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Gene Review

GPR56  -  G protein-coupled receptor 56

Homo sapiens

Synonyms: BFPP, BPPR, G-protein coupled receptor 56, Protein TM7XN1, TM7LN4, ...
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Disease relevance of GPR56


High impact information on GPR56

  • Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP) [4].
  • Immunofluorescence analysis of human glioma cells using anti-GPR56 antibodies demonstrate that GPR56 is expressed on the leading edge of membrane filopodia and colocalizes with alpha-actinin [2].
  • GPR56 diverges from other secretin-like family members in that it has an extremely large N-terminal extracellular region (381 amino acids) and contains a novel feature among this new subclass, consisting of four cysteine residues that define a GPCR proteolytic site (GPS motif) located just before the first transmembrane spanning domain [2].
  • In reporter assays, overexpression of GPR56 activates the NF-kappaB, PAI-1 and TCF transcriptional response elements [2].
  • The total length of the human GPR56 gene is approximately 15 kb, and it consists of 13 exons [5].

Biological context of GPR56

  • A novel gene product, GPR56, with homology to the seven transmembrane-domain receptor superfamily, has been cloned by PCR amplification using degenerate oligonucleotide primers and subsequent screening of a human heart cDNA library [5].

Anatomical context of GPR56

  • In situ hybridization analysis of human thyroid gland as well as rat heart and brain tissue confirms these results and identifies the hippocampus and hypothalamic nuclei as brain areas with particularly high expression of GPR56 mRNA [5].
  • Functional studies of the GPR56 gene product will yield insights not only into the causes of polymicrogyria but also into the mechanisms of normal cortical development and the regional patterning of the cerebral cortex [6].
  • TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential [7].


  1. GPR56, an atypical G protein-coupled receptor, binds tissue transglutaminase, TG2, and inhibits melanoma tumor growth and metastasis. Xu, L., Begum, S., Hearn, J.D., Hynes, R.O. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  2. GPR56 is a GPCR that is overexpressed in gliomas and functions in tumor cell adhesion. Shashidhar, S., Lorente, G., Nagavarapu, U., Nelson, A., Kuo, J., Cummins, J., Nikolich, K., Urfer, R., Foehr, E.D. Oncogene (2005) [Pubmed]
  3. Identification of novel VHL target genes and relationship to hypoxic response pathways. Maina, E.N., Morris, M.R., Zatyka, M., Raval, R.R., Banks, R.E., Richards, F.M., Johnson, C.M., Maher, E.R. Oncogene (2005) [Pubmed]
  4. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. 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., Walsh, C.A. Ann. Neurol. (2005) [Pubmed]
  5. GPR56, a novel secretin-like human G-protein-coupled receptor gene. Liu, M., Parker, R.M., Darby, K., Eyre, H.J., Copeland, N.G., Crawford, J., Gilbert, D.J., Sutherland, G.R., Jenkins, N.A., Herzog, H. Genomics (1999) [Pubmed]
  6. Genetics of the polymicrogyria syndromes. Jansen, A., Andermann, E. J. Med. Genet. (2005) [Pubmed]
  7. TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential. Zendman, A.J., Cornelissen, I.M., Weidle, U.H., Ruiter, D.J., van Muijen, G.N. FEBS Lett. (1999) [Pubmed]
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