1. Gene
  2. GABRG2 - gamma-aminobutyric acid type A receptor subunit gamma2 Gene

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

Homo sapiens

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

Gene ID: 2566 | Gene type: protein coding

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_LBD: Neurotransmitter-gated ion-channel ligand binding domain (69 - 272)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (279 - 399)

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  • 467 a.a.
Protein Preferred Names Protein Names

gamma-aminobutyric acid receptor subunit gamma-2

GABA(A) receptor subunit gamma-2

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

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