   PMID:9457173   PMID:9843378   PMID:10050966   PMID:11054777   PMID:11140838   PMID:11244477   PMID:11244482   PMID:11282178   PMID:11324944   PMID:11353451   PMID:11354829  
PMID:11409696   PMID:11443530   PMID:11449401   PMID:11496369   PMID:11583250   PMID:11684336   PMID:11718085   PMID:11728608   PMID:11756666   PMID:11803441   PMID:11803443   PMID:11866166  
PMID:11901357   PMID:11950104   PMID:11986982   PMID:11992558   PMID:11992560   PMID:12140774   PMID:12142540   PMID:12192615   PMID:12192624   PMID:12192625   PMID:12210280   PMID:12223255  
PMID:12232779   PMID:12297500   PMID:12393313   PMID:12452539   PMID:12497608   PMID:12497614   PMID:12509874   PMID:12556912   PMID:12579508   PMID:12605102   PMID:12606846   PMID:12624717  
PMID:12627471   PMID:12648742   PMID:12650952   PMID:12668354   PMID:12687422   PMID:12729944   PMID:12740593   PMID:12764221   PMID:12773616   PMID:12796525   PMID:12808427   PMID:12808433  
PMID:12860355   PMID:12860364   PMID:12888781   PMID:12898574   PMID:12947560   PMID:13129658   PMID:14499480   PMID:14560322   PMID:14569271   PMID:14581929   PMID:14583797   PMID:14605948  
PMID:14623368   PMID:14634838   PMID:14702261   PMID:14755438   PMID:15044110   PMID:15048652   PMID:15048656   PMID:15048658   PMID:15094785   PMID:15094788   PMID:15102340   PMID:15206004  
PMID:15211638   PMID:15274053   PMID:15288435   PMID:15292670   PMID:15312696   PMID:15319572   PMID:15341274   PMID:15364409   PMID:15383158   PMID:15390060   PMID:15513263   PMID:15519116  
PMID:15522250   PMID:15564898   PMID:15565493   PMID:15578612   PMID:15621215   PMID:15627807   PMID:15627814   PMID:15640766   PMID:15655563   PMID:15662148   PMID:15694263   PMID:15717291  
PMID:15724142   PMID:15738935   PMID:15755724   PMID:15785860   PMID:15839794   PMID:15843770   PMID:15845322   PMID:15860340   PMID:15917720   PMID:15985158   PMID:16086296   PMID:16143039  
PMID:16152802   PMID:16165273   PMID:16167465   PMID:16178930   PMID:16178931   PMID:16182111   PMID:16223700   PMID:16252386   PMID:16272956   PMID:16281377   PMID:16314756   PMID:16316914  
PMID:16319504   PMID:16331654   PMID:16342279   PMID:16344718   PMID:16354504   PMID:16389711   PMID:16424823   PMID:16429431   PMID:16455620   PMID:16472910   PMID:16493876   PMID:16526060  
PMID:16585476   PMID:16619053   PMID:16703401   PMID:16723017   PMID:16736234   PMID:16741944   PMID:16756688   PMID:16760922   PMID:16770765   PMID:16774975   PMID:16781678   PMID:16815339  
PMID:16816977   PMID:16819620   PMID:16822313   PMID:16829780   PMID:16839358   PMID:16874007   PMID:16887146   PMID:16894395   PMID:16917940   PMID:16921721   PMID:16930369   PMID:16945348  
PMID:16996722   PMID:17023870   PMID:17025189   PMID:17028370   PMID:17039480   PMID:17044099   PMID:17052389   PMID:17077808   PMID:17089069   PMID:17109713   PMID:17130883   PMID:17146015  
PMID:17156756   PMID:17157268   PMID:17171657   PMID:17175015   PMID:17175058   PMID:17178609   PMID:17191306   PMID:17214892   PMID:17236545   PMID:17239353   PMID:17309802   PMID:17325714  
PMID:17387332   PMID:17394052   PMID:17406960   PMID:17407504   PMID:17440932   PMID:17440951   PMID:17466074   PMID:17474081   PMID:17474108   PMID:17495196   PMID:17501935   PMID:17508995  
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PMID:17931440   PMID:17948872   PMID:17955457   PMID:17955458   PMID:17970718   PMID:17973921   PMID:18028530   PMID:18063308   PMID:18063936   PMID:18081165   PMID:18094258   PMID:18167517  
PMID:18171914   PMID:18188752   PMID:18191458   PMID:18194028   PMID:18214865   PMID:18232064   PMID:18239643   PMID:18240029   PMID:18270821   PMID:18270970   PMID:18303015   PMID:18330705  
PMID:18331372   PMID:18332898   PMID:18358985   PMID:18361436   PMID:18366720   PMID:18371940   PMID:18379473   PMID:18409686   PMID:18434921   PMID:18446263   PMID:18451638   PMID:18510611  
PMID:18540916   PMID:18544160   PMID:18554167   PMID:18563476   PMID:18577758   PMID:18579277   PMID:18583979   PMID:18603262   PMID:18606032   PMID:18665883   PMID:18676680   PMID:18690117  
PMID:18690118   PMID:18715282   PMID:18715757   PMID:18769827   PMID:18821566   PMID:18826531   PMID:18937842   PMID:19000940   PMID:19017022   PMID:19025233   PMID:19058789   PMID:19092778  
PMID:19105202   PMID:19125104   PMID:19146920   PMID:19156168   PMID:19170196   PMID:19209222   PMID:19219857   PMID:19235789   PMID:19238168   PMID:19251248   PMID:19275926   PMID:19298319  
PMID:19330578   PMID:19333405   PMID:19336242   PMID:19352218   PMID:19364291   PMID:19367581   PMID:19397860   PMID:19409950   PMID:19418498   PMID:19490304   PMID:19493320   PMID:19506906  
PMID:19602428   PMID:19615421   PMID:19625176   PMID:19653907   PMID:19655343   PMID:19672140   PMID:19673036   PMID:19673052   PMID:19692168   PMID:19695183   PMID:19696961   PMID:19713452  
PMID:19717274   PMID:19728374   PMID:19767592   PMID:19772578   PMID:19782129   PMID:19789190   PMID:19818050   PMID:19827313   PMID:19858760   PMID:19874574   PMID:19899572   PMID:19906444  
PMID:19913121   PMID:19914604   PMID:19932171   PMID:19956635   PMID:20001112   PMID:20006992   PMID:20019071   PMID:20021692   PMID:20026092   PMID:20033274   PMID:20038544   PMID:20040103  
PMID:20046398   PMID:20046399   PMID:20090380   PMID:20100572   PMID:20116437   PMID:20146095   PMID:20150884   PMID:20156565   PMID:20164562   PMID:20172533   PMID:20175141   PMID:20203140  
PMID:20205808   PMID:20210499   PMID:20218801   PMID:20336060   PMID:20351714   PMID:20398908   PMID:20407490   PMID:20410729   PMID:20419368   PMID:20421849   PMID:20468064   PMID:20468066  
PMID:20468072   PMID:20473794   PMID:20531939   PMID:20551163   PMID:20593420   PMID:20600463   PMID:20602615   PMID:20610847   PMID:20623607   PMID:20628086   PMID:20629147   PMID:20631684  
PMID:20644990   PMID:20659339   PMID:20661272   PMID:20672519   PMID:20678555   PMID:20685009   PMID:20691427   PMID:20714340   PMID:20729761   PMID:20731709   PMID:20732903   PMID:20736997  
PMID:20801104   PMID:20807239   PMID:20875435   PMID:20954761   PMID:20974815   PMID:21039487   PMID:21063133   PMID:21072167   PMID:21083670   PMID:21106310   PMID:21127031   PMID:21147794  
PMID:21152404   PMID:21166770   PMID:21184734   PMID:21207241   PMID:21216474   PMID:21247255   PMID:21262039   PMID:21320289   PMID:21345343   PMID:21381802   PMID:21387986   PMID:21392174  
PMID:21403674   PMID:21438142   PMID:21469077   PMID:21504541   PMID:21506030   PMID:21516796   PMID:21554498   PMID:21595008   PMID:21603618   PMID:21609749   PMID:21615938   PMID:21637770  
