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FLASH GENE

Symbol

GABRG3

contributors: mct - updated : 05-01-2017

HGNC name	gamma-aminobutyric acid (GABA) A receptor, gamma 3
HGNC id	4088

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 Digestive mouth tongue       Hearing/Equilibrium ear inner cochlea     Homo sapiens Nervous brain       moderately Reproductive male system testis       Respiratory respiratory tract larynx

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a ligand binding site in the N terminal region
	four transmembrane segments (4TM), one of which forming the wall of the channel and a large intracellular loop
	a benzodiazepine binding site

conjugated

GlycoP

mono polymer

heteromer , pentamer

HOMOLOGY

interspecies	ortholog to murine Gabrg3
	homolog to rattus Gabrg3
	homolog to Drosophila Grd
	homolog to C.elegans T21C12.1a

Homologene

FAMILY

ligand-gated ionic channel family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction

basic FUNCTION	involved in synaptic transmission
	may be involved in the risk for alcohol dependence
	expression levels of mRNA of SLC17A6 and GABRG3, involved in excitation and inhibition respectively, and increased post noise-exposure, plays a possible role in the cochlear nucleus (CN) spontaneous hyperactivity associated with tinnitus and hyperacusis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	chloride transport

PATHWAY

metabolism

signaling

neurotransmission

gamma-aminobutyric acid signaling pathway

a component

component of a pentameric receptor (alpha, beta, gamma, delta and rho) mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein	binding to benzodiazepine
	NDEL1 enzyme activity was found to be associated with CAMK1D, MAGI2, CCDC25, and GABGR3

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     mapped within the commonly deleted PWS/AS region

Susceptibility

to autistic disorder to alcohol dependence

Variant & Polymorphism SNP	exon 5 and intron 5 contributing torisk of autistic disorder
	association between alcohol dependence and GABRG3

Candidate gene	GABA A-receptor subunit genes are cadidate genes for autism (see GABRB3)
Marker
Therapy target

ANIMAL & CELL MODELS