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Gene Review

DRD5  -  dopamine receptor D5

Homo sapiens

Synonyms: D(1B) dopamine receptor, D(5) dopamine receptor, D1beta dopamine receptor, DBDR, DRD1B, ...
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Disease relevance of DRD5


Psychiatry related information on DRD5


High impact information on DRD5

  • An initial report of association between ADHD and the common 148-bp allele of a microsatellite marker located 18.5 kb from the DRD5 gene has been followed by several studies showing nonsignificant trends toward association with the same allele [3].
  • We have investigated 12 U.K. families with Wolfram syndrome, and we report confirmation of linkage to chromosome 4p, with a maximum two-point LOD score of 4.6 with DRD5, assuming homogeneity, and of 5.1, assuming heterogeneity [7].
  • To determine whether mutations in the D5 dopamine receptor gene (DRD5) are associated with schizophrenia, the gene was examined in 78 unrelated schizophrenic individuals (156 DRD5 alleles) [8].
  • We replicate an association of a dinucleotide repeat polymorphism near the DRD5 gene with ADHD by showing biased nontransmission of the 146-bp allele (P=0.02) and a trend toward excess transmission of the 148-bp allele (P=0.053) [9].
  • Correlation between D' and physical distance was observed between markers at DAT1 and DRD5 for distances less than 50 kb [10].

Biological context of DRD5


Anatomical context of DRD5


Associations of DRD5 with chemical compounds

  • In conclusion, there is a statistically significant association between ADHD and dopamine system genes, especially DRD4 and DRD5 [15].
  • An association study of DRD5 with smoking initiation and progression to nicotine dependence [16].

Other interactions of DRD5

  • Localization of the CCK receptors with two dopamine receptors, DRD5 (4p15.1-p15.3) and DRD4 (11p15), provides the interesting possibility of coinvolvement in neuropsychiatric or CNS illnesses [17].
  • Two of these dopamine receptors (DRD1 and DRD5) are encoded by intronless genes [11].
  • We were unable to detect a significant association with any of the polymorphisms genotyped, although there was a trend for preferential transmission of the DRD5 148 bp marker allele and the MAOA 122 bp marker allele [18].
  • Transmission of the 'associated' alleles at DAT1 and DBH is stronger in familial cases, RR(DAT1)=1.29 (1.04-1.59), RR(DBH)=1.49 (1.10-2.00), but for DRD5, transmission is stronger in non-familial cases, RR=1.59 (1.05-2.42) [19].
  • We have previously reported that the human genome contains the two pseudogenes psi DRD5-1, and psi DRD5-2, and that each share 94% homology when compared with the functional gene DRD5 [20].