PMID:21766995   PMID:21781348   PMID:21853233   PMID:21873635   PMID:21873960   PMID:21909391   PMID:22051710   PMID:22081881   PMID:22081909   PMID:22111665   PMID:22126256   PMID:22162768  
PMID:22198971   PMID:22203087   PMID:22232964   PMID:22251000   PMID:22271608   PMID:22292056   PMID:22342155   PMID:22345368   PMID:22347363   PMID:22356182   PMID:22392544   PMID:22436571  
PMID:22438994   PMID:22468688   PMID:22497994   PMID:22543114   PMID:22564179   PMID:22584505   PMID:22607734   PMID:22609848   PMID:22617852   PMID:22668826   PMID:22683321   PMID:22691691  
PMID:22723743   PMID:22759790   PMID:22781864   PMID:22848508   PMID:22862680   PMID:22897338   PMID:22930791   PMID:22931814   PMID:23031802   PMID:23034259   PMID:23062296   PMID:23088179  
PMID:23127570   PMID:23209577   PMID:23215759   PMID:23246383   PMID:23252368   PMID:23266246   PMID:23283341   PMID:23314010   PMID:23379386   PMID:23432522   PMID:23445730   PMID:23460366  
PMID:23465625   PMID:23469923   PMID:23522492   PMID:23559284   PMID:23617948   PMID:23627945   PMID:23637880   PMID:23653272   PMID:23717434   PMID:23786683   PMID:23790981   PMID:23796967  
PMID:23808292   PMID:23810146   PMID:23881560   PMID:23962972   PMID:24064458   PMID:24099848   PMID:24102377   PMID:24135011   PMID:24153108   PMID:24162668   PMID:24163823   PMID:24210742  
PMID:24229552   PMID:24264533   PMID:24283216   PMID:24361183   PMID:24391992   PMID:24406443   PMID:24521003   PMID:24585059   PMID:24586542   PMID:24611835   PMID:24630741   PMID:24659022  
PMID:24691022   PMID:24742759   PMID:24747168   PMID:24825354   PMID:24866520   PMID:24929324   PMID:24979719   PMID:25011686   PMID:25062595   PMID:25107677   PMID:25194232   PMID:25212749  
PMID:25233244   PMID:25244120   PMID:25251423   PMID:25262643   PMID:25271118   PMID:25304228   PMID:25319639   PMID:25326467   PMID:25457740   PMID:25481571   PMID:25497692   PMID:25555995  
PMID:25640829   PMID:25640831   PMID:25642918   PMID:25659462   PMID:25660313   PMID:25679126   PMID:25687785   PMID:25736807   PMID:25804664   PMID:25840828   PMID:25854875   PMID:25869327  
PMID:25956290   PMID:26006708   PMID:26037358   PMID:26189764   PMID:26246555   PMID:26307064   PMID:26350252   PMID:26424426   PMID:26427473   PMID:26439067   PMID:26449981   PMID:26595468  
PMID:26595480   PMID:26597879   PMID:26601911   PMID:26613685   PMID:26665568   PMID:26680992   PMID:26688118   PMID:26717573   PMID:26782007   PMID:26897359   PMID:26902782   PMID:26950642  
PMID:26990357   PMID:27045841   PMID:27077527   PMID:27155323   PMID:27170266   PMID:27195896   PMID:27267123   PMID:27268567   PMID:27475724   PMID:27485706   PMID:27494520   PMID:27548745  
PMID:27581946   PMID:27659709   PMID:27726127   PMID:27753212   PMID:27786532   PMID:27815333   PMID:27821512   PMID:27905471   PMID:27992450   PMID:28097219   PMID:28103253   PMID:28138806  
PMID:28176268   PMID:28234207   PMID:28258362   PMID:28282463   PMID:28361337   PMID:28450726   PMID:28727140   PMID:28797200   PMID:28846959   PMID:28876518   PMID:28948080   PMID:29051383  
PMID:29054088   PMID:29145734   PMID:29149620   PMID:29182037   PMID:29221470   PMID:29294665   PMID:29395188   PMID:29455021   PMID:29564731   PMID:30009502   PMID:30035571   PMID:30099719  
PMID:30248905   PMID:30260901   PMID:30364935   PMID:30367264   PMID:30387076   PMID:30411855   PMID:30991630   PMID:31003069   PMID:31149768   PMID:31291235   PMID:31378722   PMID:31447121  
PMID:31719518   PMID:31809838   PMID:31927071   PMID:32032490   PMID:32075956   PMID:32183536   PMID:32583892   PMID:32589693   PMID:32751662   PMID:32814053   PMID:33128845   PMID:33530977  
PMID:33666309   PMID:33784353   PMID:33961781   PMID:34009035   PMID:34121249   PMID:34182128   PMID:34406637   PMID:34710332   PMID:34916545   PMID:35508584   PMID:35532648   PMID:35574658  
PMID:36635358   PMID:37073589   PMID:37080173   PMID:37880658   PMID:37988928   PMID:38361407  


Genomics

Comparative Map Data
DRD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811637,269 - 640,706 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11637,269 - 640,706 (+)EnsemblGRCh38hg38GRCh38
GRCh3711637,269 - 640,706 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611627,305 - 630,703 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411627,304 - 630,703NCBI
Celera11702,422 - 705,821 (+)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11452,513 - 456,039 (+)NCBIHuRef
CHM1_111636,234 - 639,634 (+)NCBICHM1_1
T2T-CHM13v2.011685,792 - 689,369 (+)NCBIT2T-CHM13v2.0
Drd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,871,931 - 140,874,868 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,871,919 - 140,876,377 (+)EnsemblGRCm39 Ensembl
GRCm387141,291,974 - 141,296,464 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,292,006 - 141,296,464 (+)EnsemblGRCm38mm10GRCm38
MGSCv377148,477,905 - 148,480,900 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,143,326 - 141,146,321 (+)NCBIMGSCv36mm8
Celera7141,085,754 - 141,088,749 (+)NCBICelera
Cytogenetic Map7F5NCBI
cM Map786.6NCBI
Drd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,825,937 - 205,829,124 (+)NCBIGRCr8
mRatBN7.21196,396,366 - 196,400,824 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,396,366 - 196,399,553 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,741,809 - 204,744,982 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,868,591 - 211,871,768 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01204,542,729 - 204,545,906 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,278,296 - 214,282,818 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,278,296 - 214,281,483 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,195,844 - 221,200,366 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,485,597 - 201,488,784 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,636,931 - 201,640,119 (+)NCBI
Celera1194,030,237 - 194,033,424 (+)NCBICelera
RH 3.4 Map11437.21RGD
Cytogenetic Map1q41NCBI
Drd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,424,411 - 11,426,960 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,424,347 - 11,426,962 (-)NCBIChiLan1.0ChiLan1.0
DRD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v293,007,058 - 3,019,627 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,222,678 - 2,235,881 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011640,401 - 646,775 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111671,445 - 674,412 (+)NCBIpanpan1.1PanPan1.1panPan2
