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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GABRD Gene

protein-coding GIFtS: 65
GCID: GC01P001950

gamma-aminobutyric acid (GABA) A receptor, delta

Explore 14 diseases affiliated with
GABRD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Gamma-Aminobutyric Acid (GABA) A Receptor, Delta¹ ²		GEFSP5² ⁵
GABA(A) Receptor Subunit Delta² ³		GABA(A) Receptor, Delta²
EIG10² ⁵		GABA-A Receptor, Delta Polypeptide²
EJM7² ⁵		Gamma-Aminobutyric Acid Receptor Subunit Delta²

External Ids:	HGNC: 4084¹	Entrez Gene: 2563²	Ensembl: ENSG00000187730⁷	OMIM: 137163⁵	UniProtKB: O14764³

Export aliases for GABRD gene to outside databases

Previous GC identifers: GC01P001512 GC01P001913 GC01P9L0120 GC00M9Y0062 GC01P001234

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GABRD:

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)

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764

Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding

to the GABA/benzodiazepine receptor and opening an integral chloride channel

summary for GABRD:

GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediating

the inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consisting

of 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).

The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 with

a single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sites

for benzodiazepines, barbiturates, neurosteroids and ethanol.

Gene Wiki entry for GABRD

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004350.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GABRD gene promoter:
Egr-3 AREB6 NF-1/L NF-1 NF-AT4 NRSF form 1 NRSF form 2 NF-AT1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GABRD promoter sequence

Search SABiosciences Chromatin IP Primers for GABRD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GABRD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.3 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36.3

GABRD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GABRD gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P001950: view genomic region (about GC identifiers)

Start:	1,950,768 bp from pter	End:	1,962,192 bp from pter
Size:	11,425 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764 (See protein sequence)

Recommended Name: Gamma-aminobutyric acid receptor subunit delta precursor

Size: 452 amino acids; 50708 Da

Subunit: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane;

Multi-pass membrane protein

Secondary accessions: Q8N4N9

Explore the universe of human proteins at neXtProt for GABRD: NX_O14764

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14764

GABRD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000806.2

ENSEMBL proteins:

ENSP00000367848

Human Recombinant Protein Products for GABRD:

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	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005887	integral to plasma membrane	TAS	2176788
GO:0030054	cell junction	IEA	--
GO:0034707	chloride channel complex	IEA	--
GO:0045211	postsynaptic membrane	IEA	--

GABRD for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GABRD for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR008098 GABAAd_rcpt

IPR018000 Neurotransmitter_ion_chnl_CS

IPR006028 GABAA_rcpt

IPR006201 Neur_channel

IPR006202 Neur_chan_lig-bd

Graphical View of Domain Structure for InterPro Entry O14764

ProtoNet protein and cluster: O14764

3 Blocks protein families:

IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature

IPB006201 Neurotransmitter-gated ion-channel

IPB008098 Gamma-aminobutyric-acid A receptor delta subunit signature

UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764

Similarity: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5)

subfamily. GABRD sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: GBRD_HUMAN, O14764

Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding

to the GABA/benzodiazepine receptor and opening an integral chloride channel

Genatlas biochemistry entry for GABRD:

gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric receptor mediating

inhibitory neurotransmission

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004890	GABA-A receptor activity	IEA	--
GO:0005230	extracellular ligand-gated ion channel activity	IEA	--
GO:0005254	chloride channel activity	IEA	--

GABRD for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Gabrd):

behavior/neurological

hearing/vestibular/ear

mortality/aging

nervous system

reproductive system

GABRD for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Gabrd^tm1Geh for GABRD

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for GABRD

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		hsa-miR-205* hsa-miR-3649
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRD

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

GABA A receptor activation

Synaptic Neurotransmission: GABAergic Inhibition

0.45

GABA signaling in brain

0.26

Akt Signaling

Akt Signaling

1.00

Apoptosis Pathway

Akt Pathway

0.39

Class A/1 (Rhodopsin-like receptors)

Neuroactive ligand-receptor interaction

0.38

Sweet Taste Signaling

Sperm Motility

0.36

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for GABRD

GABA signaling in brain

1 R&D Systems Pathway for GABRD

Synaptic Neurotransmission: GABAergic Inhibition

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GABRD

	Sperm Motility
	Akt Signaling

1 Tocris Bioscience Pathway for GABRD

Akt Pathway

1 Kegg Pathway (Kegg details for GABRD):

Neuroactive ligand-receptor interaction

GABRD for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for GABRD

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/7 Interacting proteins for GABRD (O14764^{2, 3} ENSP00000367848⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBQLN1	Q9UMX0²^,³, ENSP00000365576⁴	MINT-66488 I2D: score=5 STRING: ENSP00000365576
UBQLN4	Q9NRR5²^,³, ENSP00000357292⁴	MINT-2859100 I2D: score=3 STRING: ENSP00000357292
WNK1	Q9H4A3³	I2D: score=2
MDFI	Q99750³	I2D: score=1
PLSCR1	O15162³	I2D: score=1

