ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Dopamine Receptor D2LO000168PDRD21111q23
Synonyms:
Sites List: See Sites List
External Resources: OMIM description   GenBank sequence   Entrez Gene Locus Information   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: 

DRD2 encodes the dopamine D2 receptor, which plays a critical role in the functioning of many neural circuits in the human brain. The gene spans over 270 kb with a large first intron (250 kb) and maps to 11q22.3-q23.1 (Eubanks et al., 1992) [PubMed ID: 1478642]. Because of the relevance of this receptor to neurologic function, many association studies have been done to test whether a polymorphism near the gene shows different frequencies in patients and controls. The TaqI "A" polymorphism (Grandy et al., 1989) [PubMed ID: 2573278], the first polymorphism reported near this gene, is the most commonly studies; it is located ~10 kb down stream from exon 8, which is the end of the DRD2 gene (Kidd et al., 1996) [PubMed ID: 8800387]. Many other polymorphic sites, such as EcoRI, BclI, TaqI "B", TaqI "D", MboI, HincII, and SSCP at 3' untranslated region (UTR), have been reported for this locus (Iyengar et al., 1998) [PubMed ID: 10993602].

Dopamine receptors mediate enzyme activities, metabolic rates, and ion channels. They are involved in neurological signaling and may play roles in cognitive and emotional functions and neurological disorders (Sokoloff et al., 1990) [PubMed ID: 1975644]. The dopamine receptors are targets for drugs which treat schizophrenia and Parkinson disease (PD) (Scharfetter et al., 1999) [PubMed ID: 10647091]. There are five different receptors encoded by five separate genes characterized in two subgroups: one comprising the D1 and D5 receptors and the other comprising D2, D3, and D4 receptors (Jackson and Westlind-Danielsson, 1994) [PubMed ID: 7878079].


Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
intron 1 (CT)n dinucleotide STRP   018
2-site haplotype ( TaqI A,Exon 6 NcoI)   1132708285
2-site haplotype (TaqI A, TaqI B)   1132708281
TaqI A rs1800497   113270828Now associated with ANKK168
C____343603_10rs1003641   113273636Now associated with ANKK145
rs10891549rs10891549   11327844750
HincII rs2234689   11327848341
C__11339234_20rs2242592   11327943079
C____326647_1_ exon 8 C/G SNPrs6279   11328107345
exon 8 HpaII RFLPrs6276   1132813971
C___7486661_1_rs1124492   11328227543
C__11339239_1_rs1079595   11328266957
Exon 6 NcoIrs6275   11328347780
exon 7 Ser311Cysrs1801028   1132834845
2-site haplotype (Ser311Cys, -141C Ins/Del)   1132834841
intron 4 C/Trs2734839   1132864901
6 SNP haplotype   1132864901
intron 4 A/Grs2734838   11328650151
rs2440390rs2440390   11328687850
C___2601168_1_rs1107162   11328903757
rs2075654rs2075654   11328906647
rs1079727rs1079727   11328918286
C__12030971_1_rs2002453   11328929885
rs2245805rs2245805   1132906991
intron 2 TaqI D rs1800498   11329158862
intron 2 MboI rs2234690   11329174845
rs1076563rs1076563   11329590951
intron 1 BclI rs1079598   11329627441
3-site haplotype (TaqI B, TaqI D, TaqI A)   11329628674
intron 1 TaqI B rs1079597   113296286102
4-site haplotype (TaqI B, TaqI D, (CA) repeat, TaqI A)   11329628633
5-site haplotype (TaqI B, TaqI D, (GT) STRP, HincII, TaqI A)   11329628632
rs1079596rs1079596   11329661914
C___7486613_10rs1125393   11329734956
rs2471857rs2471857   11329833951
rs12800853rs12800853   11330251547
rs7118161rs7118161   11330359050
rs4938017rs4938017   1133039291
rs12364051rs12364051   11330531450
rs4436578rs4436578   11330676550
rs4586205rs4586205   1133071291
rs4620755rs4620755   11330961951
rs11214606rs11214606   11330986950
rs7125415rs7125415   11331068187
intron 1 BslI rs4648318   11331338979
rs4648319rs4648319   11331436350
C____454106_10rs11214608   11331535553
rs17529477rs17529477   11331706750
rs4245146rs4245146   11331797351
rs4936270rs4936270   11331840850
rs4274224rs4274224   11331945251
rs4581480rs4581480   11332447487
rs7131056rs7131056   11332977487
intron 1 T/C rs4648317   11333153285
C_____23649_10rs7117915   11333342545
rs4350392rs4350392   1133357171
rs4938019rs4938019   11334139152
-141 C Ins/Delrs1799732   11334625220
HGVbase_SNP000002593 (5' MaeIII )rs1799978   11334635178
rs12364283rs12364283   11334695551
intron 6 C2312del    1
intron 2 (GT)n dinucleotide STRP   31
EcoRI    3
5' (GAAA)n tetranucleotide STRP   4

