GABRB2 - gamma-aminobutyric acid type A receptor subunit beta2 Gene

Also Known as DEE92; ICEE2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2561

About GABRB2

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:161,288,436-161,548,404 (from NCBI)

This gene has 18 transcripts (splice variants), 277 orthologues, 45 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 22.7), spleen (RPKM 1.3) and 1 other tissue.

Summary

The gamma-aminobutyric acid (GABA) A receptor is a multisubunit Chloride Channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2 transcript variants, differing by a 114 bp insertion. [provided by RefSeq, Jul 2008]

GABRB2 Products (3)

mRNA	Protein	Name
NM_000813.3	NP_000804.1	gamma-aminobutyric acid receptor subunit beta-2 isoform 2 precursor
NM_001371727.1	NP_001358656.1	gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor
NM_021911.3	NP_068711.1	gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to GABA receptor activity	IMP IMP: Inferred from mutant phenotype	27789573	GOA
contributes to GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	23909897	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	29950725	GOA
involved in gamma-aminobutyric acid signaling pathway	IDA IDA: Inferred from direct assay	29950725	GOA
involved in gamma-aminobutyric acid signaling pathway	IMP IMP: Inferred from mutant phenotype	27789573	GOA
involved in inhibitory synapse assembly	IDA IDA: Inferred from direct assay	23909897	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GABA-A receptor complex	IPI IPI: Inferred from physical interaction	29950725	GOA
is active in dendritic spine	IDA IDA: Inferred from direct assay	25025157	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	27789573	GOA
is active in postsynaptic membrane	IDA IDA: Inferred from direct assay	9464994	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

GABRB2 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
512 a.a.

Protein Preferred Names	Protein Names
gamma-aminobutyric acid receptor subunit beta-2	GABA(A) receptor subunit beta-2

Recombinant GABRB2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71447	GABRB2 Protein, Human (His)	P47870-1 (S26-Y244)	≥ 90%, as determined by reducing SDS-PAGE.

GABRB2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82013	GABA A Receptor beta 2 Antibody (YA1758)	WB	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 92	Epileptic Encephalopathy, Infantile Or Early Childhood, 2 IECEE2 DEE92 Encephalopathy, Epileptic, Infantile Or Early Childhood, Type 2
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Developmental And Epileptic Encephalopathy 74	DEE74 Epileptic Encephalopathy, Early Infantile, 74 Eiee74 Developmental And Epileptic Encephalopathy, 74 Early Infantile Epileptic Encephalopathy 74 Encephalopathy, Epileptic, Early Infantile, Type 74
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Joubert Syndrome 31	JBTS31
Brugada Syndrome 9	BRGDA9 Brugada Syndrome, Type 9
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Adolescence-Adult Electroclinical Syndrome
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
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
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05216	GABRB2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21133	Gabrb2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27651	Gabrb2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GABRB2	MGD	MGI:95620
Felis catus	GABRB2	VGNC	VGNC:62424
Bos taurus	GABRB2	VGNC	VGNC:55210
Macaca mulatta	GABRB2	VGNC	VGNC:72852
Rattus norvegicus	GABRB2	RGD	RGD:2650
Canis familiaris	GABRB2	VGNC	VGNC:41059
Others	GABRB2	NCBI