DRD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1825,378,476 - 25,381,179 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01826,314,100 - 26,316,803 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1826,314,085 - 26,316,803 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11825,823,586 - 25,826,358 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01825,468,566 - 25,471,386 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01826,081,003 - 26,083,706 (+)NCBIUU_Cfam_GSD_1.0
Drd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947468,387 - 471,254 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936888468,403 - 471,205 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936888468,334 - 471,254 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DRD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2398,766 - 402,433 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12398,766 - 401,539 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22272,619 - 275,757 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DRD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11454,018 - 459,582 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603897,516,746 - 97,520,656 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Drd4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,834,169 - 21,836,710 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,834,093 - 21,837,314 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DRD4
119 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000797.4(DRD4):c.235_247del (p.Ala79fs) deletion Autonomic nervous system dysfunction [RCV000018254]|not provided [RCV001573700]|not specified [RCV001727514] Chr11:637537..637549 [GRCh38]
Chr11:637537..637549 [GRCh37]
Chr11:11p15.5		 pathogenic|benign|likely benign
NM_000797.4(DRD4):c.581T>G (p.Val194Gly) single nucleotide variant DOPAMINE RECEPTOR D4 POLYMORPHISM [RCV000018255]|not provided [RCV004717906] Chr11:639830 [GRCh38]
Chr11:639830 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.634826_636065= insertion Attention deficit-hyperactivity disorder, susceptibility to [RCV000018256] Chr11:634826..636065 [GRCh38]
Chr11:634826..636065 [GRCh37]
Chr11:11p15.5		 risk factor
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
NM_000797.4(DRD4):c.1074_1075delinsGG (p.Cys358_Trp359delinsTrpGly) indel not provided [RCV000255881] Chr11:640417..640418 [GRCh38]
Chr11:640417..640418 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 copy number gain See cases [RCV000240134] Chr11:532230..699463 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000797.4(DRD4):c.1004C>G (p.Ala335Gly) single nucleotide variant DRD4-related disorder [RCV003962421]|not provided [RCV000513781] Chr11:640253 [GRCh38]
Chr11:640253 [GRCh37]
Chr11:11p15.5		 benign
NM_000797.4(DRD4):c.860A>C (p.Gln287Pro) single nucleotide variant DRD4-related disorder [RCV003931211]|Hereditary attention deficit-hyperactivity disorder [RCV003239294]|not provided [RCV001573477]|not specified [RCV001726593] Chr11:640109 [GRCh38]
Chr11:640109 [GRCh37]
Chr11:11p15.5		 benign|likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 copy number gain See cases [RCV000445988] Chr11:532230..699404 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_000797.4(DRD4):c.607C>A (p.Leu203Ile) single nucleotide variant not specified [RCV004290870] Chr11:639856 [GRCh38]
Chr11:639856 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.416T>C (p.Val139Ala) single nucleotide variant not specified [RCV004326734] Chr11:639665 [GRCh38]
Chr11:639665 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.728C>T (p.Pro243Leu) single nucleotide variant not specified [RCV004292073] Chr11:639977 [GRCh38]
Chr11:639977 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.807T>C (p.Leu269=) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239310]|not provided [RCV004572894] Chr11:640056 [GRCh38]
Chr11:640056 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000797.4(DRD4):c.812G>A (p.Arg271Gln) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239311] Chr11:640061 [GRCh38]
Chr11:640061 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1212C>G (p.Asn404Lys) single nucleotide variant not specified [RCV004293622] Chr11:640555 [GRCh38]
Chr11:640555 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:556531-927020)x3 copy number gain not provided [RCV000749890] Chr11:556531..927020 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.10:g.(?_532616)_(795026_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] Chr11:532616..795026 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.249C>T (p.Leu83=) single nucleotide variant not provided [RCV000929305] Chr11:637553 [GRCh38]
Chr11:637553 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.51G>A (p.Gly17=) single nucleotide variant not provided [RCV000914917] Chr11:637355 [GRCh38]
Chr11:637355 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.744A>C (p.Pro248=) single nucleotide variant not provided [RCV000950756] Chr11:639993 [GRCh38]
Chr11:639993 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.286-7C>T single nucleotide variant not provided [RCV000922172] Chr11:639426 [GRCh38]
Chr11:639426 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.1110G>A (p.Ala370=) single nucleotide variant not provided [RCV000922173] Chr11:640453 [GRCh38]
Chr11:640453 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.126G>A (p.Val42=) single nucleotide variant DRD4-related disorder [RCV003892160]|not provided [RCV000943227] Chr11:637430 [GRCh38]
Chr11:637430 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.222G>A (p.Val74=) single nucleotide variant DRD4-related disorder [RCV003930674]|not provided [RCV000886629] Chr11:637526 [GRCh38]
Chr11:637526 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000797.4(DRD4):c.952G>A (p.Ala318Thr) single nucleotide variant not specified [RCV004284008] Chr11:640201 [GRCh38]
Chr11:640201 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1194C>T (p.Val398=) single nucleotide variant DRD4-related disorder [RCV003913180]|not provided [RCV000939486] Chr11:640537 [GRCh38]
Chr11:640537 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.834T>G (p.Cys278Trp) single nucleotide variant not specified [RCV004296215] Chr11:640083 [GRCh38]
Chr11:640083 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_000797.4(DRD4):c.1058-32G>C single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239304] Chr11:640369 [GRCh38]
Chr11:640369 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.-11C>T single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239302] Chr11:637294 [GRCh38]
Chr11:637294 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.815G>A (p.Gly272Asp) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239312] Chr11:640064 [GRCh38]
