Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

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

Corresponding disease	ECA2 epilepsy, childhood absence 2 EIEE74 epileptic encephalopathy, early infantile, 74 GEFSP3 generalized epilepsy with febrile seizures plus 3
Location	5q34      Physical location : 161.494.647 - 161.582.544
Synonym name	ionotropic
	GABA(A) receptor subunit gamma-2
Synonym symbol(s)	GAC2, GABAA-R

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	87.90 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence   long interspersed repetitive elements   other
text structure	eighty one SINE and nine LINE elements

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see GABRA1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_198904 10 - 3957 NP_944494 51 475 - - NM_000816 9 - 3933 NP_000807 50 467 - - NM_198903 11 - 4077 NP_944493 55 515 - -

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