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Genetics Home Reference: your guide to understanding genetic conditions
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GPCR gene family

Reviewed August 2008

What are the GPCR genes?

Genes in the GPCR family provide instructions for making proteins called G protein-coupled receptors. These receptors are present in cells and tissues throughout the body. The receptors span the cell membrane, so that one end of the protein projects from the outer surface of the cell and the other end remains inside the cell. This structure allows the receptors to relay chemical signals from outside the cell to the interior of the cell.

G protein-coupled receptors interact with a wide variety of molecules on the outer surface of cells. Each receptor attaches (binds) to one or a few specific molecules, fitting together like a lock and its key. This binding activates the receptor, which changes its shape. The receptor can then activate proteins called G proteins within cells. In a process called signal transduction, active G proteins trigger a complex network of signaling pathways that ultimately influence many cell functions.

Researchers have identified more than a thousand G protein-coupled receptors in humans and other organisms. Many of these receptors are predicted to be olfactory receptors, which allow organisms to recognize different smells. Other G protein-coupled receptors are involved in vision, the immune system, and the autonomic nervous system (which controls involuntary body functions such as heart rate and blood pressure). Additionally, several major brain chemicals (neurotransmitters) relay signals between nerve cells using G protein-coupled receptors. These neurotransmitters are critical for regulating behavior and mood.

G protein-coupled receptors are involved in many human diseases, including various forms of cancer. Researchers estimate that about half of all currently available medications have been designed to target these receptors.

Which genes are included in the GPCR gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the GPCR family (http://www.genenames.org/genefamilies/GPCR).

Genetics Home Reference summarizes the normal function and health implications of these members of the GPCR gene family: AGTR1, DRD3, DRD5, EDNRB, GHRHR, GPR56, GPR98, GPR143, GRM6, LPAR6, MC1R, OPN1LW, OPN1MW, OPN1SW, PROKR2, and RHO.

What conditions are related to genes in the GPCR gene family?

Genetics Home Reference includes these conditions related to genes in the GPCR gene family:

  • autosomal dominant congenital stationary night blindness
  • autosomal recessive congenital stationary night blindness
  • autosomal recessive hypotrichosis
  • benign essential blepharospasm
  • color vision deficiency
  • Hirschsprung disease
  • isolated growth hormone deficiency
  • Kallmann syndrome
  • ocular albinism
  • oculocutaneous albinism
  • polymicrogyria
  • renal tubular dysgenesis
  • retinitis pigmentosa
  • Usher syndrome
  • Waardenburg syndrome

Where can I find additional information about the GPCR gene family?

You may find the following resources about the GPCR gene family helpful.

  • Molecular Cell Biology (fourth edition, 2000): G Protein-Coupled Receptors and Their Effectors (http://www.ncbi.nlm.nih.gov/books/NBK21718/) (U.S. National Library of Medicine)
  • STKE Focus Issue on GPCRs: The Evolution of G Protein-Coupled Receptor Signaling (http://stke.sciencemag.org/cgi/content/full/sigtrans;2001/104/eg3) (American Association for the Advancement of Science)
  • IUPHAR G protein-coupled receptor database (http://www.iuphar-db.org/DATABASE/ReceptorFamiliesForward?type=GPCR) (International Union of Basic and Clinical Pharmacology)
  • The Cell: A Molecular Approach (second edition, 2000): G Protein-Coupled Receptors (http://www.ncbi.nlm.nih.gov/books/NBK9866/) (U.S. National Library of Medicine)
  • Neuroscience (second edition, 2001): G-Proteins and Their Molecular Targets (http://www.ncbi.nlm.nih.gov/books/NBK10832/) (U.S. National Library of Medicine)

What glossary definitions help with understanding the GPCR gene family?

autonomic nervous system ; cancer ; cell ; cell membrane ; dopamine ; growth hormone ; hormone ; immune system ; involuntary ; nervous system ; neurotransmitters ; protein ; receptor ; second messenger ; signal transduction ; transduction

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

References

These sources were used to develop the Genetics Home Reference summary for the GPCR gene family.

  • Fredriksson R, Lagerström MC, Lundin LG, Schiöth HB. The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints. Mol Pharmacol. 2003 Jun;63(6):1256-72. (http://www.ncbi.nlm.nih.gov/pubmed/12761335?dopt=Abstract)
  • Kroeze WK, Sheffler DJ, Roth BL. G-protein-coupled receptors at a glance. J Cell Sci. 2003 Dec 15;116(Pt 24):4867-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14625380?dopt=Abstract)
  • Marinissen MJ, Gutkind JS. G-protein-coupled receptors and signaling networks: emerging paradigms. Trends Pharmacol Sci. 2001 Jul;22(7):368-76. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11431032?dopt=Abstract)
  • Kobilka BK. G protein coupled receptor structure and activation. Biochim Biophys Acta. 2007 Apr;1768(4):794-807. Epub 2006 Nov 15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17188232?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: August 2008
Published: December 22, 2014