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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

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine pancreas       moderately Nervous brain       highly Reproductive male system prostate     moderately Respiratory lung       highly Urinary kidney       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a GTPase domain with three regions named switches 1, 2 and 3 and including the sites for guanine nucleotide binding and effector interaction
	an helical domain

HOMOLOGY

intraspecies

paralog to GNAQ

Homologene

FAMILY	G-alpha family
	G(q) subfamily

CATEGORY

signaling , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	mediating pertussis toxin-resistant stimulation of phospholipase C beta
	involved as modulators or transducers in various
	transmembrane signaling systems
	involved in signaling of gonadotropin-releasing hormone receptor, which negatively regulates cell growth
	acting as an activator of phospholipase C
	endothelial GNAQ/GNA11-mediated signaling as a critical mediator of fatal systemic anaphylaxis
	GNAQ and GNA11 contribute to the maintenance of cellular electrophysiology and Ca2+ handling in ventricular cardiomyocytes
	contribute to T lymphocyte migration by promoting turnover of integrin ITGAL through recycling
	GNA11 and GNA14 induce changes in cellular morphology and growth-factor independence via MAPK activation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	guanine nucleotide binding
	KISS1R regulates ERK1/2 activity and hypothalamic gene expression in a GNAQ/GNA11 and ARRB-dependent manner
	ADRBK1 selectively interacts with GNAQ/GNA11 family that are released during G protein-coupled receptor activation

cell & other

REGULATION

Phosphorylated by

PRKC and CAMK1 contributing to agonist-induced homologous desensitization of HTR2A signaling as well as heterologous desensitization

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