Gene: GNA11

Alternate names for this Gene: FBH|FBH2|FHH2|GNA-11|HHC2|HYPOC2

Gene Summary: The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: G protein subunit alpha 11

Type of Gene: protein-coding

rs1057519742 in GNA11 gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs587777020 in GNA11 gene and HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 PMID 23802516 2013 Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

PMID 23782177 2013 A rude awakening--the perioperative sleep apnea epidemic.

rs587777019 in GNA11 gene and HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II (disorder) PMID 23802516 2013 Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

rs2629103 in GNA11 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1057519742 in GNA11 gene and Uveal melanoma PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 24141786 2014 Combined PKC and MEK inhibition in uveal melanoma with GNAQ and GNA11 mutations.

PMID 21444680 2011 Therapeutic implications of the emerging molecular biology of uveal melanoma.

rs1057519742 in GNA11 gene and melanoma PMID 22808163 2012 Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype.

PMID 2549426 1989 GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

PMID 1328859 1992 Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells.

PMID 21083380 2010 Mutations in GNA11 in uveal melanoma.

PMID 22733540 2012 Activating Q209L/P mutations in GNAQ or GNA11 (GNAQ/11) are present in approximately 80% of uveal melanomas.