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GPR56

Family: Class B Orphans

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Agonists
Tissue Distribution
Expression Datasets
Physiological Consequences of Altering Gene Expression
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
General Comments
References
Gene and Protein Information
class B G protein-coupled receptor
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 7 693 16q12.2-q21 GPR56 G protein-coupled receptor 56 2
Mouse 7 687 8 D1 Gpr56 G protein-coupled receptor 56
Rat 7 687 19p13 Gpr56 G protein-coupled receptor 56
Previous and Unofficial Names
BFPP
DKFZp781L1398
TM7LN4
TM7XN1
G-protein coupled receptor 56
Cyt28
Database Links
Ensembl ENSG00000205336 (Hs), ENSMUSG00000031785 (Mm)
Entrez Gene 9289 (Hs), 14766 (Mm), 260326 (Rn)
GeneCards GPR56 (Hs)
GenitoUrinary Development Molecular Anatomy Project Gpr56 (Mm)
HomoloGene 4156 (Hs)
Human Protein Reference Database 06824 (Hs)
InterPro Q9Y653 (Hs), Q8K209 (Mm), Q8K3V3 (Rn)
KEGG Gene hsa:9289 (Hs), mmu:14766 (Mm), rno:260326 (Rn)
OMIM 604110 (Hs)
Orphanet Gene ORPHA122266 (Hs)
PharmGKB Gene PA28901 (Hs)
PhosphoSitePlus Q9Y653 (Hs), Q8K209 (Mm), Q8K3V3 (Rn)
Protein Ontology (PRO) PRO:000008189 (Hs)
RefSeq Nucleotide NM_005682 (Hs), NM_018882 (Mm), NM_152242 (Rn)
RefSeq Protein NP_005673 (Hs), NP_061370 (Mm), NP_689448 (Rn)
TreeFam ENSG00000205336 (Hs), ENSMUSG00000031785 (Mm)
UniGene Hs. 513633 (Hs)
UniProt Q9Y653 (Hs), Q8K209 (Mm), Q8K3V3 (Rn)
Wikipedia GPR56
Orphan and other 7TM receptors
Agonist Comments
No ligands identified: orphan receptor.
Tissue Distribution
Widely expressed. Highest in thyroid, testis, heart, brain, placenta, lung.
Species:  Human
Technique:  Northern blotting.
References:  2
Expression Datasets

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Log average relative transcript abundance in mouse tissues measured by qPCR from Regard, J.B., Sato, I.T., and Coughlin, S.R. (2008). Anatomical profiling of G protein-coupled receptor expression. Cell, 135(3): 561-71. [PMID:18984166] [Raw data: website]

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Physiological Consequences of Altering Gene Expression
Expression of GPR56 is inversely proportional to the metastatic potential of human melanoma cell lines.
Species:  Mouse
Tissue: 
Technique: 
References:  5-6
Phenotypes, Alleles and Disease Models Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Gpr56tm1Lex Gpr56tm1Lex/Gpr56tm1Lex
involves: 129 * BALB/c * C57BL/6 * FVB/N		 MGI:1340051  MP:0008030 abnormal Cajal-Retzius cell morphology PMID: 18509043 
Gpr56tm1Lex Gpr56tm1Lex/Gpr56tm1Lex
involves: 129 * BALB/c * C57BL/6 * FVB/N		 MGI:1340051  MP:0000788 abnormal cerebral cortex morphology PMID: 18509043 
Gpr56tm1Lex Gpr56tm1Lex/Gpr56tm1Lex
involves: 129 * BALB/c * C57BL/6 * FVB/N		 MGI:1340051  MP:0006009 abnormal neuronal migration PMID: 18509043 
Gpr56tm1Lex Gpr56tm1Lex/Gpr56tm1Lex
involves: 129 * BALB/c * C57BL/6 * FVB/N		 MGI:1340051  MP:0003648 abnormal radial glial cell morphology PMID: 18509043 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Bilateral frontoparietal polymicrogyria
OMIM:  606854
Orphanet:  101070
Comments:  A human brain cortical malformation called bilateral frontoparietal polymicrogyria cortex is associated with one of eleven different mutations of GPR56.
References:  3-4
Mutations not determined
General Comments
The C-terminal domain of transglutaminase TG2 consisting of two beta barrel domains has been found to bind to GPR56 [5] but has not yet been shown to activate the receptor.

Full coding sequence human cDNA is publicly available: IMAGE:3139174 [1] has Gln306 -> His a known polymorphism with 7% frequency, IMAGE:415209 [1] contains the more common allele.

REFERENCES

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1. Lennon, G., Auffray, C., Polymeropoulos, M. and Soares, M. B. (1996) The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics, 33: 151-152. [PMID:8617505]

2. Liu, M., Parker, R. M., Darby, K., Eyre, H. J., Copeland, N. G., Crawford, J., Gilbert, D. J., Sutherland, G. R., Jenkins, N. A. and Herzog, H. (1999) GPR56, a novel secretin-like human G-protein-coupled receptor gene. Genomics, 55: 296-305. [PMID:10049584]

3. Piao, X., Chang, B. S., Bodell, A., Woods, K., Benzeev, B., Topcu, M., Guerrini, R., Goldberg-Stern, H., Sztriha, L., Dobyns, W. B., Barkovich, A. J. and Walsh, C. A. (2005) Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol, 58: 680-687. [PMID:16240336]

4. Piao, X., Hill, R. S., Bodell, A., Chang, B. S., Basel-Vanagaite, L., Straussberg, R., Dobyns, W. B., Qasrawi, B., Winter, R. M., Innes, A. M., Voit, T., Ross, M. E., Michaud, J. L., Déscarie, J. C., Barkovich, A. J. and Walsh, C. A. (2004) G protein-coupled receptor-dependent development of human frontal cortex. Science, 303: 2033-2036. [PMID:15044805]

5. Xu, L., Begum, S., Hearn, J. D. and Hynes, R. O. (2006) 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, 103: 9023-9028. [PMID:16757564]

6. Zendman, A. J., Cornelissen, I. M., Weidle, U. H., Ruiter, D. J. and van Muijen, G. N. (1999) TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential. FEBS Lett, 446: 292-298. [PMID:10100861]

To cite this database page, please use the following:

Tom I. Bonner.
Class B Orphans: GPR56. Last modified on 13/02/2013. Accessed on 21/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=186.


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