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

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9568

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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
Others	GABBR2	NCBI