GABBR2 - gamma-aminobutyric acid type B receptor subunit 2 Gene

Homo sapiens

Also known as HG20; DEE59; GPR51; EIEE59; GPRC3B; NDPLHS; GABABR2; HRIHFB2099

Gene ID: 9568 | Gene type: protein coding

About GABBR2

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:98,288,109-98,708,935 (from NCBI)

This gene has 12 transcripts (splice variants), 241 orthologues, 2 paralogues and is associated with 5 phenotypes. Restricted expression toward brain (RPKM 33.5).

Summary

The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]

GABBR2 Products(1)

mRNA	Protein	Name
NM_005458.8	NP_005449.5	gamma-aminobutyric acid type B receptor subunit 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to G protein-coupled GABA receptor activity	IDA IDA: Inferred from direct assay	9872316	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16724110	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	15304491	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	987231	GOA
involved in gamma-aminobutyric acid signaling pathway	IDA IDA: Inferred from direct assay	987231	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of G protein-coupled GABA receptor complex	IPI IPI: Inferred from physical interaction	24305054	GOA
part of G protein-coupled receptor heterodimeric complex	IPI IPI: Inferred from physical interaction	9872316	GOA
part of GABA receptor complex	IDA IDA: Inferred from direct assay	15304491	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	9872316	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GABBR2 Protein Structure

ANF_receptor

7tm_3

0
200
400
600
800
941 a.a.

Protein Preferred Names

Protein Names

gamma-aminobutyric acid type B receptor subunit 2

G-protein coupled receptor 51

GABBR2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	GABBR2	O75899	RIMS1	Homo sapiens	Q86UR5	Anti Bait CoIP	37207277
Intra	GABBR2	O75899	GABBR1	Homo sapiens	Q9UBS5-2	3D-EM-Single	32580208
Intra	GABBR2	O75899	NSF	Homo sapiens	P46459	Anti Bait CoIP	16724110
Intra	GABBR2	O75899	NSF	Homo sapiens	P46459	Y2H	16724110
Intra	GABBR2	O75899	GABBR1	Homo sapiens	Q9UBS5	GMS	32555460
Intra	GABBR2	O75899	GABBR1	Homo sapiens	Q9UBS5	3D-EM-Single	32555460

Cross: Cross-species interaction Intra: Intraspecies interaction

GABBR2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81988	GABA B Receptor 2 Antibody (YA1733)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills

NDPLHS

Developmental And Epileptic Encephalopathy 59

DEE59	Epileptic Encephalopathy, Early Infantile, 59
Eiee59	Developmental And Epileptic Encephalopathy, 59
Early Infantile Epileptic Encephalopathy 59	Encephalopathy, Developmental And Epileptic, Type 59

Tobacco Addiction

Nicotine Dependence	Tobacco Addiction, Susceptibility To
Nicotine Addiction	Tobacco Use Disorder
Smoking Habit	Nicotine Dependence, Protection Against
Nicotine Addiction, Protection From	Cigarette Habituation
Cigarette Habituation, Susceptibility To	Smoking Habit, Susceptibility To
Nicotine Dependence, Susceptibility To	Nicotine Addiction, Susceptibility To
Addiction, Tobacco, Susceptibility To	Compulsive Tobacco User Syndrome
Tobacco Dependence	Tobacco Dependence Syndrome
Cigarette Addiction	Cigarette Dependence
Smoking Addiction	Smokers Syndrome

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Schizophrenia 7

SCZD7	Schizophrenia Susceptibility Locus, Chromosome 13q-Related
Schizophrenia 7 With Or Without An Affective Disorder

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression	Early Infantile Epileptic Encephalopathy With Suppression Bursts
Eiee	Early Infantile Epileptic Encephalopathy With Suppression-Bursts
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05205	GABBR2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GABBR2	VGNC	VGNC:29188
Macaca mulatta	GABBR2	VGNC	VGNC:72925
Mus musculus	GABBR2	MGD	MGI:2386030
Felis catus	GABBR2	VGNC	VGNC:67432
Rattus norvegicus	GABBR2	RGD	RGD:619864
Canis familiaris	GABBR2	VGNC	VGNC:41049

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