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FLASH GENE

Symbol

GNB3

contributors: mct/pgu - updated : 01-06-2016

HGNC name	guanine nucleotide binding protein (G protein), beta polypeptide 3
HGNC id	4400

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CSNB9

Susceptibility

susceptibility factor in obesity in Inuits to essential hypertension and impaired left ventricular diastolic filling to diabetes only in subjects with low salt consumption to depression to variation of platelet aggregation in human whole blood

Variant & Polymorphism SNP	C825T, susceptibility to essential hypertension, obesity and cardiovascular disease
	C825T polymorphism were significantly associated with diabetes only in subjects with low salt consumption
	CC homozygotes at marker rs4963516 had higher mean diastolic (DBP), and mean arterial (MAP)blood pressure
	relationship between GNB3 C825T and depression
	GNB3 825CC genotype is associated with enhanced platelet aggregation

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Gnb3(-/-) cones produce stable responses with normal kinetics and saturating response amplitudes similar to that of the wild-type, suggesting that cone phototransduction can function efficiently without a GNB subunit