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FLASH GENE

Symbol

GABRB3

contributors: mct - updated : 18-11-2016

HGNC name	gamma-aminobutyric acid (GABA) A receptor, beta 3
HGNC id	4083

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AS Angelman syndrome AUTS4 autism spectrum disorder, 4 DUP15QP chromosome 15 interstitial duplication involving the Prader-Willi/Angelman critical region ECA5 epilepsy, childhood absence, 5 EIEE43 epileptic encephalopathy, early infantile, 43
Location	15q12      Physical location : 26.788.694 - 27.018.935
Synonym symbol(s)	ECA5

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with GABRA5 and GABRG3
STRUCTURE	230.24 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D15S817 - D15S128 - D15S122 - GABRB3 - D15S97 - GABRA5 - D15S822 - D15S975 - D15S156 - D15S219 - D15S217 - D15S1048 - D15S165 - qter
Authors	Bass (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000814 9 - 5783 NP_000805 - 473 - 1997 9126483 NM_021912 9 - 5733 NP_068712 - 473 - 1997 9126483 NM_001278631 10 - 5889 NP_001265560 - 388 - 1997 9126483 NM_001191320 7 - 5581 NP_001178249 - 388 - 1997 9126483 NM_001191321 7 - 5641 NP_001178250 - 402 - 1997 9126483

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 Endocrine neuroendocrine pituitary     highly Nervous brain hindbrain cerebellum     Homo sapiens Respiratory lung       highly   respiratory tract larynx     highly Visual eye retina fovea   highly   eye retina macula   highly

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, and N-terminus of GABRB3 could be important for GABRB3 regulation in development, and its alteration could produce childhood absence epilepsy
	four transmembrane (4TM) segments
	one of which forming the wall of the channel and a large intracellular loop, and a gephyrin-binding motif in the large cytoplasmic loops

HOMOLOGY

Homologene

FAMILY

ligand gated ion channel family

CATEGORY

receptor , transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction

basic FUNCTION	mediating neuronal inhibition by binding to theGABA/benzodiazepine receptor and opening an integral chloride channel
	potential role of GABRB3 variation in the atypical sensory sensitivity in autism spectrum
	might be associated with heroin dependence, and increased expression of GABRB3 might contribute to the pathogenesis of heroin dependence

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

component of a pentameric receptor mediating inhibitory neurotransmission putatively

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

age-downregulated in the frontal cortex

ASSOCIATED DISORDERS

corresponding disease(s)

AUTS4 , AS , DUP15QP , ECA5 , EIEE43

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     included in PWS/AS typically deleted region constitutional     --low   reduced expression could be one potential cause for the development of childhood absence epilepsy

Susceptibility

to childhood absence epilepsy to autism to Asperger syndrome (APGS) to epileptic encephalopathies (EEs)

Variant & Polymorphism SNP , other	mutation leading to gain in glycosylation and to absence seizures
	SNPs (rs7180158, rs7165604, rs12593579) were significantly associated with APGS

Candidate gene	the three GABA-A receptor subunit genes GABRB3, GABRB5, GABGRG3 are attractive candidate genes for idiopathic autism
Marker
Therapy target

ANIMAL & CELL MODELS

	Gabrb3 null mice exhibit behaviours consistent with autism . in mice, heterozygous Gabrb3 deletion is associated with increased tactile sensitivity
	dysregulation of Fmrp-Grm5 signaling pathway, accompanied with a downregulation of Gabrb3 expression, may contribute to the 'autistic-like' features observed in En2 mice