Chr11:640064 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.850A>G (p.Ser284Gly) single nucleotide variant DRD4-related disorder [RCV003966300]|Hereditary attention deficit-hyperactivity disorder [RCV003239314] Chr11:640099 [GRCh38]
Chr11:640099 [GRCh37]
Chr11:11p15.5		 benign|uncertain significance
NM_000797.4(DRD4):c.933T>G (p.Ala311=) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239303] Chr11:640182 [GRCh38]
Chr11:640182 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.816T>C (p.Gly272=) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239313]|not provided [RCV003395732] Chr11:640065 [GRCh38]
Chr11:640065 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000797.4(DRD4):c.802G>T (p.Gly268Cys) single nucleotide variant not provided [RCV001573795] Chr11:640051 [GRCh38]
Chr11:640051 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000797.4(DRD4):c.31G>C (p.Gly11Arg) single nucleotide variant DRD4-related disorder [RCV003936087]|not provided [RCV000969857] Chr11:637335 [GRCh38]
Chr11:637335 [GRCh37]
Chr11:11p15.5		 benign
NM_000797.4(DRD4):c.732T>C (p.Pro244=) single nucleotide variant not provided [RCV000955423] Chr11:639981 [GRCh38]
Chr11:639981 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.870_871insCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGT (p.Cys290_Gly291insProAspCysAlaProAlaAlaProSerLeuProGlnAspProCys) insertion Lung cancer [RCV002465194] Chr11:640119..640120 [GRCh38]
Chr11:640119..640120 [GRCh37]
Chr11:11p15.5		 pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.889C>G (p.Pro297Ala) single nucleotide variant not provided [RCV001573294] Chr11:640138 [GRCh38]
Chr11:640138 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NC_000011.9:g.(?_532636)_(695047_?)dup duplication not provided [RCV001955722] Chr11:532636..695047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_612645)_(644674_?)del deletion not provided [RCV001952780] Chr11:612645..644674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(720766_?)dup duplication Immunodeficiency 39 [RCV001923869] Chr11:216698..720766 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.763del (p.Gln255fs) deletion not provided [RCV002224818] Chr11:640008 [GRCh38]
Chr11:640008 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(819925_?)dup duplication Neutral lipid storage myopathy [RCV003109697] Chr11:532636..819925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_000797.4(DRD4):c.712C>G (p.Pro238Ala) single nucleotide variant not specified [RCV004315668] Chr11:639961 [GRCh38]
Chr11:639961 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000797.4(DRD4):c.718G>A (p.Gly240Ser) single nucleotide variant DRD4-related disorder [RCV003900908]|not specified [RCV004192066] Chr11:639967 [GRCh38]
Chr11:639967 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000797.4(DRD4):c.850_851insCCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCG (p.Ser284fs) insertion Hepatocellular carcinoma [RCV002302798]|Lung cancer [RCV002464635] Chr11:640099..640100 [GRCh38]
Chr11:640099..640100 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000797.4(DRD4):c.807_902del (p.Arg271_Pro302del) deletion Hepatocellular carcinoma [RCV002302810] Chr11:640004..640099 [GRCh38]
Chr11:640004..640099 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000797.4(DRD4):c.806_807insCCCCCCGGACCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCGGCCT (p.Pro270_Arg271insProAspProCysGlyProAspCysAlaProAlaAlaProGlyLeuPro) insertion Hepatocellular carcinoma [RCV002302811]|Lung cancer [RCV002464645] Chr11:640042..640043 [GRCh38]
Chr11:640042..640043 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000797.4(DRD4):c.698G>C (p.Arg233Pro) single nucleotide variant not specified [RCV004128450] Chr11:639947 [GRCh38]
Chr11:639947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.104C>T (p.Ala35Val) single nucleotide variant not specified [RCV004241958] Chr11:637408 [GRCh38]
Chr11:637408 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.256C>A (p.Leu86Met) single nucleotide variant not specified [RCV004245882] Chr11:637560 [GRCh38]
Chr11:637560 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.79T>C (p.Ser27Pro) single nucleotide variant not specified [RCV004127147] Chr11:637383 [GRCh38]
Chr11:637383 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.877G>A (p.Asp293Asn) single nucleotide variant not specified [RCV004169211] Chr11:640126 [GRCh38]
Chr11:640126 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.568C>G (p.Arg190Gly) single nucleotide variant not specified [RCV004109777] Chr11:639817 [GRCh38]
Chr11:639817 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.925A>G (p.Asn309Asp) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239297]|not specified [RCV004182291] Chr11:640174 [GRCh38]
Chr11:640174 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.283G>A (p.Glu95Lys) single nucleotide variant not specified [RCV004086596] Chr11:637587 [GRCh38]
Chr11:637587 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1030G>T (p.Ala344Ser) single nucleotide variant not specified [RCV004227060] Chr11:640279 [GRCh38]
Chr11:640279 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.139G>A (p.Ala47Thr) single nucleotide variant not specified [RCV004243743] Chr11:637443 [GRCh38]
Chr11:637443 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.980C>T (p.Pro327Leu) single nucleotide variant not specified [RCV004177087] Chr11:640229 [GRCh38]
Chr11:640229 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1148G>C (p.Ser383Thr) single nucleotide variant not specified [RCV004183100] Chr11:640491 [GRCh38]
Chr11:640491 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.432C>G (p.Asn144Lys) single nucleotide variant not specified [RCV004199643] Chr11:639681 [GRCh38]
Chr11:639681 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1205T>C (p.Val402Ala) single nucleotide variant not specified [RCV004082425] Chr11:640548 [GRCh38]
Chr11:640548 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.754C>T (p.Arg252Cys) single nucleotide variant not specified [RCV004197523] Chr11:640003 [GRCh38]
Chr11:640003 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.893C>T (p.Ala298Val) single nucleotide variant not specified [RCV004077054] Chr11:640142 [GRCh38]
Chr11:640142 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.698G>T (p.Arg233Leu) single nucleotide variant not specified [RCV004165773] Chr11:639947 [GRCh38]
Chr11:639947 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.958G>C (p.Ala320Pro) single nucleotide variant not specified [RCV004126879] Chr11:640207 [GRCh38]
