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Genetics Home Reference: your guide to understanding genetic conditions
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GPR56

Reviewed June 2009

What is the official name of the GPR56 gene?

The official name of this gene is “G protein-coupled receptor 56.”

GPR56 is the gene's official symbol. The GPR56 gene is also known by other names, listed below.

What is the normal function of the GPR56 gene?

The GPR56 gene provides instructions for making a protein that is critical for normal brain development. Before birth, the GPR56 protein appears to be essential for the normal growth and movement (migration) of nerve cells (neurons) in a part of the brain called the cerebral cortex. This outer layer of the brain carries out many important functions, such as sensation, voluntary muscle movement, thought, planning, and memory.

Although the GPR56 protein has been studied most extensively in the brain, it is active in many of the body's tissues. The GPR56 protein interacts with other proteins on the cell surface to trigger a series of chemical signals within the cell. Studies suggest that GPR56 signaling may play an important role in attaching cells to one another (cell adhesion).

Does the GPR56 gene share characteristics with other genes?

The GPR56 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 GPR56 gene related to health conditions?

polymicrogyria - caused by mutations in the GPR56 gene

At least eleven mutations in the GPR56 gene have been identified in people with a severe form of polymicrogyria called bilateral frontoparietal polymicrogyria (BFPP). This disorder causes intellectual disability, delayed development, problems with speech and movement, and recurrent seizures (epilepsy). Most of the identified mutations change a single protein building block (amino acid) in the GPR56 protein. These mutations interfere with the normal processing of the protein. The abnormal protein becomes trapped within the cell, where it is unable to reach the cell surface to carry out its normal signaling functions.

A loss of GPR56 function likely disrupts the normal migration of neurons in the developing brain. As a result, certain regions of the cerebral cortex—areas known as the frontal and parietal lobes—develop too many folds (called gyri), and the folds are unusually small. These brain abnormalities cause intellectual disability and the other neurological problems associated with bilateral frontoparietal polymicrogyria.

Where is the GPR56 gene located?

Cytogenetic Location: 16q13

Molecular Location on chromosome 16: base pairs 57,619,529 to 57,665,031

The GPR56 gene is located on the long (q) arm of chromosome 16 at position 13.

The GPR56 gene is located on the long (q) arm of chromosome 16 at position 13.

More precisely, the GPR56 gene is located from base pair 57,619,529 to base pair 57,665,031 on chromosome 16.

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 GPR56?

You and your healthcare professional may find the following resources about GPR56 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 GPR56 gene or gene products?

  • 7-transmembrane protein with no EGF-like N-terminal domains-1
  • DKFZp781L1398
  • EGF-TM7-like
  • GPR56_HUMAN
  • TM7LN4
  • TM7XN1

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 GPR56?

amino acid ; bilateral ; cell ; cell adhesion ; cerebral cortex ; disability ; epilepsy ; gene ; neurological ; protein ; receptor ; transmembrane ; voluntary muscle

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

References

  • Iguchi T, Sakata K, Yoshizaki K, Tago K, Mizuno N, Itoh H. Orphan G protein-coupled receptor GPR56 regulates neural progenitor cell migration via a G alpha 12/13 and Rho pathway. J Biol Chem. 2008 May 23;283(21):14469-78. doi: 10.1074/jbc.M708919200. Epub 2008 Mar 31. (http://www.ncbi.nlm.nih.gov/pubmed/18378689?dopt=Abstract)
  • Jin Z, Tietjen I, Bu L, Liu-Yesucevitz L, Gaur SK, Walsh CA, Piao X. Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet. 2007 Aug 15;16(16):1972-85. Epub 2007 Jun 18. (http://www.ncbi.nlm.nih.gov/pubmed/17576745?dopt=Abstract)
  • Ke N, Ma H, Diedrich G, Chionis J, Liu G, Yu DH, Wong-Staal F, Li QX. Biochemical characterization of genetic mutations of GPR56 in patients with bilateral frontoparietal polymicrogyria (BFPP). Biochem Biophys Res Commun. 2008 Feb 8;366(2):314-20. Epub 2007 Nov 26. (http://www.ncbi.nlm.nih.gov/pubmed/18042463?dopt=Abstract)
  • Ke N, Sundaram R, Liu G, Chionis J, Fan W, Rogers C, Awad T, Grifman M, Yu D, Wong-Staal F, Li QX. Orphan G protein-coupled receptor GPR56 plays a role in cell transformation and tumorigenesis involving the cell adhesion pathway. Mol Cancer Ther. 2007 Jun;6(6):1840-50. (http://www.ncbi.nlm.nih.gov/pubmed/17575113?dopt=Abstract)
  • Li S, Jin Z, Koirala S, Bu L, Xu L, Hynes RO, Walsh CA, Corfas G, Piao X. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci. 2008 May 28;28(22):5817-26. doi: 10.1523/JNEUROSCI.0853-08.2008. (http://www.ncbi.nlm.nih.gov/pubmed/18509043?dopt=Abstract)
  • Liu M, Parker RM, Darby K, Eyre HJ, Copeland NG, Crawford J, Gilbert DJ, Sutherland GR, Jenkins NA, Herzog H. GPR56, a novel secretin-like human G-protein-coupled receptor gene. Genomics. 1999 Feb 1;55(3):296-305. (http://www.ncbi.nlm.nih.gov/pubmed/10049584?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9289)
  • Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia. 2009 Jun;50(6):1344-53. doi: 10.1111/j.1528-1167.2008.01787.x. Epub 2008 Oct 6. (http://www.ncbi.nlm.nih.gov/pubmed/19016831?dopt=Abstract)
  • Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26;303(5666):2033-6. (http://www.ncbi.nlm.nih.gov/pubmed/15044805?dopt=Abstract)
  • Shashidhar S, Lorente G, Nagavarapu U, Nelson A, Kuo J, Cummins J, Nikolich K, Urfer R, Foehr ED. GPR56 is a GPCR that is overexpressed in gliomas and functions in tumor cell adhesion. Oncogene. 2005 Mar 3;24(10):1673-82. (http://www.ncbi.nlm.nih.gov/pubmed/15674329?dopt=Abstract)
  • Xu L, Begum S, Hearn JD, Hynes RO. GPR56, an atypical G protein-coupled receptor, binds tissue transglutaminase, TG2, and inhibits melanoma tumor growth and metastasis. Proc Natl Acad Sci U S A. 2006 Jun 13;103(24):9023-8. Epub 2006 Jun 6. (http://www.ncbi.nlm.nih.gov/pubmed/16757564?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: June 2009
Published: December 22, 2014