GABRA4 - gamma-aminobutyric acid type A receptor subunit alpha4 Gene

Homo sapiens

Gene ID: 2557 | Gene type: protein coding

About GABRA4

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,918,900-46,993,581 (from NCBI)

This gene has 5 transcripts (splice variants), 203 orthologues and 45 paralogues. Biased expression in brain (RPKM 6.9) and heart (RPKM 1.7).

Summary

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 (GABRB1). Alternatively spliced transcript variants encoding different isoforms have been found in this gene.[provided by RefSeq, Feb 2011]

GABRA4 Products(3)

mRNA	Protein	Name
NM_000809.4	NP_000800.2	gamma-aminobutyric acid receptor subunit alpha-4 isoform 1 precursor
NM_001204266.2	NP_001191195.1	gamma-aminobutyric acid receptor subunit alpha-4 isoform 2
NM_001204267.2	NP_001191196.1	gamma-aminobutyric acid receptor subunit alpha-4 isoform 3

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	35355020	GOA
involved in gamma-aminobutyric acid signaling pathway	IDA IDA: Inferred from direct assay	35355020	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of GABA-A receptor complex	IPI IPI: Inferred from physical interaction	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

GABRA4 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
500
554 a.a.

Protein Preferred Names

Protein Names

gamma-aminobutyric acid receptor subunit alpha-4

GABA(A) receptor, alpha 4

Related Diseases

Diseases

Alias

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Status Epilepticus

Grand Mal Status Epilepticus	Grand Mal Status
Gcse	Generalized Convulsive Status Epilepticus
Se	Epilepsy With Status Epilepticus

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

Myoclonic Epilepsy, Juvenile 4

EJM4	Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Myoclonic Epilepsy, Juvenile, 4	Juvenile Myoclonic Epilepsy 4

Intellectual Developmental Disorder, Autosomal Dominant 41

MRD41	Autosomal Dominant Non-Syndromic Intellectual Disability 41
Mental Retardation, Autosomal Dominant 41	Autosomal Dominant Intellectual Developmental Disorder 41
Autosomal Dominant Mental Retardation 41	Mental Retardation, Autosomal Dominant, Type 41

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

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 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

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

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-RS05212	GABRA4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GABRA4	VGNC	VGNC:72849
Felis catus	GABRA4	VGNC	VGNC:62420
Mus musculus	GABRA4	MGD	MGI:95616
Bos taurus	GABRA4	VGNC	VGNC:29193
Rattus norvegicus	GABRA4	RGD	RGD:621670
Canis familiaris	GABRA4	VGNC	VGNC:41056

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