References:
- Castiglione CM, Deinard AS, Speed WC, Sirugo G, Rosenbaum HC, Zhang Y, Grandy DK, Grigorenko EL, Bonne-Tamir B, Pakstis AJ, Kidd JR, Kidd KK. "Evolution of haplotypes at the DRD2 locus". Am. J. Hum. Genet. 57:1445-56. (1995) Online citation.

- Deinard A, Kidd KK. "Evolution of a D2 dopamine receptor intron within the great apes and humans". DNA Seq. 8:289-301. (1998) Online citation.

- Eubanks JH, Djabali M, Selleri L, Grandy DK, Civelli O, McElligott DL, Evans GA. "Structure and linkage of the D2 dopamine receptor and neural cell adhesion molecule genes on human chromosome 11q23". Genomics 14:1010-8. (1992) Online citation.

- Grandy DK, Litt M, Allen L, Bunzow JR, Marchionni M, Makam H, Reed L, Magenis RE, Civelli O. "The human dopamine D2 receptor gene is located on chromosome 11 at q22-q23 and identifies a TaqI RFLP". Am. J. Hum. Genet. 45:778-85. (1989) Online citation.

- Hauge XY, Grandy DK, Eubanks JH, Evans GA, Civelli O, Litt M. "Detection and characterization of additional DNA polymorphisms in the dopamine D2 receptor gene". Genomics 10:527-30. (1991) Online citation.

- Iyengar S, Seaman M, Deinard AS, Rosenbaum HC, Sirugo G, Castiglione CM, Kidd JR, Kidd KK. "Analyses of cross-species polymerase chain reaction products to infer the ancestral state of human polymorphisms". DNA Seq. 8:317-27. (1998) Online citation.

- Jackson DM, Westlind-Danielsson A. "Dopamine receptors: molecular biology, biochemistry and behavioural aspects". Pharmacol. Ther. 64:291-370. (1994) Online citation.

- Kidd KK, Morar B, Castiglione CM, Zhao H, Pakstis AJ, Speed WC, Bonne-Tamir B, Lu RB, Goldman D, Lee C, Nam YS, Grandy DK, Jenkins T, Kidd JR. "A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus". Hum. Genet. 103:211-27. (1998) Online citation.

- Kidd KK, Pakstis AJ, Castiglione CM, Kidd JR, Speed WC, Goldman D, Knowler WC, Lu RB, Bonne-Tamir B. "DRD2 haplotypes containing the TaqI A1 allele: implications for alcoholism research". Alcohol. Clin. Exp. Res. 20:697-705. (1996) Online citation.

- Scharfetter J, Chaudhry HR, Hornik K, Fuchs K, Sieghart W, Kasper S, Aschauer HN. "Dopamine D3 receptor gene polymorphism and response to clozapine in schizophrenic Pakastani patients". Eur. Neuropsychopharmacol. 10:17-20. (1999) Online citation.

- Sokoloff P, Giros B, Martres MP, Bouthenet ML, Schwartz JC. "Molecular cloning and characterization of a novel dopamine receptor (D3) as a target for neuroleptics". Nature 347:146-51. (1990) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan