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Gene Symbol |
GNAQ |
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Aliases |
CMC1, G-ALPHA-q, GAQ, SWS |
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Entrez Gene ID |
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Gene Name |
G protein subunit alpha q |
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Chromosomal Location |
9q21.2 |
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HGNC ID |
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Summary |
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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Guanine nucleotide-binding protein G(q) subunit alpha, epididymis secretory sperm binding protein, guanine nucleotide binding protein (G protein), q polypeptide, guanine nucleotide-binding protein alpha-q |
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Function |
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). |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF00503 |
G-alpha |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000445122 |
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P26439 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Blood Coagulation Disorders |
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Cardiovascular Diseases |
Capillary malformation |
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Cardiovascular Abnormalities |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Nevus flammeus |
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Endocrine System Diseases |
PCOS |
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Neoplasms |
Sturge-Weber Syndrome |
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Uveal melanoma |
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Renal Disorder |
Glomerular Hyalinosis |
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Glomerulosclerosis |
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References |
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Klenke Stefanie, Tan Susanne, Hahn Susanne, Mann Klaus, Hauner Hans, Manthey Iris, Peters Jurgen, Siffert Winfried, Frey Ulrich H |
Institut fur Pharmakogenetik, Universitat Duisburg-Essen and Universitatsklinikum Essen, Essen, Germany. |
Pharmacogenet Genomics. 2010 Aug;20(8):476-84. doi: 10.1097/FPC.0b013e32833b7497. |
Abstract
OBJECTIVES: The G-protein Gq, encoded by GNAQ, is involved in glucose metabolism. The GNAQ promoter harbours three polymorphisms. The TT(-695/-694)GC polymorphism was already shown to affect Gq transcription. Accordingly, we (i) characterized the GNAQ promoter polymorphisms G(-173)A and G(-168)A, (ii) investigated potential influences upon the TT(-695/-694)GC polymorphism and (iii) studied the associations with metabolic abnormalities in polycystic ovary syndrome (PCOS). METHODS: Characterization of the polymorphisms was performed with electrophoretic mobility shift assays and reporter assays. Inhibition of lipolysis and Gq expression were measured in adipocytes isolated from female mammary tissue. We genotyped 266 healthy Caucasians, 265 women with PCOS, and 293 healthy, age-matched female controls to associate GNAQ promoter polymorphisms and haplotypes with anthropometric and metabolic variables. RESULTS: The A(-168) allele was associated with significantly decreased transcriptional activity and altered transcription factor binding, whereas the G(-173)A polymorphism appeared functionally silent. Linkage and haplotype frequencies analysis resulted in four common haplotypes. In adipose tissue, a 44% higher Gq mRNA concentration was observed in homozygous GC(-695/-694)-G(-168) haplotypes compared with homozygous TT(-695/-694)-G(-168) haplotypes (P=0.046). This was associated with increased insulin inhibition of lipolysis in isolated adipocytes. In PCOS patients, the homozygous GC-G haplotype was associated with decreased insulin resistance and body mass index (BMI) compared with the homozygous TT-G haplotype (homeostatic model assessment of insulin resistance: 3.4+/-0.4 vs. 5.6+/-0.7 mmol/l x mmol/l2, P=0.001; fasting insulin: 86.6+/-11.9 vs. 128.8+/-16.5 pmol/l, P=0.003; BMI: 29.3+/-1.2 vs. 33.9+/-1.3 kg/m2, P=0.002). No association with BMI was found in healthy women. CONCLUSION: G(-168)A is functionally relevant and in linkage with TT(-695/-694)GC. GNAQ promoter diplotypes are associated with insulin resistance and obesity in PCOS. |
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