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FLASH GENE

Symbol

GABBR2

contributors: mct - updated : 27-09-2018

HGNC name	gamma-aminobutyric acid (GABA) B receptor, 2
HGNC id	4507

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE59 epileptic encephalopathy, early infantile 59 NDPLHS neurodevelopmental disorder with poor language and loss of hand skills
Location	9q22.33      Physical location : 101.050.365 - 101.471.479
Synonym name	gamma-aminobutyric acid type B (GABA(B)) receptor subunit 2
	G protein-coupled receptor 51
	GABA-B receptor 2
Synonym symbol(s)	GABABR2, HG20, GPRC3B, GABAB2, GPR51, FLJ36928, Gb2, GABA-B-R2, GBR2 HRIHFB2099

DNA

TYPE	functioning gene
STRUCTURE	421.12 kb     19 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see HSN1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005458 19 - 5802 NP_005449 105 941 - 2001 11707323

EXPRESSION

Type

constitutive of

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 hindbrain cerebellum

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a large extracellular region
	a long C terminal tail

HOMOLOGY

intraspecies

homolog to GABA B receptor

Homologene

FAMILY	G-protein coupled receptor 3 family
	GABA-B receptor subfamily

CATEGORY

receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	inhibiting neuronal activity through G-protein coupled second-messenger systems, which regulate the release of neurotransmitters and the activity of ion channels and adenylyl cyclase
	GABBR1, GABBR2 play an important role in modulating synapses and maintaining the balance of excitation-inhibition in the brain
	GABBR1, GABBR2 play important functions in regulating synaptic plasticity
	playing an important role in the etiology of nicotine addiction
	GABBR1 is responsible for ligand-binding and GABBR2 is responsible for G protein coupling
	GABBR1, GABBR2 are neurotransmitter receptors that modulate synaptic transmission by mediating the slow and prolonged responses to GABA
	GABBR1, GABBR2 are expressed in human aortic smooth muscle cells and regulate the intracellular Ca(2+) concentration

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterodimer with subunits of GABA(B1) and GABA(B2) in the human colon

INTERACTION

DNA

RNA

small molecule

protein	coupling to adenyl cyclase
	heteromeric association between CHRM2 and GABBR2 provides a possible mechanism for altering muscarinic signaling in the brain and represents a previously unrecognized role for GABBR2
	physical and functional interaction between CACNA1D and GABBR2, suggesting the potential pivotal roles of CACNA1D in the CNS
	post-transcriptional regulation of GABBR1, GABBR2 and KCNJ3 channels by RTN4R

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NDPLHS , EIEE59

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   significant reductions in GABBR1, GABBR2 density were demonstrated in the anterior and posterior cingulate cortex, suggesting that alterations in this key inhibitory receptor subtype may contribute to the functional deficits in individuals with autism

Susceptibility

to nicotine dependence to severe epileptic encephalopathies to Developmental and epileptic encephalopathy (DEE)

Variant & Polymorphism other	causative role of GABBR2 mutations in severe epileptic encephalopathies
	de novo missense mutations in GABBR2 have the potential to cause DEE

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS