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Aliases & Descriptions for GABRQ
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| MGC129629 2 | | MGC129630 2 | | THETA 1, 2 |
| | | Descriptions |
|---|
| GABA(A) receptor subunit theta 3 | | GABA-A receptor theta subunit 2 | | gamma-aminobutyric acid (GABA) receptor, theta 2 | | gamma-aminobutyric acid receptor, theta 1 |
|
| | Search outside databases for aliases for GABRQ genePrevious GC identifers: GC0XP146146 GC0XP148463 GC0XP149554 GC0XP150424 |
Summaries for GABRQ(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GABRQ: The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA A receptor, theta subunit. It is mapped to chromosome Xq28 in a cluster including the genes encoding the alpha 3 and epsilon subunits of the same receptor. This gene location is also the candidate region of 2 different neurologic diseases: early-onset parkinsonism (Waisman syndrome) and X-linked mental retardation (MRX3). [provided by RefSeq] UniProtKB/Swiss-Prot: GBRT_HUMAN, Q9UN88Function: 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 |
Genomic Location for GABRQ
(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 GABRQ gene 
Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28GABRQ 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 X GeneLoc Exon Structure GeneLoc location for GC0XP151477:
(about GC identifiers)
Start:
|
151,557,293 bp from pter |
End:
|
151,576,655 bp from pter |
Size:
|
19,363 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000023.9 NT_011726.13
| Proteins for GABRQ
(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: GBRT_HUMAN, Q9UN88 (See
protein sequence)Recommended Name: Gamma-aminobutyric acid receptor subunit theta precursor Size: 632 amino acids; 72022 Da
Subunit: Generally pentameric. This subunit coassembles with alpha-2, beta-1 and gamma-1
Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: Q32MB4 Q9NZK8Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_061028.1
ENSEMBL proteins: ENSP00000276369 ENSP00000359329 ENSP00000331410
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 GABRQ: Assays for GABRQ: | Protein
Domains/ Families for GABRQ(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 Q9UN88
ProtoNet protein and cluster: Q9UN88 3 Blocks protein families: IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel IPB008101 Gamma-aminobutyric-acid A receptor theta subunit signature
UniProtKB/Swiss-Prot: GBRT_HUMAN, Q9UN88Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for GABRQ
(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_018558
Applied Biosystems Silencer® siRNAs for GABRQ
Sigma-Aldrich siRNA and siRNA Panels for GABRQ  Sigma-Aldrich shRNA for GABRQ  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_018558                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_018558                                  untagged cDNA clone in CMV expression vector: NM_018558 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_018558
UniProtKB/Swiss-Prot: GBRT_HUMAN, Q9UN88Function: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Gabrq):
5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
): About this table | Pathways & Interactions for GABRQ
(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 GABRQ (Your Favorite Gene powered by Ingenuity) 
5/32 Interacting proteins for GABRQ (ENSP000002763693) via UniProtKB, MINT, and/or STRING (see all 32
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for GABRQ(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 GABRQ |
Compounds for GABRQ 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 GABRQ(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_018558
Sigma-Aldrich siRNA and siRNA Panels for GABRQ  Sigma-Aldrich shRNA for GABRQ  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_018558 REFSEQ mRNAs for GABRQ gene: NM_018558.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_018558               OriGene GFP tagged cDNA clone in CMV expression vector: NM_018558                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_018558                                  untagged cDNA clone in CMV expression vector: NM_018558  Additional cDNA sequence: AF144648.1 AF189259.1 BC109210.1 BC109211.1 U47334.1 1 DOTS entry: DT.92067225 5 AceView cDNA sequences:BU553845 AF189259 NM_018558 AF144648 BF934691
highest scoring ESTs for GABRQ:AF144648 AF189259 BF934691 BU553845 NM_018558 BC109210 BC109211 U47334 BG778981 BP250476 Unigene Cluster for GABRQ: Gamma-aminobutyric acid (GABA) receptor, theta Hs.283081 [show with all ESTs]Unigene Representative Sequence: NM_018558
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000276369
ENST00000370306
ENST00000333733
|
Expression for GABRQ
(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
| GABRQ expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GABRQ
1 / 2 / 3 5 probe-sets matching GABRQ gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: GCCAAGAGAA
SOURCE GeneReport for Unigene cluster: Hs.283081
|
Orthologs for GABRQ
(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 GABRQ gene from 5/7 species (see all 7
)
About this table Species with no ortholog for GABRQ
ENSEMBL Gene Tree for GABRQ | Paralogs for GABRQ(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GABRQ gene
- GABRD2 GABRP2
|
SNPs/Variants for GABRQ(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 GABRQ (up to first 250kb)
|
Disorders & Mutations for GABRQ
(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: 300349
Human Genome Epidemiology Navigator: GABRQ (3 documents)
|
Medical News for GABRQ(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GABRQ (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
| 8 PubMed articles for GABRQ gene:- GABAA receptor epsilon and theta subunits display unusual structural variation between species and are enriched in the rat locus ceruleus. (PubMed id 10804200)2, 3, 4 Sinkkonen S.T.... Korpi E.R. (2000)
- theta, a novel gamma-aminobutyric acid type A receptor subunit. (PubMed id 10449790)2, 3, 4 Bonnert T.P....Whiting P.J. (1999)
- 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)
- Investigation of gamma-aminobutyric acid (GABA) A receptors genes and migraine susceptibility. (PubMed id 19087248)1, 3 Fernandez F....Griffiths L.R. (2008)
- Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. (PubMed id 19078961)3 Craddock N....O'Donovan M.C. (2008)
- 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)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)3 Strausberg R.L....Marra M.A. (2002)
- Molecular and functional diversity of the expanding GABA-A receptor gene family. (PubMed id 10414349)3 Whiting P.J....Wafford K.A. (1999)
|
Search for GABRQ
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GABRQ
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GABRQ
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GABRQ(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 GABRQ(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 GABRQ:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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