GABRB3 - gamma-aminobutyric acid type A receptor subunit beta3 Gene

Also Known as ECA5; DEE43; EIEE43

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2562

About GABRB3

Cytogenetic location: 15q12 Genomic coordinates (GRCh38): 15:26,543,552-26,773,763 (from NCBI)

This gene has 26 transcripts (splice variants), 213 orthologues, 45 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 22.9), gall bladder (RPKM 6.3) and 7 other tissues.

Summary

This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one the subunits of a multi-subunit Chloride Channel that serves as the receptor for gamma-aminobutyric acid, a major inhibitory neurotransmitter of the mammalian nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two Other genes encoding related subunits of the family. This gene may be associated with the pathogenesis of several disorders including Angelman syndrome, Prader-Willi syndrome, nonsyndromic orofacial clefts, epilepsy and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]

GABRB3 Products (5)

mRNA	Protein	Name
NM_000814.6	NP_000805.1	gamma-aminobutyric acid receptor subunit beta-3 isoform 1 precursor
NM_001191320.2	NP_001178249.1	gamma-aminobutyric acid receptor subunit beta-3 isoform 3
NM_001191321.3	NP_001178250.1	gamma-aminobutyric acid receptor subunit beta-3 isoform 4
NM_001278631.2	NP_001265560.1	gamma-aminobutyric acid receptor subunit beta-3 isoform 3
NM_021912.5	NP_068712.1	gamma-aminobutyric acid receptor subunit beta-3 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GABA-A receptor activity	IDA IDA: Inferred from direct assay	14993607	GOA
enables GABA-A receptor activity	IMP IMP: Inferred from mutant phenotype	22303015	GOA
enables GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	9039914	GOA
enables GABA-gated chloride ion channel activity	IMP IMP: Inferred from mutant phenotype	22303015	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	16537435	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to histamine	IDA IDA: Inferred from direct assay	18281286	GOA
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	9039914	GOA
involved in chloride transmembrane transport	IMP IMP: Inferred from mutant phenotype	22303015	GOA
involved in gamma-aminobutyric acid signaling pathway	IDA IDA: Inferred from direct assay	30602789	GOA
involved in gamma-aminobutyric acid signaling pathway	IMP IMP: Inferred from mutant phenotype	26950270	GOA
involved in inhibitory synapse assembly	IDA IDA: Inferred from direct assay	25489750	GOA
involved in synaptic transmission, GABAergic	IDA IDA: Inferred from direct assay	14993607	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GABA-A receptor complex	IDA IDA: Inferred from direct assay	9039914	GOA
part of GABA-A receptor complex	IMP IMP: Inferred from mutant phenotype	22303015	GOA
part of GABA-A receptor complex	IPI IPI: Inferred from physical interaction	30602789	GOA
is active in dendritic spine	IDA IDA: Inferred from direct assay	25025157	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	26950270	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	22303015	GOA
is active in postsynaptic membrane	IDA IDA: Inferred from direct assay	35355020	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

GABRB3 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
473 a.a.

Protein Preferred Names	Protein Names
gamma-aminobutyric acid receptor subunit beta-3	GABA-alpha receptor beta-2 subunit

GABRB3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GABRB3	P28472	GABRD	Homo sapiens	O14764	3D-EM	35355020
Intra	GABRB3	P28472	GABRA5	Homo sapiens	P31644	3D-EM	30140029
Intra	GABRB3	P28472	GABRG2	Homo sapiens	P18507	3D-EM	35355020
Intra	GABRB3	P28472	GABRB3	Homo sapiens	P28472	X-Ray Diffraction	24909990
Intra	GABRB3	P28472	GABRB3	Homo sapiens	P28472	Crosslink	16537435
Intra	GABRB3	P28472	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	24722188

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Epilepsy, Childhood Absence 5	Epilepsy, Childhood Absence, Susceptibility To, 5 ECA5 Epilepsy, Childhood Absence, Type 5
Developmental And Epileptic Encephalopathy 43	DEE43 Epileptic Encephalopathy, Early Infantile, 43 Eiee43 Developmental And Epileptic Encephalopathy, 43 Early Infantile Epileptic Encephalopathy 43
Epilepsy, Childhood Absence 1	Epilepsy, Childhood Absence, Susceptibility To, 1 Epilepsy, Childhood Absence, 1 ECA1
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
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
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Asperger Syndrome	Asperger Disorder Asperger Syndrome, Susceptibility To
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
Childhood Electroclinical Syndrome
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
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
Juvenile Absence Epilepsy	Epilepsy Juvenile Absence Jae Childhood Absence Epilepsy Absence Epilepsy
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic
Adolescence-Adult Electroclinical 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
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Early Onset Absence Epilepsy
Childhood Disintegrative Disease	Childhood Disintegrative Disorder Disintegrative Psychosis Heller'S Syndrome Symbiotic Psychosis Dementia Infantilis Heller Syndrome Shared Paranoid Disorder
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
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]
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
Neonatal Period Electroclinical Syndrome
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Infancy Electroclinical Syndrome
Atypical Autism	Pdd
Echolalia
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
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
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
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
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
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
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
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Orofacial Cleft	Cleft, Orofacial
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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-RS05217	GABRB3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GABRB3	VGNC	VGNC:72853
Felis catus	GABRB3	VGNC	VGNC:62425
Rattus norvegicus	GABRB3	RGD	RGD:2651
Canis familiaris	GABRB3	VGNC	VGNC:41060
Bos taurus	GABRB3	VGNC	VGNC:29197
Mus musculus	GABRB3	MGD	MGI:95621
Others	GABRB3	NCBI