Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
9q21.2
Pathway
G-protein signaling
Protein [2]
Guanine nucleotide-binding protein G(q) subunit alpha
Synonyms [1]
G-ALPHA-q, GAQ, SWS, CMC1

GNAQ (guanine nucleotide binding protein [G protein], q polypeptide) is a gene that guanine nucleotide-binding protein G(q) subunit alpha, a subunit of one of the heterotrimeric guanine nucleotide binding proteins (G proteins). Oncogenic mutations result in a constitutively active Gα subunit (PMID: 1328859; PMID: 2549426). Receptor activation causes the dissociation of the Gα subunit from Gßγ. Both Gα and Gßγ can then activate downstream cellular signaling pathways (PMID: 1328859; PMID: 2549426).

GNAQ is altered in 0.64% of all cancers with melanoma, non-small cell lung carcinoma, colorectal adenocarcinoma, uterine corpus neoplasm, and breast carcinoma having the greatest prevalence of alterations [3].

GNAQ GENIE Cases - Top Diseases

The most common alterations in GNAQ are GNAQ Mutation (0.72%), GNAQ Q209P (0.10%), GNAQ Q209L (0.06%), GNAQ Amplification (0.05%), and GNAQ Loss (0.03%) [3].

GNAQ GENIE Cases - Top Alterations

Significance of GNAQ in Diseases

Uveal Melanoma +

Melanoma +

Malignant Solid Tumor +

Lymphoma +

Multiple Myeloma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.