GNAQ是致癌基因，编码蛋白（鸟嘌呤核苷酸结合蛋白Q多肽）是Q类G蛋白α亚基的成员，是包含异源三聚体鸟嘌呤核苷酸结合蛋白（G蛋白）三个亚基之一，是一种细胞内信号蛋白。这些G蛋白参与G蛋白偶联受体（GPCR）和下游效应途径（包括MAPK通路）之间的信号转导。GNAQ的突变通过蛋白激酶C的上调引起MAPK通路的激活。在209位密码子(类RAS样结构域内)发生的突变将GNAQ转变为一个起支配作用的癌基因，促成不含常见的BRAF和NRAS突变的黑色素瘤的发展。大约85%的葡萄膜黑色素瘤具有GNA11或GNAQ的互斥突变。GNAQ基因209号密码子突变的鉴定也可能有助于区分软脑膜黑色素细胞病变与黑色素神经鞘瘤。在其他类型的人类肿瘤中，GNAQ突变似乎相当罕见。

GNAQ (guanine nucleotide binding protein q polypeptide) gene encodes for members of the q class of G-protein alpha subunit, one of three subunits that comprise the heterotrimeric guanine nucleotide-binding proteins (G-proteins). These G-proteins participate in signal transduction between G-protein coupled receptors (GPCRs) and downstream effector pathways including the MAPK pathway. Mutations in GNAQ cause activation of the MAPK pathway through the upregulation of protein kinase C. Mutations in codon 209 (within the RAS-like domain) transform GNAQ into a dominant-acting oncogene that contributes to the development of a subset of melanocytic neoplasms that do not harbor the more common melanoma-associated somatic mutations in BRAF and NRAS. Approximately 85% of uveal melanomas harbor mutually exclusive mutations of either GNA11 or GNAQ. Identification of GNAQ codon 209 mutations may also be helpful in differentiating leptomeningeal melanocytic lesions from melanotic schwannoma. GNAQ mutations in other types of human neoplasms appear to be quite rare.

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