Chr11:640207 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.716G>C (p.Ser239Thr) single nucleotide variant not specified [RCV004231698] Chr11:639965 [GRCh38]
Chr11:639965 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.652G>T (p.Gly218Cys) single nucleotide variant not specified [RCV004135525] Chr11:639901 [GRCh38]
Chr11:639901 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.824G>A (p.Gly275Asp) single nucleotide variant not specified [RCV004195793] Chr11:640073 [GRCh38]
Chr11:640073 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1218G>C (p.Glu406Asp) single nucleotide variant not specified [RCV004203967] Chr11:640561 [GRCh38]
Chr11:640561 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.181A>C (p.Thr61Pro) single nucleotide variant not specified [RCV004222632] Chr11:637485 [GRCh38]
Chr11:637485 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.715A>C (p.Ser239Arg) single nucleotide variant not specified [RCV004201021] Chr11:639964 [GRCh38]
Chr11:639964 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.122G>T (p.Gly41Val) single nucleotide variant not specified [RCV004073550] Chr11:637426 [GRCh38]
Chr11:637426 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.874C>T (p.Pro292Ser) single nucleotide variant not specified [RCV004169210] Chr11:640123 [GRCh38]
Chr11:640123 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.386T>G (p.Ile129Ser) single nucleotide variant not specified [RCV004229761] Chr11:639533 [GRCh38]
Chr11:639533 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.934C>T (p.Pro312Ser) single nucleotide variant not specified [RCV004082899] Chr11:640183 [GRCh38]
Chr11:640183 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.922T>C (p.Ser308Pro) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV003239296]|not specified [RCV004182290] Chr11:640171 [GRCh38]
Chr11:640171 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.919G>A (p.Gly307Ser) single nucleotide variant not specified [RCV004179854] Chr11:640168 [GRCh38]
Chr11:640168 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.773G>A (p.Cys258Tyr) single nucleotide variant not specified [RCV004260548] Chr11:640022 [GRCh38]
Chr11:640022 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1075T>G (p.Trp359Gly) single nucleotide variant not specified [RCV004264218] Chr11:640418 [GRCh38]
Chr11:640418 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.335T>G (p.Met112Arg) single nucleotide variant not specified [RCV004278067] Chr11:639482 [GRCh38]
Chr11:639482 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.725G>C (p.Gly242Ala) single nucleotide variant not specified [RCV004254736] Chr11:639974 [GRCh38]
Chr11:639974 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.898G>A (p.Gly300Ser) single nucleotide variant not specified [RCV004258411] Chr11:640147 [GRCh38]
Chr11:640147 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.470G>A (p.Gly157Asp) single nucleotide variant DRD4-related disorder [RCV003919022]|not specified [RCV004254369] Chr11:639719 [GRCh38]
Chr11:639719 [GRCh37]
Chr11:11p15.5		 likely benign|uncertain significance
NM_000797.4(DRD4):c.227T>C (p.Leu76Pro) single nucleotide variant not specified [RCV004265320] Chr11:637531 [GRCh38]
Chr11:637531 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.187C>T (p.Arg63Cys) single nucleotide variant not specified [RCV004259761] Chr11:637491 [GRCh38]
Chr11:637491 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.80C>G (p.Ser27Cys) single nucleotide variant not specified [RCV004269211] Chr11:637384 [GRCh38]
Chr11:637384 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:268586-748873) copy number loss Beckwith-Wiedemann syndrome due to 11p15 microdeletion [RCV003319587] Chr11:268586..748873 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_000797.4(DRD4):c.869_870insTGG (p.Gly291_Pro292insGly) duplication Hereditary attention deficit-hyperactivity disorder [RCV003338081] Chr11:640117..640118 [GRCh38]
Chr11:640117..640118 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.822C>T (p.Cys274=) single nucleotide variant not provided [RCV003394678] Chr11:640071 [GRCh38]
Chr11:640071 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.898G>C (p.Gly300Arg) single nucleotide variant not specified [RCV004337071] Chr11:640147 [GRCh38]
Chr11:640147 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1153G>A (p.Val385Ile) single nucleotide variant not specified [RCV004350137] Chr11:640496 [GRCh38]
Chr11:640496 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.814G>C (p.Gly272Arg) single nucleotide variant not specified [RCV004352426] Chr11:640063 [GRCh38]
Chr11:640063 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000797.4(DRD4):c.107C>T (p.Ala36Val) single nucleotide variant DRD4-related disorder [RCV003394343] Chr11:637411 [GRCh38]
Chr11:637411 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.234C>T (p.Ala78=) single nucleotide variant DRD4-related disorder [RCV003966351]|not provided [RCV003389993] Chr11:637538 [GRCh38]
Chr11:637538 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_000797.4(DRD4):c.864C>T (p.Asp288=) single nucleotide variant not provided [RCV003394680] Chr11:640113 [GRCh38]
Chr11:640113 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.843C>A (p.Ala281=) single nucleotide variant not provided [RCV003394679] Chr11:640092 [GRCh38]
Chr11:640092 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.994A>C (p.Arg332=) single nucleotide variant not provided [RCV003389995] Chr11:640243 [GRCh38]
Chr11:640243 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.855C>T (p.Leu285=) single nucleotide variant not provided [RCV003389994] Chr11:640104 [GRCh38]
Chr11:640104 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.793_840del (p.Pro265_Pro280del) deletion not provided [RCV003490714] Chr11:640018..640065 [GRCh38]
Chr11:640018..640065 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh38/hg38 11p15.5(chr11:313988-723647) copy number loss Autism spectrum disorder [RCV003883401] Chr11:313988..723647 [GRCh38]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:372929-762338)x3 copy number gain not specified [RCV003986922] Chr11:372929..762338 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1056C>G (p.Val352=) single nucleotide variant DRD4-related disorder [RCV003979381] Chr11:640305 [GRCh38]
Chr11:640305 [GRCh37]
Chr11:11p15.5		 benign
NM_000797.4(DRD4):c.1016G>A (p.Gly339Asp) single nucleotide variant DRD4-related disorder [RCV003933961]|not specified [RCV003988167] Chr11:640265 [GRCh38]
Chr11:640265 [GRCh37]
Chr11:11p15.5		 benign|likely benign
