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 D4LO000227LDRD41111p15.5
Sites List: 
See Sites List
External Resources: OMIM description   GenBank sequence   GenBank sequence   GenBank sequence   Entrez Gene Locus Information   PharmGKB Gene Information   
References: See References
Locus Description: 

The dopamine D4 receptor is a member of the D2-like dopamine receptor family, which belongs to the family of G protein-coupled receptors. The dopamine D4 receptor gene (DRD4) shows considerable homology to DRD2 (Grandy et al., 1989) [PubMed ID: 2573278] and DRD3 (Sokoloff et al., 1990) [PubMed ID: 1975644]. In 1992, Gelernter et al. [PubMed ID: 1349574] mapped DRD4 to 11p15.5 by genetic linkage. Polymorphisms at the DRD4 gene have been examined for association with a wide range of neuropsychiatric disorders and normal behavioral variation. The DRD4 gene is unusual because of the very extensive amount of expressed variation for the 48 bp repeat polymorphism in exon 3 (Kidd et al., 1996) [PubMed ID: 8682515]. However, researchers have not yet demonstrated definitively that this expressed variation corresponds to functional differences in vivo. Several other polymorphic sites have been identified at or near this gene (Seaman et al., 1999 [PubMed ID: 10581493] and Jonsson et al., 2001 [PubMed ID: 11496369]).

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 P 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
dbSNP rs#
(Navigates to dbSNP
reference page)
Chr-PositionStatus# Populations
5' 120 bp duplicationrs4646984   63582634
rs3758653rs3758653   63639951
rs747302 (-616C/G)rs747302   6366891
rs936462 (-615 A/G)rs936462   6366901
5' promoter -521C/Trs1800955   63678433
Exon 1 12bp duplicationrs4646983   63739132
SNP30-DRD4rs1800443   63983014
rs11246226rs11246226   64119178
SNP29-DRD4   5
Exon 3 48 bp_VNTR   37
3-site haplotype (5' 120 bp duplication, upstream 5' UTR, promoter 5' C>T -521)   30

- Chang FM, Kidd JR, Livak KJ, Pakstis AJ, Kidd KK. "The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus". Hum. Genet. 98:91-101. (1996)
Online citation.

- Goddard KA, Hopkins PJ, Hall JM, Witte JS. "Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations ". Am. J. Hum. Genet. 66:216-234. (2000) 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.

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

- Jonsson EG, Ivo R, Forslund K, Mattila-Evenden M, Rylander G, Cichon S, Propping P, Nothen MM, Asberg M, Sedvall GC. "No association between a promoter dopamine D(4) receptor gene variant and schizophrenia". Am. J. Med. Genet. 105:525-8. (2001) 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.

- Seaman MI, Chang FM, Deinard AS, Quinones AT, Kidd KK. "Evolution of exon 1 of the dopamine D4 receptor (DRD4) gene in primates". Journal of Experimental Zoology (Mol. Dev. Evol.) 288:32-8. (2000) Online citation.

- Seaman MI, Fisher JB, Chang FM, Kidd KK. "A tandem duplication polymorphism upstream of the dopamine D4 receptor gene (DRD4)". American Journal of Medical Genetics (Neuropsychiatric Genetics) 88:705-9. (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.


© 2018 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