Aliases for GNAQ Gene
External Ids for GNAQ Gene
Previous GeneCards Identifiers for GNAQ Gene
This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
GeneCards Summary for GNAQ Gene
GNAQ (G Protein Subunit Alpha Q) is a Protein Coding gene. Diseases associated with GNAQ include Sturge-Weber Syndrome, Somatic, Mosaic and Capillary Malformations, Congenital, 1, Somatic, Mosaic. Among its related pathways are Signaling in Gap Junctions and Development Endothelin-1/EDNRA signaling. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNA11.
UniProtKB/Swiss-Prot for GNAQ Gene
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity).
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'.