NM_000797.4(DRD4):c.155dup (p.Asn52fs) duplication Hereditary attention deficit-hyperactivity disorder [RCV003990291] Chr11:637457..637458 [GRCh38]
Chr11:637457..637458 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_000797.4(DRD4):c.406GCCGTG[1] (p.136AV[1]) microsatellite not specified [RCV003988234] Chr11:639651..639656 [GRCh38]
Chr11:639651..639656 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.603C>T (p.Phe201=) single nucleotide variant DRD4-related disorder [RCV003961667] Chr11:639852 [GRCh38]
Chr11:639852 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.850_897del (p.Ser284_Pro299del) deletion DRD4-related disorder [RCV003929798] Chr11:640091..640138 [GRCh38]
Chr11:640091..640138 [GRCh37]
Chr11:11p15.5		 benign
NM_000797.4(DRD4):c.822_831del (p.Gly275fs) deletion DRD4-related disorder [RCV003932320] Chr11:640071..640080 [GRCh38]
Chr11:640071..640080 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.955G>A (p.Ala319Thr) single nucleotide variant DRD4-related disorder [RCV003909828] Chr11:640204 [GRCh38]
Chr11:640204 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.250G>A (p.Ala84Thr) single nucleotide variant DRD4-related disorder [RCV003917196] Chr11:637554 [GRCh38]
Chr11:637554 [GRCh37]
Chr11:11p15.5		 benign
NM_000797.4(DRD4):c.64GCATCTGCGGGG[1] (p.22ASAG[1]) microsatellite DRD4-related disorder [RCV003981898] Chr11:637362..637373 [GRCh38]
Chr11:637362..637373 [GRCh37]
Chr11:11p15.5		 benign
NM_000797.4(DRD4):c.1235G>T (p.Arg412Leu) single nucleotide variant DRD4-related disorder [RCV003907007] Chr11:640578 [GRCh38]
Chr11:640578 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.928T>C (p.Cys310Arg) single nucleotide variant not specified [RCV004377111] Chr11:640177 [GRCh38]
Chr11:640177 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.285+7C>T single nucleotide variant DRD4-related disorder [RCV003949261] Chr11:637596 [GRCh38]
Chr11:637596 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.989G>A (p.Arg330His) single nucleotide variant not specified [RCV004377113] Chr11:640238 [GRCh38]
Chr11:640238 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1250C>T (p.Ala417Val) single nucleotide variant not specified [RCV004377097] Chr11:640593 [GRCh38]
Chr11:640593 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.191C>T (p.Ala64Val) single nucleotide variant not specified [RCV004377099] Chr11:637495 [GRCh38]
Chr11:637495 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.419C>G (p.Pro140Arg) single nucleotide variant not specified [RCV004377101] Chr11:639668 [GRCh38]
Chr11:639668 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.433C>G (p.Arg145Gly) single nucleotide variant not specified [RCV004377102] Chr11:639682 [GRCh38]
Chr11:639682 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.908C>A (p.Pro303Gln) single nucleotide variant not specified [RCV004377107] Chr11:640157 [GRCh38]
Chr11:640157 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.684C>T (p.Ala228=) single nucleotide variant DRD4-related disorder [RCV003944528] Chr11:639933 [GRCh38]
Chr11:639933 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.232G>A (p.Ala78Thr) single nucleotide variant DRD4-related disorder [RCV003914695] Chr11:637536 [GRCh38]
Chr11:637536 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.759_806dup (p.Pro270_Arg271insGlnAspProCysGlyProAspCysAlaProProAlaProGlyLeuPro) duplication Hereditary attention deficit-hyperactivity disorder [RCV003990481] Chr11:640003..640004 [GRCh38]
Chr11:640003..640004 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.341T>C (p.Met114Thr) single nucleotide variant not specified [RCV004377100] Chr11:639488 [GRCh38]
Chr11:639488 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1132C>T (p.Pro378Ser) single nucleotide variant not specified [RCV004377096] Chr11:640475 [GRCh38]
Chr11:640475 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.158C>G (p.Ser53Trp) single nucleotide variant not specified [RCV004377098] Chr11:637462 [GRCh38]
Chr11:637462 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.502G>A (p.Ala168Thr) single nucleotide variant not specified [RCV004377103] Chr11:639751 [GRCh38]
Chr11:639751 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.529G>T (p.Val177Leu) single nucleotide variant not specified [RCV004377104] Chr11:639778 [GRCh38]
Chr11:639778 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.719G>C (p.Gly240Ala) single nucleotide variant not specified [RCV004377105] Chr11:639968 [GRCh38]
Chr11:639968 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.860A>G (p.Gln287Arg) single nucleotide variant not specified [RCV004377106] Chr11:640109 [GRCh38]
Chr11:640109 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.908C>G (p.Pro303Arg) single nucleotide variant not specified [RCV004377108] Chr11:640157 [GRCh38]
Chr11:640157 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.917G>T (p.Cys306Phe) single nucleotide variant not specified [RCV004377109] Chr11:640166 [GRCh38]
Chr11:640166 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.967C>T (p.Pro323Ser) single nucleotide variant not specified [RCV004377112] Chr11:640216 [GRCh38]
Chr11:640216 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.485T>G (p.Leu162Arg) single nucleotide variant Hereditary attention deficit-hyperactivity disorder [RCV004556014] Chr11:639734 [GRCh38]
Chr11:639734 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.925A>T (p.Asn309Tyr) single nucleotide variant not specified [RCV004619848] Chr11:640174 [GRCh38]
Chr11:640174 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.817C>T (p.Pro273Ser) single nucleotide variant not specified [RCV004619852] Chr11:640066 [GRCh38]
Chr11:640066 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.988C>T (p.Arg330Cys) single nucleotide variant not specified [RCV004619853] Chr11:640237 [GRCh38]
Chr11:640237 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_532636)_(824862_?)dup duplication Costello syndrome [RCV004580178] Chr11:532636..824862 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(644674_?)dup duplication not provided [RCV004580366] Chr11:532636..644674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(679836_?)del deletion not provided [RCV004580364] Chr11:216698..679836 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1246C>T (p.Arg416Cys) single nucleotide variant not specified [RCV004619847] Chr11:640589 [GRCh38]
Chr11:640589 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.802G>C (p.Gly268Arg) single nucleotide variant not specified [RCV004619846] Chr11:640051 [GRCh38]
Chr11:640051 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.353T>C (p.Leu118Pro) single nucleotide variant not specified [RCV004619849] Chr11:639500 [GRCh38]
