14682 Ensembl ENSG00000156052 ENSMUSG00000024639 UniProt P50148 P21279 RefSeq (mRNA) NM_002072 NM_008139 RefSeq (protein) NP_002063 NP_002063.2 NP_032165 Location (UCSC) Chr 9: 77.72 – 78.03 Mb Chr 19: 16.11 – 16.36 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene ...

2024年12月25日 · GNAQ (G Protein Subunit Alpha Q) is a Protein Coding gene. Diseases associated with GNAQ include Sturge-Weber Syndrome and Capillary Malformations, Congenital.Among its related pathways are Thromboxane signalling through TP receptor and Development Angiotensin activation of ERK.Gene Ontology (GO) annotations related to this gene include GTP binding and obsolete signal transducer activity.

Sturge-Weber syndrome. At least one mutation in the GNAQ gene has been found to cause Sturge-Weber syndrome. Sturge-Weber syndrome is a condition that affects the development of certain blood vessels and often leads to three major features: a red or pink birthmark called a port-wine birthmark, brain abnormalities, and increased …

G 蛋白亚基αq： 该基因座编码鸟嘌呤核苷酸结合蛋白。编码的蛋白质是 Gq 类中的一个 alpha 亚基，将一个七跨膜结构域受体与磷脂酶 C-beta 的激活结合起来。该位点的突变与血小板活化和聚集的问题有关。 2 号染色体上存在一个相关的假基因。[RefSeq 提供，2010 年 11 月]

2025年1月6日 · A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] Diseases associated with GNAQ include Sturge-Weber Syndrome and Capillary Malformations, Congenital. Among its related pathways are Thromboxane signalling through TP receptor and Development Angiotensin activation of ERK. Gene Ontology (GO) annotations related to this ...

Overall, the frequency of mutations in the exon 4 of GNAQ and GNA11 genes is lower. In GNA11, most mutations are caused by C > T transitions at codon 183 (CGC), and CC > TT transitions at codons 182-183, which predict the replacement of arginine to cysteine (p.R183C) or histidine (p.R183H).Likewise, the few mutations reported to affect the codon 183 of GNAQ (CGA) are caused exclusively by G ...

Knockdown of GNAQ with siRNA-AuNPs effectively reduced downstream signals and decreased cell viability in GNAQ mutant uveal melanoma cells. These findings suggest that the recurrent somatic GNAQ mutation c.548G>A is the major determinant genetic factor for Sturge-Weber syndrome and imply that other mutated candidate gene(s) may exist in Sturge ...

2024年9月3日 · gnaq调节的钙信号和pkc活性对免疫细胞的活化、 增殖和效应功能具有重要影响。这表明，gnaq不仅在肿瘤中发挥作用，还可能参与了慢性炎症和自身免疫疾病的发生。 结论. gnaq蛋白通过其复杂的结构功能域，调控着多个关键的细胞信号通路。

2025年1月4日 · Mutation of GNAQ in a cytologically unusual choroidal melanoma in an 18-month-old child. Levasseur SD, et al. JAMA Ophthalmol, 2013 Jun. PMID 23572156; Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. Shirley MD, et al. N Engl J Med, 2013 May 23. PMID 23656586, Free PMC Article

2025年2月8日 · Gnaq expression by B cells is necessary for normal peripheral B cell development and tolerance induction and also plays a role in preventing early onset mortality in mice. In Galphaq-induced cardiomyopathy, myocyte contractile dysfunction is mediated, at least in part, by 1 or more oxidative posttranslational modifications of SERCA. ...