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FLASH GENE

Symbol

GNA11

contributors: mct - updated : 21-02-2015

HGNC name	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
HGNC id	4379

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     --low   in breast cancer tumoral somatic mutation       in uveal melanoma tumoral somatic mutation       in primary melanocytic tumours of the CNS, GNA11 and NRAS mutations represent a mechanism of MAPK pathway activation alternative to the common GNAQ mutations( : tumoral somatic mutation     gain of function in iris melanomas

Susceptibility

to uveal melanoma, and rapidly involuting congenital hemangioma [RICH] or non-involuting congenital hemangioma [NICH]

Variant & Polymorphism other	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 allergy     potential new target to prevent or treat anaphylactic reactions

ANIMAL & CELL MODELS