Chr11:639500 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.331C>A (p.Leu111Ile) single nucleotide variant not specified [RCV004619854] Chr11:639478 [GRCh38]
Chr11:639478 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.317G>A (p.Arg106His) single nucleotide variant not specified [RCV004619851] Chr11:639464 [GRCh38]
Chr11:639464 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.468C>A (p.Ile156=) single nucleotide variant DRD4-related disorder [RCV004757001] Chr11:639717 [GRCh38]
Chr11:639717 [GRCh37]
Chr11:11p15.5		 likely benign
NM_000797.4(DRD4):c.737C>A (p.Pro246His) single nucleotide variant DRD4-related disorder [RCV004731756] Chr11:639986 [GRCh38]
Chr11:639986 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1115G>A (p.Cys372Tyr) single nucleotide variant DRD4-related disorder [RCV004732382] Chr11:640458 [GRCh38]
Chr11:640458 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.52_62del (p.Pro18fs) deletion Hereditary attention deficit-hyperactivity disorder [RCV003337886] Chr11:637350..637360 [GRCh38]
Chr11:637350..637360 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_000797.4(DRD4):c.1074C>G (p.Cys358Trp) single nucleotide variant not specified [RCV004264217] Chr11:640417 [GRCh38]
Chr11:640417 [GRCh37]
Chr11:11p15.5		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:677
Count of miRNA genes:536
Interacting mature miRNAs:600
Transcripts:ENST00000176183, ENST00000528733
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human

Markers in Region
RH71428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711640,546 - 640,685UniSTSGRCh37
Build 3611630,546 - 630,685RGDNCBI36
Celera11705,661 - 705,800RGD
Cytogenetic Map11p15.5UniSTS
HuRef11455,879 - 456,018UniSTS
GeneMap99-GB4 RH Map1118.88UniSTS
RH27290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711640,312 - 640,727UniSTSGRCh37
Build 3611630,312 - 630,727RGDNCBI36
Celera11705,427 - 705,842RGD
Cytogenetic Map11p15.5UniSTS
HuRef11455,645 - 456,060UniSTS
GDB:196985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711639,917 - 640,234UniSTSGRCh37
Build 3611629,917 - 630,234RGDNCBI36
Celera11705,032 - 705,349RGD
Cytogenetic Map11p15.5UniSTS
HuRef11455,250 - 455,567UniSTS
GDB:311107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711636,883 - 637,591UniSTSGRCh37
Build 3611626,883 - 627,591RGDNCBI36
Celera11702,000 - 702,708RGD
Cytogenetic Map11p15.5UniSTS
HuRef11452,091 - 452,799UniSTS
GDB:374242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711639,274 - 639,417UniSTSGRCh37
Build 3611629,274 - 629,417RGDNCBI36
Celera11704,389 - 704,532RGD
Cytogenetic Map11p15.5UniSTS
HuRef11454,480 - 454,623UniSTS
PMC117557P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711639,756 - 640,460UniSTSGRCh37
Build 3611629,756 - 630,460RGDNCBI36
Celera11704,871 - 705,575RGD
Cytogenetic Map11p15.5UniSTS
HuRef11455,089 - 455,793UniSTS
PMC130047P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711639,818 - 640,292UniSTSGRCh37
Build 3611629,818 - 630,292RGDNCBI36
Celera11704,933 - 705,407RGD
Cytogenetic Map11p15.5UniSTS
HuRef11455,151 - 455,625UniSTS
PMC130047P2  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.5UniSTS
HuRef11451,887 - 452,170UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2431 2786 2235 4952 1721 2340 4 618 1704 460 2262 7018 6207 53 3724 836 1733 1611 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB065765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB107017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB107018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB107019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF395264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY151038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM674709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU432112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ064953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L12397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L12398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000176183   ⟹   ENSP00000176183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11637,269 - 640,706 (+)Ensembl
Ensembl Acc Id: ENST00000528733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11639,057 - 639,793 (+)Ensembl
RefSeq Acc Id: NM_000797   ⟹   NP_000788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811637,269 - 640,706 (+)NCBI
GRCh3711637,305 - 640,706 (+)ENTREZGENE
Build 3611627,305 - 630,703 (+)NCBI Archive
HuRef11452,513 - 456,039 (+)ENTREZGENE
CHM1_111636,234 - 639,634 (+)NCBI
T2T-CHM13v2.011685,792 - 689,369 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000788 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB33728 (Get FASTA)   NCBI Sequence Viewer  
  AAB46802 (Get FASTA)   NCBI Sequence Viewer  
  AAB46803 (Get FASTA)   NCBI Sequence Viewer  
  AAB59386 (Get FASTA)   NCBI Sequence Viewer  
  AAL35159 (Get FASTA)   NCBI Sequence Viewer  
  AAL35160 (Get FASTA)   NCBI Sequence Viewer  
  AAL35161 (Get FASTA)   NCBI Sequence Viewer  
  AAL35162 (Get FASTA)   NCBI Sequence Viewer  
  AAL35163 (Get FASTA)   NCBI Sequence Viewer  
  AAL35164 (Get FASTA)   NCBI Sequence Viewer  
  AAL35165 (Get FASTA)   NCBI Sequence Viewer  
  AAL35166 (Get FASTA)   NCBI Sequence Viewer  
  AAL35167 (Get FASTA)   NCBI Sequence Viewer  
  AAL35168 (Get FASTA)   NCBI Sequence Viewer  
  AAL35169 (Get FASTA)   NCBI Sequence Viewer  
  AAL35170 (Get FASTA)   NCBI Sequence Viewer  
  AAL35171 (Get FASTA)   NCBI Sequence Viewer  
  AAL35172 (Get FASTA)   NCBI Sequence Viewer  
  AAL35173 (Get FASTA)   NCBI Sequence Viewer  
  AAL35174 (Get FASTA)   NCBI Sequence Viewer  
  AAL35175 (Get FASTA)   NCBI Sequence Viewer  
  AAL35176 (Get FASTA)   NCBI Sequence Viewer  
  AAL35177 (Get FASTA)   NCBI Sequence Viewer  
  AAL35178 (Get FASTA)   NCBI Sequence Viewer  
  AAL35179 (Get FASTA)   NCBI Sequence Viewer  
  AAL35180 (Get FASTA)   NCBI Sequence Viewer  
  AAL35181 (Get FASTA)   NCBI Sequence Viewer  
  AAL35182 (Get FASTA)   NCBI Sequence Viewer  
  AAL35183 (Get FASTA)   NCBI Sequence Viewer  
  AAL35184 (Get FASTA)   NCBI Sequence Viewer  
  AAL35185 (Get FASTA)   NCBI Sequence Viewer  
  AAL35186 (Get FASTA)   NCBI Sequence Viewer  
  AAL35187 (Get FASTA)   NCBI Sequence Viewer  
  AAL35188 (Get FASTA)   NCBI Sequence Viewer  
  AAL35189 (Get FASTA)   NCBI Sequence Viewer  
  AAL35190 (Get FASTA)   NCBI Sequence Viewer  
  AAL35191 (Get FASTA)   NCBI Sequence Viewer  
  AAL35192 (Get FASTA)   NCBI Sequence Viewer  
  AAL35193 (Get FASTA)   NCBI Sequence Viewer  
