GNAQ

guanine nucleotide binding protein (G protein), q polypeptide

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function summary function summary

RAS family G-protein taking part in signal transduction to regulate intracellular calcium levels [Pubmed]

Suppresses Gene name Field Field Promotes
proliferative signalling suppression of growth escaping immunicresponse to cancer cell replicativeimmortality tumour promotinginflammation invasion and metastasis angiogenesis genome instabilityand mutations escaping programmedcell death change ofcellular energetics P S
This census gene has a hallmark. For more information please look [here].
role in cancer role in cancer oncogene
types of alteration in cancer types of alteration in cancer GOF recurrent mutations in uveal melanoma [Pubmed]; frequently mutated in uveal melanoma [Pubmed]; highly recurrent Q209L in uveal melanoma [Pubmed]
impact of mutation on function impact of mutation on function most recurrently mutated codon 209 maps to the catalytic domain of GNAQ, which is involved in GTPase activity, mutation of this codon inactivates the catalytic domain, preventing hydrolysis of GTP and locking GNAQ in its active, GTP-bound state [Pubmed]
proliferative signalling proliferative signalling
 

GOF mutation in codon 209 stimulates proliferation of melanocytes in mice [Pubmed]; GOF mutations activate PKC and MAPK signalling, stimulating cell proliferation in melanocytes [Pubmed]