 |
 | Services
| |
 |
Aliases & Descriptions for GABRD
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| MGC45284 2 | | OTTHUMP00000038578 2 |
| | | Descriptions |
|---|
| GABA(A) receptor subunit delta 2, 3 | | GABA-A receptor, delta polypeptide 2 | | gamma-aminobutyric acid (GABA) A receptor, delta 2 | | gamma-aminobutyric acid A receptor, delta 1 |
|
| | Search outside databases for aliases for GABRD genePrevious GC identifers: GC01P001512 GC01P9L0120 GC00M9Y0062 |
Summaries for GABRD(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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] UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channelGene Wiki entry for GABRD |
Genomic Location for GABRD
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GABRD gene 
Entrez Gene cytogenetic band: 1p|1p36.3 Ensembl cytogenetic band: 1p36.33 HGNC cytogenetic band: 1p36.3GABRD Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P001913:
(about GC identifiers)
Start:
|
1,940,703 bp from pter |
End:
|
1,952,050 bp from pter |
Size:
|
11,348 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000001.9 NT_004350.18
| Proteins for GABRD
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: Q8N4N9REFSEQ proteins: NP_000806.2
ENSEMBL proteins: ENSP00000367848
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for GABRD: Assays for GABRD: | Protein
Domains/ Families for GABRD(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, O14764Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for GABRD
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000815
Applied Biosystems Silencer® siRNAs for GABRD
Sigma-Aldrich siRNA and siRNA Panels for GABRD  Sigma-Aldrich shRNA for GABRD  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000815                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000815                                  untagged cDNA clone in CMV expression vector: NM_000815 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000815
UniProtKB/Swiss-Prot: GBRD_HUMAN, O14764Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channelGenatlas biochemistry entry for GABRD:gamma-aminobutyric acid (GABA) A receptor,ionotropic,delta,subunit,component of a pentameric receptor mediating inhibitory neurotransmission6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Gabrd):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for GABRD
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for GABRD (Your Favorite Gene powered by Ingenuity) 
5/26 Interacting proteins for GABRD (ENSP000003678483 O147642) via UniProtKB, MINT, and/or STRING (see all 26
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for GABRD(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|  |
Enzo Life Sciences drugs & compounds for GABRD |
Compounds for GABRD available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| 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] | About this table
|
Transcripts for GABRD(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000815
Sigma-Aldrich siRNA and siRNA Panels for GABRD  Sigma-Aldrich shRNA for GABRD  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000815 REFSEQ mRNAs for GABRD gene: NM_000815.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000815               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000815                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000815                                  untagged cDNA clone in CMV expression vector: NM_000815  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 BG702804 R88965 BI757807 BM545512 AW594540 AA984687 BI758571 AF016917 BI757337 BI822807 BM547796 AU122311 AW004058 BX279745 BI829118 BI824761 AI828107 BG037021 BC033801 BI490030 AW291520 BQ067322
highest scoring ESTs for GABRD:AF016917 AI936907 AI445994 AI828107 AU147918 AW004058 AW291520 AW594540 BC033801 BI822807 Unigene Cluster for GABRD: Gamma-aminobutyric acid (GABA) A receptor, delta Hs.113882 [show with all ESTs]Unigene Representative Sequence: NM_000815
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000378585
|
Expression for GABRD
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GABRD expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GABRD
1 / 2 / 3 6 probe-sets matching GABRD gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AAATAAAGCC
SOURCE GeneReport for Unigene cluster: Hs.113882
Expression variation in blood from EXPOLDB for GABRD |
Orthologs for GABRD
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GABRD gene from 5/9 species (see all 9
)
About this table Species with no ortholog for GABRD
ENSEMBL Gene Tree for GABRD | Paralogs for GABRD(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GABRD gene
- GABRP2 GABRQ2
|
SNPs/Variants for GABRD(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for GABRD (up to first 250kb)
|
Disorders & Mutations for GABRD
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 137163
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:604233]. 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 severityHuman Gene Mutation Database: GABRD Genetic Association Database: GABRD Human Genome Epidemiology Navigator: GABRD (2 documents)
|
Medical News for GABRD(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GABRD (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/18 PubMed articles for GABRD gene (see all 18
):- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)3, 4 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)3, 6 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)3, 4 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)3, 4 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)2, 3 Emberger W....Wagner K. (2000)
- The murine GABAA receptor delta-subunit gene: structure and assignment to human chromosome 1. (PubMed id 2176788)2, 3 Sommer B....Seeburg P.H. (1990)
- Altered markers of tonic inhibition in the dorsolateral prefrontal cortex of subjects with schizophrenia. (PubMed id 19289452)3 Maldonado-AvilAcs J.G....Lewis D.A. (2009)
- Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)3 GratacA^s M....Carracedo A. (2008)
- Effect of microdialysis perfusion of 4,5,6,7-tetrahydroisoxazolo-[5,4-c]pyridine-3-ol in the perifornical hypothalamus on sleep-wakefulness: Role of delta-subunit containing extrasynaptic GABA(A) receptors. (PubMed id 18406065)3 Thakkar M.M....McCarley R.W. (2008)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)3 Kimura K.... Sugano S. (2006)
|
Search for GABRD
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GABRD
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GABRD
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GABRD(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for GABRD(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for GABRD:

 | |
 | | | | |
|
 |  |  |
| | | | Tocris compounds for GABRD |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|