GABRG2 - gamma-aminobutyric acid type A receptor subunit gamma2 Gene

Also Known as CAE2; ECA2; FEB8; DEE74; EIEE74; GEFSP3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2566

About GABRG2

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:162,067,465-162,155,539 (from NCBI)

This gene has 29 transcripts (splice variants), 205 orthologues, 45 paralogues and is associated with 8 phenotypes. Restricted expression toward brain (RPKM 32.3).

Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

GABRG2 Products (15)

mRNA	Protein	Name
NM_000816.3	NP_000807.2	gamma-aminobutyric acid receptor subunit gamma-2 isoform 2 precursor
NM_001375339.1	NP_001362268.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 4
NM_001375340.1	NP_001362269.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 5 precursor
NM_001375341.1	NP_001362270.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 6 precursor
NM_001375342.1	NP_001362271.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 7 precursor
NM_001375343.1	NP_001362272.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 8 precursor
NM_001375344.1	NP_001362273.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 9 precursor
NM_001375345.1	NP_001362274.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 10 precursor
NM_001375346.1	NP_001362275.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 11 precursor
NM_001375347.1	NP_001362276.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 12
NM_001375348.1	NP_001362277.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 13
NM_001375349.1	NP_001362278.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 14
NM_001375350.1	NP_001362279.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 15
NM_198903.2	NP_944493.2	gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor
NM_198904.4	NP_944494.1	gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor

GABRG2 Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
467 a.a.

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

GABRG2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GABRG2	P18507	NOVA1	Homo sapiens	P51513	Anti Bait CoIP	27733149

