GNA11 Gene

The GNA11 gene (GNA11 stands for "G Protein Subunit Alpha 11") is a protein coding gene located on chromosome 19p13.3Z.

Diseases associated with GNA11 include:

• Hypocalciuric Hypercalcemia, Familial, Type II (HH2).
• Hypocalcemia, Autosomal Dominant 2 (HYPOC2)
• Aldosterone-producing adenomas (Zhou J et al. 2021)
• Choroidal melanomas

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

The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G-proteins), which act as modulators or transducers in various transmembrane signaling systems. The G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Patients with HHC2 and HYPOC2 exhibit decreased and increased sensitivity, respectively, to changes in extracellular calcium concentration.

Guanine nucleotide-binding proteins(G-proteins) are involved as modulators or transducers in various transmembrane signaling systems (Maeda S et al. (2019). Act as activators of phospholipase C.Furthermore, they mediate FFAR4 signaling in response to long-chain fatty acids (LCFAs) (Alvarez-Curto E et al. 2016). Together with the GNAQ protein, GNP proteins appear to be required for heart development.

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7. Van Raamsdonk CD et al (2004) Effects of G-protein mutations on skin color. Nat Genet 36:961-968.
8. Zhou J et al (2021) Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nat Genet 53:1360-1372.