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FLASH GENE

Symbol

GNAQ

contributors: mct/pgu - updated : 23-01-2015

HGNC name	guanine nucleotide binding protein (G protein), q polypeptide
HGNC id	4390

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in uveal melanoma tumoral somatic mutation     gain of function in iris melanomas

Susceptibility

to accelerated mortality in African-American heart failure to insulin resistance and obesity in PCOS (polycystic ovary syndrome) to uveal melanoma, and rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]

Variant & Polymorphism other	-694/-695 promoter polymorphism alters transcription factor binding, increases promoter activity and adversely affects outcome in heart failure
	GNAQ promoter diplotypes are associated with insulin resistance and obesity in PCOS
	Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma, and in rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone ostéoporosis suppression of GNAQ signal may lead to a novel treatment in combination with PTH against osteoporosis allergy     potential new target to prevent or treat anaphylactic reactions

ANIMAL & CELL MODELS