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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2557

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 References 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 References 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_LBD: Neurotransmitter-gated ion-channel ligand binding domain (49 - 256)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (263 - 538)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05212 GABRA4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20552 Gabra4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27061 Gabra4 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others GABRA4 NCBI