This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations inThis gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
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Function:
Disease:Defects in GPR56 are the cause of bilateral frontoparietal polymicrogyria (BFPP) [MIM:606854]. BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex.,Could be involved in cell-cell interactions.,similarity:Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.,similarity:Contains 1 GPS domain.,tissue specificity:Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells.,
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Cellular Localization:
Cell membrane ; Multi-pass membrane protein .; [ADGRG1 N-terminal fragment]: Secreted .; [ADGRG1 C-terminal fragment]: Membrane raft . Interaction with its ligand COL3A1 leads to the release of ADGRG1 NT from the membrane and triggers the association of ADGRG1 CT with lipid rafts. .
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Tissue Expression:
Detected in platelets (at protein level). Dysplastic nevi, radial growth phase primary melanomas, hematopoietic cells, tissue macrophages.