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FLASH GENE

Symbol

GABRG2

contributors: mct - updated : 19-12-2017

HGNC name	gamma-aminobutyric acid (GABA) A receptor, gamma 2
HGNC id	4087

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 Endocrine neuroendocrine pituitary     highly Nervous brain       highly   nerve       highly Visual eye       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	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
	eighty one SINE
	nine LINE elements

HOMOLOGY

Homologene

FAMILY

ligand-gated ionic channel family

CATEGORY

signaling neurotransmitter , receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

putatively involved in the physiological dependance on alcohol and in the maintenance of psychomotor disease states

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	complexing with DRD5 and promoting mutually inhibitory functional interactions between these receptor systems
	component of a pentameric receptor mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

GEFSP3 , EIEE74 , ECA2

Susceptibility

Variant & Polymorphism SNP	seven SNP in the entire exon region

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS