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FLASH GENE

Symbol

GABRB2

contributors: mct - updated : 18-11-2016

HGNC name	gamma-aminobutyric acid (GABA) A receptor, beta 2
HGNC id	4082

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SMEI4 severe myoclonic epilepsy of infancy 4
Location	5q34      Physical location : 160.715.435 - 160.975.130

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	259.70 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	see GABRA1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000813 10 - 7295 NP_000804 - 474 - 2014 25241062 NM_021911 11 - 7409 NP_068711 - 512 - 2014 25241062

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)

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
	a large intracellular loop, and a gephyrin-binding motif in the large cytoplasmic loops

HOMOLOGY

interspecies

homolog to murine gabrb2

Homologene

FAMILY

ligand gated ion channel family

CATEGORY

enzyme , receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

major inhibitory neurotransmitter receptor in the brain

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a pentameric receptor mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

SMEI4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       contribute to neurological and developmental dysfunction

Susceptibility

to psychosis, the core symptom and an endophenotype of schizophrenia to epilepsy susceptibility to Developmental and epileptic encephalopathy (DEE)

Variant & Polymorphism other	heterozygous missense variant in exon 4 of GABRB2 (c.236T>C; p.M79T)associated with intellectual disability and epilepsy
	SNP in GABRB2 associated with psychosis, the core symptom and an endophenotype of schizophrenia
	involvement of beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility
	de novo missense variants, p.Thr287Pro, has been found to reduce cell-surface expression and peak current amplitudes of GABAA channels, and can cause a DEE

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS