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FLASH GENE

Symbol

GNAI2

contributors: mct - updated : 13-09-2017

HGNC name	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2
HGNC id	4385

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 constitutional germinal mutation       in periventricular nodular heterotopia and intellectual disability

Susceptibility

to high systolic blood pression

Variant & Polymorphism SNP	-318 C>G SNP impairs transcriptional activity through specific binding of Sp1 and is associated with high Systolic blood pression

Candidate gene	candidate genes for Noonan syndrome
Marker
Therapy target

ANIMAL & CELL MODELS

	Galpha(i2) (-/-) mice have a reduced ventricular effective refractory period and a predisposition to ventricular tachycardia when challenged with programmed electrical stimulation
	lack of Gnai2 leads to dilative cardiomyopathy and increased mortality in Adrb1 overexpressing mice