  AAL35194 (Get FASTA)   NCBI Sequence Viewer  
  AAL35195 (Get FASTA)   NCBI Sequence Viewer  
  AAL35196 (Get FASTA)   NCBI Sequence Viewer  
  AAL35197 (Get FASTA)   NCBI Sequence Viewer  
  AAL35198 (Get FASTA)   NCBI Sequence Viewer  
  AAL35199 (Get FASTA)   NCBI Sequence Viewer  
  AAL35200 (Get FASTA)   NCBI Sequence Viewer  
  AAL35201 (Get FASTA)   NCBI Sequence Viewer  
  AAL35202 (Get FASTA)   NCBI Sequence Viewer  
  AAL35203 (Get FASTA)   NCBI Sequence Viewer  
  AAL35204 (Get FASTA)   NCBI Sequence Viewer  
  AAL35205 (Get FASTA)   NCBI Sequence Viewer  
  AAL35206 (Get FASTA)   NCBI Sequence Viewer  
  AAL35207 (Get FASTA)   NCBI Sequence Viewer  
  AAL35208 (Get FASTA)   NCBI Sequence Viewer  
  AAL35209 (Get FASTA)   NCBI Sequence Viewer  
  AAL35210 (Get FASTA)   NCBI Sequence Viewer  
  AAL35211 (Get FASTA)   NCBI Sequence Viewer  
  AAL35212 (Get FASTA)   NCBI Sequence Viewer  
  AAL35213 (Get FASTA)   NCBI Sequence Viewer  
  AAL58637 (Get FASTA)   NCBI Sequence Viewer  
  AAN73253 (Get FASTA)   NCBI Sequence Viewer  
  AAN73255 (Get FASTA)   NCBI Sequence Viewer  
  AAN73256 (Get FASTA)   NCBI Sequence Viewer  
  AAN73257 (Get FASTA)   NCBI Sequence Viewer  
  AAN73258 (Get FASTA)   NCBI Sequence Viewer  
  AAN73259 (Get FASTA)   NCBI Sequence Viewer  
  AAN73260 (Get FASTA)   NCBI Sequence Viewer  
  AAN73261 (Get FASTA)   NCBI Sequence Viewer  
  AAN73262 (Get FASTA)   NCBI Sequence Viewer  
  AAN73263 (Get FASTA)   NCBI Sequence Viewer  
  AAN73264 (Get FASTA)   NCBI Sequence Viewer  
  ABY87911 (Get FASTA)   NCBI Sequence Viewer  
  AFU07590 (Get FASTA)   NCBI Sequence Viewer  
  BAC05985 (Get FASTA)   NCBI Sequence Viewer  
  BAD00718 (Get FASTA)   NCBI Sequence Viewer  
  BAD00719 (Get FASTA)   NCBI Sequence Viewer  
  BAD00720 (Get FASTA)   NCBI Sequence Viewer  
  EAX02369 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000176183
  ENSP00000176183.5
  ENSP00000478431.1
GenBank Protein P21917 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000788   ⟸   NM_000797
- UniProtKB: Q7Z7Q5 (UniProtKB/Swiss-Prot),   B0M0J7 (UniProtKB/Swiss-Prot),   Q8NGM5 (UniProtKB/Swiss-Prot),   P21917 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000176183   ⟸   ENST00000176183
Protein Domains
G-protein coupled receptors family 1 profile

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P21917-F1-model_v2 AlphaFold P21917 1-419 view protein structure

Promoters
RGD ID:7219189
Promoter ID:EPDNEW_H15340
Type:initiation region
Name:DRD4_1
Description:dopamine receptor D4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811637,285 - 637,345EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3025 AgrOrtholog
COSMIC DRD4 COSMIC
Ensembl Genes ENSG00000069696 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000276825 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000176183 ENTREZGENE
  ENST00000176183.6 UniProtKB/Swiss-Prot
  ENST00000611962.2 UniProtKB/Swiss-Prot
Gene3D-CATH Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot
GTEx ENSG00000069696 GTEx
  ENSG00000276825 GTEx
HGNC ID HGNC:3025 ENTREZGENE
Human Proteome Map DRD4 Human Proteome Map
InterPro Dopamine_D4_rcpt UniProtKB/Swiss-Prot
  Dopamine_rcpt UniProtKB/Swiss-Prot
  GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1815 UniProtKB/Swiss-Prot
NCBI Gene 1815 ENTREZGENE
OMIM 126452 OMIM
PANTHER ADRENERGIC RECEPTOR-RELATED G-PROTEIN COUPLED RECEPTOR UniProtKB/Swiss-Prot
  PTHR24248:SF143 UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB DRD4 RGD, PharmGKB
PRINTS DOPAMINED4R UniProtKB/Swiss-Prot
  DOPAMINER UniProtKB/Swiss-Prot
  GPCRRHODOPSN UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS0002618466 RNACentral
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
Superfamily-SCOP Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot
UniProt A4LB49_HUMAN UniProtKB/TrEMBL
  A4LB54_HUMAN UniProtKB/TrEMBL
  A4LB56_HUMAN UniProtKB/TrEMBL
  A4LBB9_HUMAN UniProtKB/TrEMBL
  B0M0J7 ENTREZGENE
  DRD4_HUMAN UniProtKB/Swiss-Prot
  F6K0T3_HUMAN UniProtKB/TrEMBL
  F6K0T7_HUMAN UniProtKB/TrEMBL
  F6K0T8_HUMAN UniProtKB/TrEMBL
  F6K0T9_HUMAN UniProtKB/TrEMBL
  F6K0U0_HUMAN UniProtKB/TrEMBL
  G5CTX6_HUMAN UniProtKB/TrEMBL
  G9HV62_HUMAN UniProtKB/TrEMBL
  G9HV63_HUMAN UniProtKB/TrEMBL
  G9HV64_HUMAN UniProtKB/TrEMBL
  G9HV65_HUMAN UniProtKB/TrEMBL
  K9MAQ3_HUMAN UniProtKB/TrEMBL
  K9MAQ4_HUMAN UniProtKB/TrEMBL
  K9MAQ5_HUMAN UniProtKB/TrEMBL
  K9MAU6_HUMAN UniProtKB/TrEMBL
  K9MAU8_HUMAN UniProtKB/TrEMBL
  K9MAZ0_HUMAN UniProtKB/TrEMBL
  K9MAZ1_HUMAN UniProtKB/TrEMBL
  K9MB44_HUMAN UniProtKB/TrEMBL
  K9MB45_HUMAN UniProtKB/TrEMBL
  K9MB71_HUMAN UniProtKB/TrEMBL
  K9MB72_HUMAN UniProtKB/TrEMBL
  P21917 ENTREZGENE
  Q0MTB8_HUMAN UniProtKB/TrEMBL
  Q0MTB9_HUMAN UniProtKB/TrEMBL
  Q76E76_HUMAN UniProtKB/TrEMBL
  Q7Z7Q5 ENTREZGENE
  Q8IZB1_HUMAN UniProtKB/TrEMBL
  Q8IZB2_HUMAN UniProtKB/TrEMBL
  Q8IZB3_HUMAN UniProtKB/TrEMBL
  Q8IZB4_HUMAN UniProtKB/TrEMBL
  Q8IZB5_HUMAN UniProtKB/TrEMBL
  Q8IZB6_HUMAN UniProtKB/TrEMBL
  Q8IZB7_HUMAN UniProtKB/TrEMBL
  Q8IZB8_HUMAN UniProtKB/TrEMBL
  Q8IZB9_HUMAN UniProtKB/TrEMBL
  Q8IZC0_HUMAN UniProtKB/TrEMBL
  Q8NGM5 ENTREZGENE
  Q8WTQ0_HUMAN UniProtKB/TrEMBL
  Q8WTQ5_HUMAN UniProtKB/TrEMBL
  Q8WTR3_HUMAN UniProtKB/TrEMBL
  Q8WTR5_HUMAN UniProtKB/TrEMBL
  Q8WTR9_HUMAN UniProtKB/TrEMBL
  Q8WTS5_HUMAN UniProtKB/TrEMBL
  Q8WTS7_HUMAN UniProtKB/TrEMBL
  Q8WTT3_HUMAN UniProtKB/TrEMBL
  Q8WTT6_HUMAN UniProtKB/TrEMBL
  Q8WTT7_HUMAN UniProtKB/TrEMBL
  Q8WXL5_HUMAN UniProtKB/TrEMBL
  Q8WXL6_HUMAN UniProtKB/TrEMBL
  Q8WXL7_HUMAN UniProtKB/TrEMBL
  Q8WXL8_HUMAN UniProtKB/TrEMBL
  Q8WXL9_HUMAN UniProtKB/TrEMBL
  Q8WXM0_HUMAN UniProtKB/TrEMBL
  Q8WXM1_HUMAN UniProtKB/TrEMBL
  Q8WXM3_HUMAN UniProtKB/TrEMBL
  Q8WXM4_HUMAN UniProtKB/TrEMBL
  Q8WXM5_HUMAN UniProtKB/TrEMBL
  Q8WXM6_HUMAN UniProtKB/TrEMBL
  Q8WXM7_HUMAN UniProtKB/TrEMBL
  Q8WXM8_HUMAN UniProtKB/TrEMBL
  Q8WXM9_HUMAN UniProtKB/TrEMBL
  Q8WXN0_HUMAN UniProtKB/TrEMBL
  Q8WXN1_HUMAN UniProtKB/TrEMBL
  Q8WXN2_HUMAN UniProtKB/TrEMBL
  Q8WXN3_HUMAN UniProtKB/TrEMBL
  Q8WXN4_HUMAN UniProtKB/TrEMBL
  Q8WXN5_HUMAN UniProtKB/TrEMBL
  Q8WXN6_HUMAN UniProtKB/TrEMBL
  Q8WXN7_HUMAN UniProtKB/TrEMBL
  Q8WXN8_HUMAN UniProtKB/TrEMBL
  Q8WXN9_HUMAN UniProtKB/TrEMBL
  Q8WXP0_HUMAN UniProtKB/TrEMBL
  Q8WXP1_HUMAN UniProtKB/TrEMBL
  Q8WXP2_HUMAN UniProtKB/TrEMBL
  Q8WXP3_HUMAN UniProtKB/TrEMBL
  Q8WXP4_HUMAN UniProtKB/TrEMBL
  Q8WXP5_HUMAN UniProtKB/TrEMBL
  Q8WXP6_HUMAN UniProtKB/TrEMBL
  Q8WXP7_HUMAN UniProtKB/TrEMBL
UniProt Secondary B0M0J7 UniProtKB/Swiss-Prot
  Q7Z7Q5 UniProtKB/Swiss-Prot
  Q8NGM5 UniProtKB/Swiss-Prot
  Q8WXM2 UniProtKB/TrEMBL