1. Gene
  2. GABRD - gamma-aminobutyric acid type A receptor subunit delta Gene

GABRD - gamma-aminobutyric acid type A receptor subunit delta Gene

Homo sapiens

Also known as EJM7; EIG10; GEFSP5

Gene ID: 2563 | Gene type: protein coding

About GABRD

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:2,019,345-2,030,758 (from NCBI)

This gene has 19 transcripts (splice variants), 194 orthologues, 45 paralogues and is associated with 4 phenotypes. Biased expression in brain (RPKM 6.5), testis (RPKM 1.0) and 1 other tissue.

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. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GABRD Products(1)

mRNA Protein Name
NM_000815.5 NP_000806.2 gamma-aminobutyric acid receptor subunit delta precursor

GABRD Protein Structure

Neur_chan_LBD

Neur_chan_LBD: Neurotransmitter-gated ion-channel ligand binding domain (45 - 246)

Neur_chan_memb

Neur_chan_memb: Neurotransmitter-gated ion-channel transmembrane region (255 - 394)

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  • 452 a.a.
Protein Preferred Names Protein Names

gamma-aminobutyric acid receptor subunit delta

GABA(A) receptor subunit delta

Related Diseases

Diseases Alias
Epilepsy, Idiopathic Generalized 10

EIG10

Epilepsy, Idiopathic Generalized, Susceptibility To, 10

Generalized Epilepsy With Febrile Seizures Plus, Type 5

Epilepsy, Juvenile Myoclonic, Susceptibility To

Epilepsy, Idiopathic Generalized, 10

Idiopathic Generalized Epilepsy 10

Epilepsy, Juvenile Myoclonic 7

Generalized Epilepsy With Febrile Seizures Plus Type 5

Generalized Epilepsy With Febrile Seizures Plus, Type 5, Susceptibility To

Epilepsy, Juvenile Myoclonic

Susceptibility To Idiopathic Generalized Epilepsy 10

Generalized Epilepsy With Febrile Seizures Plus 5

GEFS+5

Gefs+ Type 5

Gefsp5

Juvenile Myoclonic Epilepsy 7

EJM7

Susceptibility To Juvenile Myoclonic Epilepsy 7

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 10

Myoclonic Epilepsy, Juvenile

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

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

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]

Febrile Seizures

Febrile Seizure

Febrile Convulsions

Seizures Febrile

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

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

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

Adolescence-Adult Electroclinical Syndrome
Generalized Epilepsy With Febrile Seizures Plus, Type 8

GEFSP8

Gefs+8

Generalized Epilepsy With Febrile Seizures Plus 8

Gefs+, Type 8

Generalised Epilepsy With Febrile Seizures Plus 8

Generalised Epilepsy With Febrile Seizures Plus Type 8

Generalized Epilepsy With Febrile Seizures Plus Type 8

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

Focal Epilepsy

Partial Epilepsy

Epilepsies, Partial

Localisation-Related Epilepsy

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

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

Developmental And Epileptic Encephalopathy 43

DEE43

Epileptic Encephalopathy, Early Infantile, 43

Eiee43

Developmental And Epileptic Encephalopathy, 43

Early Infantile Epileptic Encephalopathy 43

Febrile Seizures, Familial, 4

FEB4

Convulsions, Familial Febrile, 4

Familial Febrile Seizures 4

Familial Febrile Convulsions 4

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

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

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Chromosome 6pter-P24 Deletion Syndrome

6p Subtelomeric Deletion Syndrome

6p25 Microdeletion Syndrome

Distal Monosomy 6p

Distal Deletion 6p

Monosomy 6p25

Epilepsy With Generalized Tonic-Clonic Seizures

Tonic-Clonic Epilepsy

Epileptic Seizures, Tonic-Clonic

Grand Mal Epilepsy

Epilepsy, Tonic-Clonic

Postpartum Depression

Maternity Blues

Postnatal Depression

Depression, Postpartum

Post-Partum Depression

Depression Postpartum

Juvenile Absence Epilepsy

Epilepsy Juvenile Absence

Jae

Childhood Absence Epilepsy

Absence Epilepsy

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

Childhood Electroclinical Syndrome
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Neonatal Period Electroclinical Syndrome
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

Endogenous Depression

Clinical Depression

Unipolar Depression

Depressive Disorder

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

Photosensitive Epilepsy

Pse

Photogenic Epilepsy

Photoparoxysmal Response

Reflex Epilepsy, Photosensitive

Photoparoxysmal Response 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

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

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

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

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

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

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
Canis familiaris GABRD VGNC VGNC:41061
Rattus norvegicus GABRD RGD RGD:61901
Bos taurus GABRD VGNC VGNC:29198
Mus musculus GABRD MGD MGI:95622
Felis catus GABRD VGNC VGNC:62426
Macaca mulatta GABRD VGNC VGNC:72854