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

Home Page

FLASH GENE

Symbol

GABRA5

contributors: mct - updated : 19-12-2018

HGNC name	gamma-aminobutyric acid (GABA) A receptor, alpha 5
HGNC id	4079

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE79 epileptic encephalopathy, early infantile, 79
Location	15q12      Physical location : 27.111.865 - 27.194.356
Synonym symbol(s)	alpha5-GABAA R

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with GABRB3 and GABRG3
STRUCTURE	11.00 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D15S1364 - D15S113 - D15S891 -D5S1234 - D15S1365 - D15S540 - D15S740 - GABRG3 - D15S97 - GABRA5 - GABRG3 - D15S822 - D15S975 - D15S156 - D15S219 - APBA2 - (D5S217 - D15S661 ) - D15S737 - D15S12 - D15S931 - qter
Authors	Christian (98) Maddox (99) (PEDH/OCA2 partial)

RNA

TRANSCRIPTS	type	messenger

text	three alternative first exon (Glatt)

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       highly

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

mono polymer

pentamer

HOMOLOGY

Homologene

FAMILY

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm

basic FUNCTION	gamma-aminobutyric acid (GABA) A receptor, ionotropic, alpha 5, mediating neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
	modulates the induction of long-term potentiation at ventral but not dorsal CA1 hippocampal synapses
	likely play a role in the loss of GABAergic inhibition and contribute to long-lasting secondary allodynia and hyperalgesia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a pentameric receptor mediating inhibitory neurotransmission

INTERACTION

DNA

RNA

small molecule

protein	GABRA5-activity increases during inflammation and this increase is critical for inflammation-induced memory deficits
	GABRA5 concentrate extrasynaptically through RDX-mediated anchorage at the actin cytoskeleton
	intimate association of GABRA5 with GPHN, resulting in constant synaptic levels of GABRA5 throughout circuit formation that regulates neuronal development
	CDK5 cooperates with GABRA5 to regulate neuronal development

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE79

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     mapped within the commonly deleted PWS/AS region constitutional germinal mutation     loss of function in autism-like behaviors

Susceptibility

susceptibility to bipolar affective disorder (? MAFD10) to Panic disorder (PD)

Variant & Polymorphism SNP	rs2075716, and rs35399885, are associated to PD

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

ANIMAL & CELL MODELS

	Gabra5-null mice and alpha5 subunit((H105R)) knock-in mice exhibit signs of hippocampal dysfunction, but are capable of improved performance in several learning and memory tasks
	in alpha5(H105R) mice a behavioral-cognitive phenotype affecting basal locomotion and the memory for location of objects indicative of hippocampal dysfunction resulting from moderately decreased alpha5-subunit contents
	deletion of Gabra5 caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations