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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

Location	9q21.2      Physical location : 80.335.199 - 80.646.192
Synonym symbol(s)	GBQ, RP11-494N1.1, G-ALPHA-q, GAQ, GQ

DNA

TYPE	functioning gene
STRUCTURE	311.03 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002072 7 - 2215 NP_002063 - 359 - 1999 10191087

EXPRESSION

Type	ubiquitous

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 Digestive intestine large intestine colon   predominantly Hearing/Equilibrium ear inner cochlea   highly Reproductive female system placenta     highly   male system testis     predominantly   male system prostate     predominantly Skin/Tegument skin       highly Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a polybasic region in its N terminus that contributes to plasma membrane localization, and required for signaling and influences membrane nanodomain distribution
	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

mono polymer

heteromer , trimer

HOMOLOGY

interspecies	homolog to rattus Gnaq (99,44 pc)
	homolog to murine Gnaq (99,72 pc)
	homolog to Drosophila Galpha49B (84,99 pc)

intraspecies

paralog to GNA11

Homologene

FAMILY

G alpha family, G(q) subfamily

CATEGORY

protooncogene , signaling , receptor membrane G

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nuclear envelope

basic FUNCTION	mediating pertussis toxin-resistant stimulation of phospholipase C beta
	involved as modulators or transducers in various transmembrane signaling systems
	operates downstream of several GPCRs that are important in melanocyte homeostasis and neoplasia, and involved in endothelin signalling, which is essential for melanocyte survival early during development
	endothelial GNAQ/GNA11-mediated signaling as a critical mediator of fatal systemic anaphylaxis
	GNAQ signal plays an inhibitory role in the PTH osteoanabolic action, suggesting that its suppression may lead to a novel treatment in combination with PTH against osteoporosis
	GNAQ and GNA11 contribute to the maintenance of cellular electrophysiology and Ca2+ handling in ventricular cardiomyocytes
	influence of GNAQ is not confined to the vesicles that express it, as its reduction alters intracellular trafficking of other vesicles involved in recycling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	constituent of cell cytoskeleton
	three units (alpha, beta and gamma). alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta

INTERACTION

DNA

RNA

small molecule

protein	binds SLC9A3R1
	RASA3 links GNAI1 proteins to inhibit GNAQ-induced RAS/ERK1/2 activation
	TBXA2R interacts with the GNAQ, thereby activating phospholipase C and increasing the intracellular calcium level
	KISS1R regulates ERK1/2 activity and hypothalamic gene expression in a GNAQ/GNA11 and ARRB-dependent manner
	TSNAX, localized in the cytosol and nucleus, competes with plasma-membrane bound GNAQ for PLCB1 binding thus stabilizing PLCB1 in other cellular compartments
	ADRBK1 selectively interacts with GNAQ/GNA11 family that are released during G protein-coupled receptor activation
	WDR36 associated with PLCB2 and increased the interaction between GNAQ and PLCB2, but prevented sequestration of activated GNAQ by GRK2
	a fraction of the cellular RARA pool is present in membrane lipid rafts, where it forms complexes with GNAQ in response to RA
	retinoic acid receptor RARA pool present in membrane lipid rafts forms complexes with GNAQ to activate MAPK14
	is a GTPase-activating protein for the GNAQ and GNAI1 subunits of heterotrimeric G-proteins that turns off signaling by G-protein coupled receptors
	having an impact on ITGAL expression at plasma membrane level and also on its internalization
	SNCG competes for GNAQ association, but not for activators that bind to the N-terminus

cell & other

interacting with components of the cell cytoskeleton

REGULATION

Other

histaminylation of Gln residues is a novel posttranslational modification implicated in GNAQ

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