GABRA2 - gamma-aminobutyric acid type A receptor subunit alpha2 Gene

Also Known as DEE78; EIEE78

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2555

About GABRA2

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:46,243,548-46,390,300 (from NCBI)

This gene has 16 transcripts (splice variants), 256 orthologues, 45 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 13.5), kidney (RPKM 1.1) and 1 other tissue.

Summary

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

GABRA2 Products (16)

mRNA	Protein	Name
NM_000807.4	NP_000798.2	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001114175.3	NP_001107647.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001286827.3	NP_001273756.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform b
NM_001330690.2	NP_001317619.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor
NM_001377144.1	NP_001364073.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor
NM_001377145.1	NP_001364074.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform c precursor
NM_001377146.1	NP_001364075.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377147.1	NP_001364076.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377148.1	NP_001364077.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377149.1	NP_001364078.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377150.1	NP_001364079.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377151.1	NP_001364080.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform a precursor
NM_001377152.1	NP_001364081.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform d
NM_001377153.1	NP_001364082.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform d
NM_001377154.1	NP_001364083.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform d
NM_001377155.1	NP_001364084.1	gamma-aminobutyric acid receptor subunit alpha-2 isoform e precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GABA-gated chloride ion channel activity	IDA IDA: Inferred from direct assay	9039914	GOA
enables benzodiazepine receptor activity	IMP IMP: Inferred from mutant phenotype	8391122	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA IDA: Inferred from direct assay	22711532	GOA
enables ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	22711532	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	35384245	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA IDA: Inferred from direct assay	22711532	GOA
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP IMP: Inferred from mutant phenotype	22711532	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in chloride transmembrane transport	IDA IDA: Inferred from direct assay	9039914	GOA
involved in gamma-aminobutyric acid signaling pathway	IMP IMP: Inferred from mutant phenotype	8391122	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of GABA-A receptor complex	IDA IDA: Inferred from direct assay	9039914	GOA
located in synaptic vesicle membrane	IDA IDA: Inferred from direct assay	8391122	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

GABRA2 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
451 a.a.

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

Related Diseases

Diseases	Alias
Developmental And Epileptic Encephalopathy 78	DEE78 Epileptic Encephalopathy, Early Infantile, 78 Eiee78 Developmental And Epileptic Encephalopathy, 78 Early Infantile Epileptic Encephalopathy 78
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
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Cannabis Dependence	Marijuana Abuse Cannabinoid Addiction Cannabinoid Dependence Cannabis Addiction
Substance Abuse	Substance-Related Disorders Substance Abuse Problem
Conduct Disorder
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Hallucinogen Dependence	Hallucinogen Addiction
Substance Dependence
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
Pedophilia	Paedophilia
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Antisocial Personality Disorder	Dissocial Personality Disorder Asocial Personality Psychopath.Personality Psychopathic Personality Psychopathic Personality Disorder Sociopathic Personality
Alcohol Use Disorder	Alcohol Abuse Alcoholism Ethanol Abuse Alcohol Addiction Alcohol Dependence Alcoholic Intoxication, Chronic Alcohol-Related Disorders
Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis	ECTD14 Ectodermal Dysplasia 14 Ectn14
Cocaine Dependence
Drug Dependence
Oppositional Defiant Disorder	Disorder Oppositional Defiance Behavioural Disorder Oppositional Defiance Disruptive Mood Dysregulation Disorder
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
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2
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
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
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
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
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
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS05210	GABRA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20551	Gabra2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27060	Gabra2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GABRA2	MGD	MGI:95614
Bos taurus	GABRA2	VGNC	VGNC:107246
Felis catus	GABRA2	VGNC	VGNC:62418
Rattus norvegicus	GABRA2	RGD	RGD:61856
Macaca mulatta	GABRA2	VGNC	VGNC:72847
Canis familiaris	GABRA2	VGNC	VGNC:41054
Others	GABRA2	NCBI