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FLASH GENE

Symbol

GABRA2

contributors: mct - updated : 22-09-2020

HGNC name	gamma-aminobutyric acid (GABA) A receptor, alpha 2
HGNC id	4076

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with genes encoding alpha 4, beta 1 and gamma 1 subunits of the GABA A receptor
STRUCTURE	145.59 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001286827 10 - 2538 NP_001273756 - 456 - 2018 29961870 NM_000807 10 - 2426 NP_000798 - 451 - 2018 29961870 NM_001114175 9 - 2784 NP_001107647 - 451 - 2018 29961870

EXPRESSION

Type

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 Nervous brain         Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Homo sapiens Connective adipose     highly 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

HOMOLOGY

Homologene

FAMILY

CATEGORY

receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	NPTN specifically co-localizes with GABRA1 and GABRA2 but not with GABRA3 subunits at GABAergic synapses

basic FUNCTION

major inhibitory neurotransmitter in the vertebrate brain, mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a pentameric receptor mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein

ovarian cycle-related Progesterone and neurosteroids regulate GABRA2 expression in the hippocampus via a non-PGR pathway, which may be relevant to menstrual-cycle related brain conditions

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE78

Susceptibility

susceptibility to alcohol dependence by modulating the level of neural excitation

Variant & Polymorphism other	genetic variations in GABRA2 might play a role in the risk of alcohol use disorders by moderating the subjective effects of alcohol

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed psychiatry     may therefore represent a novel target for the development of more effective antidepressants

ANIMAL & CELL MODELS

genetic inactivation of Gabra2 would generate a depressive-like phenotype in mice