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

Also Known as EJM7; EIG10; GEFSP5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2563

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Verweise	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	Verweise	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

GABRD Protein Structure

Neur_chan_LBD

Neur_chan_memb

0
100
200
300
400
452 a.a.

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

GABRD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	GABRD	O14764	UBQLN1	Homo sapiens	Q9UMX0-2	Y2H Array	25416956
Intra	GABRD	O14764	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	GABRD	O14764	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	GABRD	O14764	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	GABRD	O14764	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	25416956
Intra	GABRD	O14764	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	25416956
Intra	GABRD	O14764	UBQLN1	Homo sapiens	Q9UMX0	Y2H Pooling	16189514

Cross: Cross-species interaction Intra: Intraspecies interaction

GABRD Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P810242	GABRD Antibody (YA9586)	WB, ICC/IF, IF-Tissue, IP, ELISA	human, mouse, rat
HY-P811133	GABRD Antibody	WB, IHC-P	Human, Mouse, Rat

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05218	GABRD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	GABRD	NCBI