Aliases for GNA11 Gene
External Ids for GNA11 Gene
Previous HGNC Symbols for GNA11 Gene
Previous GeneCards Identifiers for GNA11 Gene
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. [provided by RefSeq, Dec 2013]
GeneCards Summary for GNA11 Gene
GNA11 (G Protein Subunit Alpha 11) is a Protein Coding gene. Diseases associated with GNA11 include Hypocalciuric Hypercalcemia, Type Ii and Hypocalcemia, Autosomal Dominant 2. Among its related pathways are Thromboxane signalling through TP receptor and EphB-EphrinB Signaling. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNAQ.
UniProtKB/Swiss-Prot for GNA11 Gene
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator of phospholipase C.
Heterotrimeric G proteins are membrane bound GTPases that are linked to 7-TM receptors. Each G protein contains an alpha-, beta- and gamma-subunit and is bound to GDP in the 'off' state. Ligand binding causes a receptor conformational change, detaching the G protein and switching it 'on'.