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	TAS	2176788
GO:0007165	signal transduction	TAS	2176788
GO:0007268	synaptic transmission	IEA	--

GABRD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for GABRD available from Tocris Bioscience About this table

Compound	Action	CAS #
Muscimol	Potent GABAA agonist	[2763-96-4]
(+)-Bicuculline	Potent GABAA antagonist	[485-49-4]
Indiplon	Subtype-selective GABAA receptor positive allosteric modulator	[325715-02-4]
L-655,708	Selective for alpha5-containing GABAA receptors	[130477-52-0]
SR 95531 hydrobromide	Selective, competitive GABAA receptor antagonist	[104104-50-9]

2 HMDB Compounds for GABRD About this table

Compound	Synonyms	CAS #	PubMed Ids
Chlorine	Cl2 (see all 13)	16887-00-6	--
Gamma-Aminobutyric acid	3-Carboxypropylamine (see all 27)	56-12-2	--

10/23 DrugBank Compounds for GABRD (see all 23) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Lorazepam	(+/-)-Lorazepam (see all 3)	846-49-1	target	potentiator	20138190 18384456 11752090
Adinazolam	--	37115-32-5	target	potentiator	6320036 6148400
Chlordiazepoxide	--	58-25-3	target	potentiator	18384456 11752090
Clobazam	--	22316-47-8	target	potentiator	18384456 11752090
Clonazepam	Chlonazepam (see all 2)	1622-61-3	target	potentiator	18384456 11752090
Clorazepate	--	23887-31-2	target	potentiator	18384456 11752090
Diazepam	--	439-14-5	target	potentiator	18384456 11752090
Estazolam	--	29975-16-4	target	potentiator	639854 2889803
Flurazepam	--	17617-23-1	target	potentiator	18384456 11752090
Halazepam	--	23092-17-3	target	potentiator	2867566 6738302

Search CenterWatch for drugs/clinical trials and news about GABRD / GBRD

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GABRD gene:

NM_000815.4

Unigene Cluster for GABRD:

Gamma-aminobutyric acid (GABA) A receptor, delta

Hs.113882 [show with all ESTs]

Unigene Representative Sequence: NM_000815

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000378585(uc001aip.2)

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		hsa-miR-205* hsa-miR-3649
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GABRD

Additional cDNA sequence:

AF016917.1 AK290861.1 BC033801.1

2 DOTS entries:

DT.95160910 DT.453178

24/35 AceView cDNA sequences (see all 35):

NM_000815 BQ951978 BM547796 BG702804 BI824761 BI822807 R88965 AW004058

AW594540 BX279745 AF016917 BI757337 AI828107 AA984687 BI758571 AU122311

BC033801 BG037021 BM545512 BI829118 BI757807 BI490030 AW291520 AI936907

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GABRD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATAAAGCC

About this image

GABRD expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Brain

Medulla Oblongata

Brain

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GABRD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GABRD

SOURCE GeneReport for Unigene cluster: Hs.113882

SABiosciences Expression via Pathway-Focused PCR Arrays including GABRD:

Neurotransmitter Receptors in human mouse rat

GABA & Glutamate in human mouse rat

Huntington's Disease in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRD

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for GABRD gene from 2/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	GABRD¹	gamma-aminobutyric acid (GABA) A receptor, delta	75.47(n) 85.28(a)		770710 XM_001234040.1 XP_001234041.1
zebrafish (Danio rerio)	Actinopterygii	LOC571422¹	similar to Gamma-aminobutyric acid receptor subunit delta precursor (GABA(A) receptor subunit delta) less	74.08(n) 79.63(a)		571422 XM_695007.4 XP_700099.4

ENSEMBL Gene Tree for GABRD (if available)
TreeFam Gene Tree for GABRD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for GABRD gene

GLRA2² GABRR1² GLRB² GLRA1² GABRB1² GLRA4² GABRP² GABRB2²

GABRQ² GABRB3² GLRA3² GABRR2²

18/24 SIMAP similar genes for GABRD using alignment to 1 protein entry: GBRD_HUMAN(see all similar genes):

