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

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

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		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.