GNAQ gene

The GNAQ gene (GNAQ stands for "G Protein Subunit Alpha Q") is a protein-coding gene located on chromosome 9q21.2. This locus encodes a guanine nucleotide-binding protein (GNAQ protein). The encoded protein, an alpha subunit of the Gq class, couples a receptor with seven transmembrane domains to the activation of phospolipase C-beta.

Mutations at this locus have been associated with problems in platelet activation and aggregation.

Diseases associated with GNAQ include:

• Sturge-Weber syndrome
• uveal melanoma (Van Raamsdonk CD et al. 2009).
• blue nevi
• other capillary malformations (Galeffi F et al (2022).

Related signaling pathways include thromboxane signaling through the TP receptor and activation of ERK by developmental angiotensin. An important paralog of this gene is GNA11.

Guanine nucleotide-binding proteins(G-proteins) are involved as modulators or transducers in various transmembrane signaling systems. They are required for platelet activation. Furthermore, they regulate B cell selection and survival and are required to prevent B cell-dependent autoimmunity. Together with GNA11 required for heart development.

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3. Galeffi F et al (2022) A novel somatic mutation in GNAQ in a capillary malformation provides insight into molecular pathogenesis. Angiogenesis 25:493-502
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