Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

DRD3

The information on this page was automatically extracted from online scientific databases.

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?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1814):

This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/P35462):

Dopamine receptor whose activity is mediated by G proteins which inhibit adenylyl cyclase. Promotes cell proliferation.

How are changes in the DRD3 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/P35462) provides the following information about the DRD3 gene's known or predicted involvement in human disease.

Tremor, hereditary essential 1 (ETM1): A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1814) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the DRD3 gene.
  • Hereditary essential tremor 1
  • Schizophrenia
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the DRD3 gene and its association with health conditions.
OMIM
Number
Title

Where is the DRD3 gene located?

Cytogenetic Location: 3q13.3

Molecular Location on chromosome 3: base pairs 114,128,709 to 114,199,406

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 114,128,709 to base pair 114,199,406 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.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

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

  • D3DR
  • ETM1
  • FET1

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?

alternative splicing ; autosomal ; autosomal dominant ; cell ; cell proliferation ; disability ; dopamine ; gene ; genetic variation ; hereditary ; inheritance ; isoforms ; mutation ; polymorphism ; proliferation ; receptor ; schizophrenia ; splicing ; susceptibility ; transcript ; tremor

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

 

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.

 
Published: March 2, 2015