Analytical, diagnostic and therapeutic context of DRD5


  1. Dopamine receptor genes and migraine with and without aura: an association study. Shepherd, A.G., Lea, R.A., Hutchins, C., Jordan, K.L., Brimage, P.J., Griffiths, L.R. Headache. (2002) [Pubmed]
  2. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Misbahuddin, A., Placzek, M.R., Chaudhuri, K.R., Wood, N.W., Bhatia, K.P., Warner, T.T. Neurology (2002) [Pubmed]
  3. Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes. Lowe, N., Kirley, A., Hawi, Z., Sham, P., Wickham, H., Kratochvil, C.J., Smith, S.D., Lee, S.Y., Levy, F., Kent, L., Middle, F., Rohde, L.A., Roman, T., Tahir, E., Yazgan, Y., Asherson, P., Mill, J., Thapar, A., Payton, A., Todd, R.D., Stephens, T., Ebstein, R.P., Manor, I., Barr, C.L., Wigg, K.G., Sinke, R.J., Buitelaar, J.K., Smalley, S.L., Nelson, S.F., Biederman, J., Faraone, S.V., Gill, M. Am. J. Hum. Genet. (2004) [Pubmed]
  4. A study of chromosome 4p markers and dopamine D5 receptor gene in schizophrenia and bipolar disorder. Asherson, P., Mant, R., Williams, N., Cardno, A., Jones, L., Murphy, K., Collier, D.A., Nanko, S., Craddock, N., Morris, S., Muir, W., Blackwood, B., McGuffin, P., Owen, M.J. Mol. Psychiatry (1998) [Pubmed]
  5. Localization of the D5 dopamine receptor gene to human chromosome 4p15.1-p15.3, centromeric to the Huntington's disease locus. Eubanks, J.H., Altherr, M., Wagner-McPherson, C., McPherson, J.D., Wasmuth, J.J., Evans, G.A. Genomics (1992) [Pubmed]
  6. Antisociality, substance dependence, and the DRD5 gene: a preliminary study. Vanyukov, M.M., Moss, H.B., Kaplan, B.B., Kirillova, G.P., Tarter, R.E. Am. J. Med. Genet. (2000) [Pubmed]
  7. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Collier, D.A., Barrett, T.G., Curtis, D., Macleod, A., Arranz, M.J., Maassen, J.A., Bundey, S. Am. J. Hum. Genet. (1996) [Pubmed]
  8. The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease. Sobell, J.L., Lind, T.J., Sigurdson, D.C., Zald, D.H., Snitz, B.E., Grove, W.M., Heston, L.L., Sommer, S.S. Hum. Mol. Genet. (1995) [Pubmed]
  9. Transmission disequilibrium testing of dopamine-related candidate gene polymorphisms in ADHD: confirmation of association of ADHD with DRD4 and DRD5. Kustanovich, V., Ishii, J., Crawford, L., Yang, M., McGough, J.J., McCracken, J.T., Smalley, S.L., Nelson, S.F. Mol. Psychiatry (2004) [Pubmed]
  10. Linkage disequilibrium mapping at DAT1, DRD5 and DBH narrows the search for ADHD susceptibility alleles at these loci. Hawi, Z., Lowe, N., Kirley, A., Gruenhage, F., Nöthen, M., Greenwood, T., Kelsoe, J., Fitzgerald, M., Gill, M. Mol. Psychiatry (2003) [Pubmed]
  11. Human dopamine D5 receptor pseudogenes. Nguyen, T., Bard, J., Jin, H., Taruscio, D., Ward, D.C., Kennedy, J.L., Weinshank, R., Seeman, P., O'Dowd, B.F. Gene (1991) [Pubmed]
  12. Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1. Sherrington, R., Mankoo, B., Attwood, J., Kalsi, G., Curtis, D., Buetow, K., Povey, S., Gurling, H. Genomics (1993) [Pubmed]
  13. Dopamine system genes and attention deficit hyperactivity disorder: a meta-analysis. Maher, B.S., Marazita, M.L., Ferrell, R.E., Vanyukov, M.M. Psychiatr. Genet. (2002) [Pubmed]
  14. Candidate gene studies in focal dystonia. Sibbing, D., Asmus, F., König, I.R., Tezenas du Montcel, S., Vidailhet, M., Sangla, S., Oertel, W.H., Brice, A., Ziegler, A., Gasser, T., Bandmann, O. Neurology (2003) [Pubmed]
  15. Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD). Li, D., Sham, P.C., Owen, M.J., He, L. Hum. Mol. Genet. (2006) [Pubmed]
  16. An association study of DRD5 with smoking initiation and progression to nicotine dependence. Sullivan, P.F., Neale, M.C., Silverman, M.A., Harris-Kerr, C., Myakishev, M.V., Wormley, B., Webb, B.T., Ma, Y., Kendler, K.S., Straub, R.E. Am. J. Med. Genet. (2001) [Pubmed]
  17. Chromosomal localization of the gastric and brain receptors for cholecystokinin (CCKAR and CCKBR) in human and mouse. Huppi, K., Siwarski, D., Pisegna, J.R., Wank, S. Genomics (1995) [Pubmed]
  18. Examining for association between candidate gene polymorphisms in the dopamine pathway and attention-deficit hyperactivity disorder: a family-based study. Payton, A., Holmes, J., Barrett, J.H., Hever, T., Fitzpatrick, H., Trumper, A.L., Harrington, R., McGuffin, P., O'Donovan, M., Owen, M., Ollier, W., Worthington, J., Thapar, A. Am. J. Med. Genet. (2001) [Pubmed]
  19. Mapping susceptibility loci in attention deficit hyperactivity disorder: preferential transmission of parental alleles at DAT1, DBH and DRD5 to affected children. Daly, G., Hawi, Z., Fitzgerald, M., Gill, M. Mol. Psychiatry (1999) [Pubmed]
  20. Transcription of a human dopamine D5 pseudogene. Nguyen, T., Sunahara, R., Marchese, A., Van Tol, H.H., Seeman, P., O'Dowd, B.F. Biochem. Biophys. Res. Commun. (1991) [Pubmed]
  21. Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. Brancati, F., Valente, E.M., Castori, M., Vanacore, N., Sessa, M., Galardi, G., Berardelli, A., Bentivoglio, A.R., Defazio, G., Girlanda, P., Abbruzzese, G., Albanese, A., Dallapiccola, B. J. Neurol. Neurosurg. Psychiatr. (2003) [Pubmed]
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