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Description for Protein GPR56

G protein-coupled receptor 56
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 5)
Summary:
This gene encodes a member of the G protein-coupled receptor family. The protein contains 7 transmembrane domains and a mucin-like domain in the N-terminal region. The gene is implicated in the regulation of brain cortical patterning. The protein binds specifically to transglutaminase 2 in the extracellular space. Expression of this gene is downregulated in melanoma cell lines, and overexpression of this gene can suppress tumor growth and metastasis. Mutations in this gene result in bilateral frontoparietal polymicrogyria. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • GPS: G-protein-coupled receptor proteolytic site domain
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08450
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    TM7XN1; TM7LN4; EGF TM7 like; BFPP; Polymicrogyria; Bilateral frontoparietal; Seven transmembrane helix receptor; G protein-coupled receptor 56 isoform a; G protein-coupled receptor 56 isoform b
    Approved Symbol:
    GPR56
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 8
    Human (de-) phosphorylation sites: 8; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Polymicrogyria, bilateral frontoparietal(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 8 : 7
  • Isoform 7 : 7
  • Isoform 6 : 7
  • Isoform 5 : 7
  • Isoform 4 : 7
  • Isoform 3 : 7
  • Isoform 2 : 7
  • Isoform 1 : 7
    • Additional Identifiers:

    HPRD: 06824 Entrez Gene ID: 9289 OMIM ID: 604110 Swissprot Accession: B4DR54; B3KQV4; Q9Y653;