Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | GNAQ |
| Gene Name: | GNAQ |
| Protein Full Name: | Guanine nucleotide-binding protein G(q) subunit al |
| Alias: | G-ALPHA-q; GAQ; GBQ; GNAQ; guanine nucleotide binding protein (G protein) q polypeptide; guanine nucleotide-binding protein alpha-q; guanine nucleotide-binding protein G(q), alpha subunit |
| Mass (Da): | 42142 |
| Number AA: | 359 |
| UniProt ID: | P50148 |
| Locus ID: | 2776 |
| COSMIC ID: | GNAQ |
| Gene location on chromosome: | 9q21.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 27293 |
| Percent of cancer specimens with mutations: | 1.8 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | One main cluster at AA 209 with point mutations and 1 deletion without any complex mutations or insertions. |
| Commonly recorded point mutations: | Q209P (202); Q209L (190); |
| Normal role description: | GNAQ is q class an alpha subunit guanine nucleotide binding protein which has intrinsic GTP hydrolysis activity. GNAQ transduces the signal from ligand bound G-protein coupled receptors (GPCR) to effector proteins. Downstream effectors of GNAQ include phospholipase C-beta (PLC), p63-RhoGEF, Trio and Duet. GNAQ is a known activator of the MAP kinase signalling pathway. Somatic mutations of GNAQ are implicated in melanocytic neoplasia with 97% of mutations occuring the GTP nucleotide binding site at Q209. This mutation results in a constitutively activate form of GNAQ which is unable to hydrolyze GTP. GNAQ is classified as an oncogene. |
| Commentary on involvement of protein in cancer: | Q209 is located in the GTP binding site. Unclassified categories. Eye; Benign melanocytic nevus; TRUE (6%); (2/35); Mis-sense. Meninges; Malignant melanoma; (25%); (1/4); Mis-sense. Meninges; Melanocytoma; TRUE (50%); (10/20); Mis-sense. Skin; Benign melanocytic nevus; TRUE (19%); (41/214); Mis-sense. |