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Febrile Seizures, Familial, 8	FEB8 Epilepsy, Childhood Absence 2 Generalized Epilepsy With Febrile Seizures Plus 3 Generalized Epilepsy With Febrile Seizures Plus, Type 3 Familial Febrile Seizures 8 Familial Febrile Convulsions 8 Epilepsy, Childhood Absence, Susceptibility To, 2 ECA2 GEFS+3 Gefs+ Type 3 Gefsp3 Epilepsy, Generalized, With Febrile Seizures Plus, Type 3
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
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
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
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
Non-Specific Early-Onset Epileptic Encephalopathy	Undetermined Early-Onset Epileptic Encephalopathy Non-Specific Eoee Undetermined Eoee
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Febrile Seizures	Febrile Seizure Febrile Convulsions Seizures Febrile
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
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
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
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
Childhood Electroclinical Syndrome
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Verbal Auditory Agnosia
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
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]
Early Onset Absence Epilepsy
Cataract 1, Multiple Types	Cataract 1 Multiple Types CTRCT1 Cataract 1, Multiple Types, With Or Without Microcornea Czp1 Cae1 Pulverulent Zonular Cataract Cataract, Duffy-Linked Cataract, Zonular Pulverulent, 1 Duffy Linked Cataract Zonular Pulverulent Cataract 1 Cataract Duffy-Linked Cataract-Microcornea Syndrome Cataract Zonular Pulverulent 1 Ccmc Cznp Czp Zonular Nuclear Pulverulent Cataract Cataract, Zonular Pulverulent-1 Zonular Pulverulent Cataract Cataract, Zonular Pulverulent 1 Cataract Microcornea Syndrome
Febrile Seizures, Familial, 4	FEB4 Convulsions, Familial Febrile, 4 Familial Febrile Seizures 4 Familial Febrile Convulsions 4
Adolescence-Adult Electroclinical Syndrome
Cataract 14, Multiple Types	Cataract 14 Multiple Types CTRCT14 Czp3 Cae3 Cataract, Zonular Pulverulent 3 Zonular Pulverulent Cataract 3 Cataract, Zonular Pulverulent-3 Cataract, Type 14, Multiple Types
Generalized Epilepsy With Febrile Seizures Plus, Type 2	Febrile Seizures, Familial, 3a GEFSP2 GEFS+2 Generalized Epilepsy With Febrile Seizures Plus 2 Gefs+, Type 2 Generalised Epilepsy With Febrile Seizures Plus 2 Generalised Epilepsy With Febrile Seizures Plus Type 2 Generalized Epilepsy With Febrile Seizures Plus Type 2 FEB3A Familial Febrile Convulsions 3 Gefs+ Type 2 Epilepsy, Generalized, With Febrile Seizures Plus, Type 2 Febrile Convulsions, Familial, 3a
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
Febrile Seizures, Familial, 11	FEB11 Familial Febrile Seizures 11 Familial Febrile Convulsions 11 Convulsions, Familial Febrile, 11 Familial Mesial Temporal Lobe Epilepsy With Febrile Seizures
Juvenile Absence Epilepsy	Epilepsy Juvenile Absence Jae Childhood Absence Epilepsy Absence Epilepsy
Generalized Epilepsy With Febrile Seizures Plus, Type 4	GEFSP4 Gefs+4 Generalized Epilepsy With Febrile Seizures Plus 4 Gefs+, Type 4 Generalised Epilepsy With Febrile Seizures Plus 4 Generalised Epilepsy With Febrile Seizures Plus Type 4 Generalized Epilepsy With Febrile Seizures Plus Type 4
Generalized Epilepsy With Febrile Seizures Plus, Type 6	GEFSP6 Gefs+6 Generalized Epilepsy With Febrile Seizures Plus 6 Gefs+, Type 6 Generalised Epilepsy With Febrile Seizures Plus 6 Generalised Epilepsy With Febrile Seizures Plus Type 6 Generalized Epilepsy With Febrile Seizures Plus Type 6
Febrile Seizures, Familial, 7	FEB7 Febrile Convulsions, Familial, 7 Familial Febrile Seizures 7 Familial Febrile Convulsions 7
Febrile Seizures, Familial, 9	FEB9 Febrile Convulsions, Familial, 9 Familial Febrile Seizures 9 Familial Febrile Convulsions 9
Generalized Epilepsy With Febrile Seizures Plus, Type 1	GEFSP1 GEFS+1 Generalized Epilepsy With Febrile Seizures Plus 1 Gefs+, Type 1 Generalised Epilepsy With Febrile Seizures Plus 1 Generalised Epilepsy With Febrile Seizures Plus Type 1 Generalized Epilepsy With Febrile Seizures Plus Type 1 Gefs+ Type 1 Epilepsy, Generalized, With Febrile Seizures Plus, Type 1
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Landau-Kleffner Syndrome	Acquired Epileptic Aphasia Lks Acquired Aphasia With Convulsive Disorder Acquired Epileptiform Aphasia Landau Kleffner Syndrome Childhood Epileptic Aphasia
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Neonatal Period Electroclinical Syndrome
Developmental And Epileptic Encephalopathy 43	DEE43 Epileptic Encephalopathy, Early Infantile, 43 Eiee43 Developmental And Epileptic Encephalopathy, 43 Early Infantile Epileptic Encephalopathy 43
Angelman Syndrome	AS Happy Puppet Syndrome Happy Puppet Syndrome, Formerly Puppetlike Syndrome
Developmental And Epileptic Encephalopathy 54	DEE54 Epileptic Encephalopathy, Early Infantile, 54 Eiee54 Developmental And Epileptic Encephalopathy, 54 Early Infantile Epileptic Encephalopathy 54 Encephalopathy, Epileptic, Early Infantile, Type 54
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Febrile Seizures, Familial, 3b GEFSP7 GEFS+7 Generalized Epilepsy With Febrile Seizures Plus 7 Gefs+, Type 7 Generalised Epilepsy With Febrile Seizures Plus 7 Generalised Epilepsy With Febrile Seizures Plus Type 7 Generalized Epilepsy With Febrile Seizures Plus Type 7 FEB3B Familial Febrile Convulsions 3 Gefs+ Type 7 Epilepsy, Generalized, With Febrile Seizures Plus, Type 7 Generalized Epilepsy With Febrile Seizures Plus, 7
Photosensitive Epilepsy	Pse Photogenic Epilepsy Photoparoxysmal Response Reflex Epilepsy, Photosensitive Photoparoxysmal Response 1
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Alcoholic Liver Cirrhosis	Alcoholic Cirrhosis Portal Cirrhosis Alcoholic Cirrhosis Of Liver Liver Cirrhosis, Alcoholic Laennec'S Cirrhosis Laennec'S Cirrhosis, Alcoholic Alcohol Cirrhosis Alcoholic Laennec Cirrhosis Alcoholic Cirrhosis Nos Etoh Cirrhosis Alcohol Hepatic Cirrhosis Alcohol Liver Cirrhosis Laennec Cirrhosis
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
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
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
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

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-RS05221	GABRG2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	GABRG2	MGD	MGI:95623
Bos taurus	GABRG2	VGNC	VGNC:29200
Felis catus	GABRG2	VGNC	VGNC:102209
Macaca mulatta	GABRG2	VGNC	VGNC:72857
Canis familiaris	GABRG2	VGNC	VGNC:41064
Rattus norvegicus	GABRG2	RGD	RGD:61966
Others	GABRG2	NCBI