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

Homo sapiens

Also known as ECA5; DEE43; EIEE43

Gene ID: 2562 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Related Agents

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 Sets	/	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