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Genetics Home Reference: your guide to understanding genetic conditions
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DRD3

Reviewed February 2008

What is the official name of the DRD3 gene?

The official name of this gene is “dopamine receptor D3.”

DRD3 is the gene's official symbol. The DRD3 gene is also known by other names, listed below.

What is the normal function of the DRD3 gene?

The DRD3 gene provides instructions for making a protein called dopamine receptor D3, which is found in the brain. This protein responds to the chemical messenger (neurotransmitter) dopamine to trigger signals within the nervous system, including signals involved in producing physical movement.

Does the DRD3 gene share characteristics with other genes?

The DRD3 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 DRD3 gene related to health conditions?

essential tremor - associated with the DRD3 gene

Some studies have found the DRD3 gene to be associated with essential tremor. A DRD3 gene variant seen in some families affected by this disorder results in a dopamine receptor D3 protein in which the protein building block (amino acid) serine at position 9 is replaced with the amino acid glycine (written as Ser9Gly or S9G). This variant binds more strongly to dopamine, resulting in a stronger response to the neurotransmitter and possibly causing the involuntary shaking seen in essential tremor.

Where is the DRD3 gene located?

Cytogenetic Location: 3q13.3

Molecular Location on chromosome 3: base pairs 113,847,556 to 113,897,898

The DRD3 gene is located on the long (q) arm of chromosome 3 at position 13.3.

The DRD3 gene is located on the long (q) arm of chromosome 3 at position 13.3.

More precisely, the DRD3 gene is located from base pair 113,847,556 to base pair 113,897,898 on chromosome 3.

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 DRD3?

You and your healthcare professional may find the following resources about DRD3 helpful.

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for DRD3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=1814%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=((DRD3%5BTIAB%5D)%20OR%20(dopamine%20receptor%20D3%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/126451)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_DRD3.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1814)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=1814)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3024)

What other names do people use for the DRD3 gene or gene products?

  • D3DR
  • DRD3_HUMAN
  • ETM1
  • FET1
  • MGC149204
  • MGC149205

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 DRD3?

amino acid ; dopamine ; gene ; glycine ; involuntary ; nervous system ; protein ; receptor ; serine ; tremor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Deng H, Le W, Jankovic J. Genetics of essential tremor. Brain. 2007 Jun;130(Pt 6):1456-64. Epub 2007 Mar 12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17353225?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/1814)
  • Jeanneteau F, Funalot B, Jankovic J, Deng H, Lagarde JP, Lucotte G, Sokoloff P. A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. Proc Natl Acad Sci U S A. 2006 Jul 11;103(28):10753-8. Epub 2006 Jun 29. (http://www.ncbi.nlm.nih.gov/pubmed/16809426?dopt=Abstract)
  • Lucotte G, Lagarde JP, Funalot B, Sokoloff P. Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. Clin Genet. 2006 May;69(5):437-40. (http://www.ncbi.nlm.nih.gov/pubmed/16650084?dopt=Abstract)
  • OMIM: DOPAMINE RECEPTOR D3 (http://omim.org/entry/126451)
  • 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. 1990 Sep 13;347(6289):146-51. (http://www.ncbi.nlm.nih.gov/pubmed/1975644?dopt=Abstract)
  • Tan EK, Prakash KM, Fook-Chong S, Yih Y, Chua E, Lum SY, Wong MC, Pavanni R, Zhao Y. DRD3 variant and risk of essential tremor. Neurology. 2007 Mar 6;68(10):790-1. (http://www.ncbi.nlm.nih.gov/pubmed/17339592?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2008
Published: May 20, 2013