Reviewed May 2010
What is the official name of the DRD5 gene?
The official name of this gene is “dopamine receptor D5.”
DRD5 is the gene's official symbol. The DRD5 gene is also known by other names, listed below.
What is the normal function of the DRD5 gene?
The DRD5 gene provides instructions for making a protein called dopamine receptor D5, which is found in the brain. This protein works together with a chemical messenger (neurotransmitter) called dopamine. Dopamine fits into the D5 receptor like a key in a lock, which triggers chemical reactions within nerve cells. Dopamine signaling has many critical functions in the brain, including regulation of attention, mood, memory, learning, and movement.
Does the DRD5 gene share characteristics with other genes?
The DRD5 gene belongs to a family of genes called GPCR (G protein-coupled receptors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the DRD5 gene related to health conditions?
- benign essential blepharospasm - associated with the DRD5 gene
Several studies have examined a possible relationship between a common variation (polymorphism) in the DRD5 gene and benign essential blepharospasm. The results of these studies have been mixed. Some research has suggested that the polymorphism, a short repeated segment of DNA known as allele 2, occurs more often in people with benign essential blepharospasm than in people without the disorder. However, other studies have found no connection between this polymorphism and benign essential blepharospasm. Researchers are still working to clarify whether variants in the DRD5 gene are associated with this disorder.
- other disorders - associated with the DRD5 gene
Other polymorphisms in the DRD5 gene appear to be associated with a common behavioral condition called attention deficit hyperactivity disorder (ADHD). This condition, which typically begins in childhood, is characterized by overactivity, impulsive behavior, and difficulty paying attention.
Most studies of the DRD5 gene and ADHD have focused on a polymorphism located near the beginning of the gene. The region consists of two DNA building blocks (base pairs) that are repeated multiple times in a row. The size of this segment ranges from 134 to 156 base pairs. Multiple studies have suggested that a particular variant, which is 148-base pairs long, is associated with a moderately increased risk of ADHD. However, it is unclear how this polymorphism affects the risk of the disorder.
Variations in the DRD5 gene are among many factors under study to help explain the causes of ADHD. A large number of genetic and environmental factors, most of which remain unknown, likely determine the risk of developing this complex condition.
Where is the DRD5 gene located?
Cytogenetic Location: 4p16.1
Molecular Location on chromosome 4: base pairs 9,781,633 to 9,784,008
The DRD5 gene is located on the short (p) arm of chromosome 4 at position 16.1.
More precisely, the DRD5 gene is located from base pair 9,781,633 to base pair 9,784,008 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about DRD5?
You and your healthcare professional may find the following resources about DRD5 helpful.
Educational resources - Information pages
- Basic Neurochemistry (sixth edition, 1999): Dopamine Receptors (http://www.ncbi.nlm.nih.gov/books/NBK27980/)
- National Institute of Mental Health: Attention Deficit Hyperactivity Disorder (ADHD) (http://www.nimh.nih.gov/health/publications/attention-deficit-hyperactivity-disorder/index.shtml)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for DRD5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1816%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28DRD5%5BTIAB%5D%29%20OR%20%28dopamine%20receptor%20D5%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog
- ATTENTION DEFICIT-HYPERACTIVITY DISORDER (http://omim.org/entry/143465)
- DOPAMINE RECEPTOR D5 (http://omim.org/entry/126453)
Research Resources - Tools for researchers
- HGNC Gene Family: Dopamine receptors (http://www.genenames.org/cgi-bin/genefamilies/set/181)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=3026)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1816)
What other names do people use for the DRD5 gene or gene products?
- d(1B) dopamine receptor
- D1beta dopamine receptor
- d(5) dopamine receptor
- dopamine D5 receptor
- dopamine receptor D1B
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding DRD5?
attention deficit hyperactivity disorder ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord. 2007 Jan 15;22(2):162-6. (http://www.ncbi.nlm.nih.gov/pubmed/17133500?dopt=Abstract)
- Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a meta-analytic review. Hum Genet. 2009 Jul;126(1):51-90. doi: 10.1007/s00439-009-0694-x. Epub 2009 Jun 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19506906?dopt=Abstract)
- Li D, Sham PC, Owen MJ, He L. Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD). Hum Mol Genet. 2006 Jul 15;15(14):2276-84. Epub 2006 Jun 14. (http://www.ncbi.nlm.nih.gov/pubmed/16774975?dopt=Abstract)
- Lowe N, Kirley A, Hawi Z, Sham P, Wickham H, Kratochvil CJ, Smith SD, Lee SY, Levy F, Kent L, Middle F, Rohde LA, Roman T, Tahir E, Yazgan Y, Asherson P, Mill J, Thapar A, Payton A, Todd RD, Stephens T, Ebstein RP, Manor I, Barr CL, Wigg KG, Sinke RJ, Buitelaar JK, Smalley SL, Nelson SF, Biederman J, Faraone SV, Gill M. Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes. Am J Hum Genet. 2004 Feb;74(2):348-56. Epub 2004 Jan 19. (http://www.ncbi.nlm.nih.gov/pubmed/14732906?dopt=Abstract)
- Mill J, Curran S, Richards S, Taylor E, Asherson P. Polymorphisms in the dopamine D5 receptor (DRD5) gene and ADHD. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):38-42. (http://www.ncbi.nlm.nih.gov/pubmed/14755441?dopt=Abstract)
- Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology. 2002 Jan 8;58(1):124-6. (http://www.ncbi.nlm.nih.gov/pubmed/11781417?dopt=Abstract)
- Misbahuddin A, Placzek MR, Warner TT. Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene. Adv Neurol. 2004;94:143-6. (http://www.ncbi.nlm.nih.gov/pubmed/14509667?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1816)
- Sibbing D, Asmus F, König IR, Tezenas du Montcel S, Vidailhet M, Sangla S, Oertel WH, Brice A, Ziegler A, Gasser T, Bandmann O. Candidate gene studies in focal dystonia. Neurology. 2003 Oct 28;61(8):1097-101. (http://www.ncbi.nlm.nih.gov/pubmed/14581671?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.