GABRP GABRQ GABRR2 GABRR1 DKFZp781L0846 GABRB1

GABRR3 GLRA4 GABRA2 GABRB3 GABRA4 GABRB2

GABRG3 GABRE GABRG2 GLRA1 GLRA2 GLRA3

GABRD for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs41307846^1,2	C,F	other	1959699(+)	`CTACCG/ACTTCA`	2	/H /R	mis¹		4		NA EU	5299
rs4481796^1,2	C,F,H	--	1948805(+)	`TTGTCC/TCTTAA`	1	--	us2k¹		23		NS EA NA WA CSA	2350
rs145029696^1,2		--	1948871(+)	`GAAGAA/TAATGG`	1	--	us2k¹		0	--	--	--	--
rs145404660^1,2		--	1948951(+)	`GATCAA/GCACCA`	1	--	us2k¹		0	--	--	--	--
rs181445713^1,2		--	1948979(+)	`CTCTTC/TGCAGA`	1	--	us2k¹		0	--	--	--	--
rs6676808^1,2	C	--	1949001(+)	`TTGCGA/CCCATG`	1	--	us2k¹		2		NA	4
rs186985248^1,2		--	1949029(+)	`AGTTCC/TAAAGC`	1	--	us2k¹		0	--	--	--	--
rs149228195^1,2		--	1949142(+)	`CTCCTA/CCATTT`	1	--	us2k¹		0	--	--	--	--
rs191830945^1,2		--	1949355(+)	`ACCCCA/GGGAAC`	1	--	us2k¹		0	--	--	--	--
rs142393320^1,2		--	1949400(+)	`CCTCTC/TGGCAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for GABRD (1950768 - 1962192 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for GABRD
1 CNV: 3276
Human Gene Mutation Database (HGMD): GABRD

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GABRD for disorders           About GeneDecksing

OMIM gene information: 137163
OMIM disorders: 604233  613060
UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764

Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5

(GEFS+5) [MIM:613060]. Generalized epilepsy with febrile seizures-plus refers to a rare familial condition with

incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes

beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures,

generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree

of severity

Defects in GABRD are the cause of susceptibility to epilepsy, idiopathic generalized type 10 (EIG10)

[MIM:613060]. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions

and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the

brain

Defects in GABRD are the cause of susceptibility to juvenile myoclonic epilepsy type 7 (EJM7) [MIM:613060]. A

subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather

than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and

fatigue

14 diseases for GABRD: About MalaCards

febrile seizures generalized epilepsy generalized epilepsy with febrile seizures plus, type 5 generalized epilepsy with febrile seizures plus

epilepsy, idiopathic generalized, 10 seizures juvenile myoclonic epilepsy idiopathic generalized epilepsy

focal epilepsy intellectual disability huntington's disease ataxia

schizophrenia neuronitis

2 diseases from the University of Copenhagen DISEASES database for GABRD:

Idiopathic generalized epilepsy Dravet Syndrome

Genetic Association Database (GAD): GABRD
Human Genome Epidemiology (HuGE) Navigator: GABRD (7 documents)

Export disorders for GABRD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GABRD gene, integrated from 9 sources (see all 37):
(articles sorted by number of sources associating them with GABRD)

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world of online information

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. (PubMed id 16023832)^{1, 4} Lenzen K.P....Sander T. (2005)
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. (PubMed id 15115768)^{1, 2} Dibbens L.M.... Mulley J.C. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping. (PubMed id 10965146)^{1, 3} Emberger W....Wagner K. (2000)
The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1. (PubMed id 2176788)^{1, 3} Sommer B....Seeburg P.H. (1990)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
Molecular basis for the high THIP/gaboxadol sensitivi ty of extrasynaptic GABA(A) receptors. (PubMed id 21795619)¹ Meera P....Otis T.S. (2011)
Atypical behavioural effects of lorazepam: clues to t he design of novel therapies? (PubMed id 20138190)⁷ Giersch A....Vidailhet P. (2010)
Association of the GABRD gene and childhood-onset moo d disorders. (PubMed id 20561060)¹ Feng Y....Barr C.L. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2563	HGNC: 4084	AceView: GABRD	Ensembl:ENSG00000187730	euGenes: HUgn2563
ECgene: GABRD	Kegg: 2563	H-InvDB: GABRD

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for GABRD	Pharmacogenomics, SNPs, Pathways

Intellectual Property for GABRD gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for GABRD gene:
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GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section

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gamma-aminobutyric acid (GABA) A receptor, delta

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GABRD Gene

gamma-aminobutyric acid (GABA) A receptor, delta

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