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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

Corresponding disease	CSNB9 blindness night congenital, stationary 9
Location	12p13.31      Physical location : 6.949.374 - 6.956.556
Synonym name	GTP-binding regulatory protein beta-3 chain
	transducin beta chain 3
	guanine nucleotide-binding protein G(I)/G(S)/G(T) beta
	subunit 3
	hypertension associated protein
Synonym symbol(s)	GBB3

DNA

TYPE	functioning gene
STRUCTURE	6.54 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002075 10 - 1760 NP_002066 - 340 - 2003 12697327 NM_001297571 10 - 1757 NP_001284500 - 339 - 1998 9425898 also called GNB3s C825T variant with defect of exon 9 splicing, biologically active protein that enhances signal transduction variant 2 - splicing 460 isoform 2 32.2 291 retina, colon, umbilical cord, adipose tissue, B lymphoblast, fibroblast cells, brain 2003 12697327 also called GNB3v no association with C825T SNP a N-terminal coiled-coil domain,four WD domains and two potential serine phosphorylation sites

EXPRESSION

Type	restricted

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 Cardiovascular heart         Visual eye retina     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Visual bipolar cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal alpha-helical segment
	seven WD (Trp-Asp) repeats, forming a propeller structure, highly conserved repeating units (&
	8764;40 amino acid motifs) usually ending with Trp-Asp (WD).37 WD40 repeat motifs act as sites for protein-protein interaction, and WD40 proteins regulate cellular function, including transmembrane signaling
	pleckstrin homology (PH) domains
	two short sequences homolog to a PKC binding sequence of annexin 1

conjugated

PhosphoP

mono polymer

heteromer , trimer

HOMOLOGY

Homologene

FAMILY

WD repeat G protein beta family

CATEGORY

enzyme , regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	modulator or transducer in various transmembrane signaling systems
	forms distinct dimers with specific Ggamma subunits and preferentially activates the beta3 isoform of phospholipase C
	plays a critical role in several physiological processes, as a polymorphism in its gene is associated with a risk factor for several disorders
	is required for normal light ON Responses and synaptic maintenance
	main role of GNB3 in cones is to establish optimal levels of transducin heteromer in the outer segment, thereby indirectly contributing to robust response properties

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component	composed of 3 units, alpha, beta and gamma
	part of heterotrimeric G-protein, cone transducin, comprising GNAT2, GNB3 and GNGT2 subunits

INTERACTION

DNA

RNA

small molecule

protein	dimerizing with G gamma subunit
	KCNJ6 is capable of interacting with GNB1, GNB2, GNB3 and not GNB4 or GNB5
	GNB3 participates in the G-protein heterotrimer that couples GRM6 to TRPM1
	interactions between genetic variants of FTO and GNB3 influence clinical parameters to augment hypertension
	GNGT1, GNG2, GNB1, GNB2, GNB3, interacts with MTOR and promotes its activation

cell & other

REGULATION

inhibited by

TH

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