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 (Guanine Nucleotide Binding Protein (G Protein), Q Polypeptide) 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 by GPCR and Ras signaling pathway. GO annotations related to this gene include GTP binding and signal transducer activity. An important paralog of this gene is GNA14.
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'.