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Aliases & Descriptions for GABRB2
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases MGC119386 2 MGC119388 2 MGC119389 2 OTTHUMP00000160872 2
Descriptions GABA(A) receptor subunit beta-2 3 gamma-aminobutyric acid (GABA) A receptor, beta 2 2 gamma-aminobutyric acid A receptor, beta 2 1
Search outside databases for aliases for GABRB2 genePrevious GC identifers: GC05M160838 GC05M161228 GC05M160656 GC05M160701
Summaries for GABRB2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for GABRB2 : The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates thefastest inhibitory synaptic transmission in the central nervous system. This gene encodes GABA Areceptor, beta 2 subunit. It is mapped to chromosome 5q34 in a cluster comprised of genes encodingalpha 1 and gamma 2 subunits of the GABA A receptor. Alternative splicing of this gene generates 2transcript variants, differing by a 114 bp insertion. [provided by RefSeq] UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870 Function : GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronalinhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
Gene Wiki entry for GABRB2
Genomic Location for GABRB2
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the GABRB2 gene Entrez Gene cytogenetic band: 5q34 Ensembl cytogenetic band: 5q34 HGNC cytogenetic band: 5q34 GABRB2 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 5 GeneLoc Exon Structure
GeneLoc location for GC05M160653:
(about GC identifiers )
Start:
160,648,014 bp from pter
End:
160,907,708 bp from pter
Size:
259,695 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000005.8 NT_023133.12 Proteins for GABRB2
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 )
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UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870 (See
protein sequence )Recommended Name: Gamma-aminobutyric acid receptor subunit beta-2 precursor Size : 474 amino acids; 54606 Da
Subunit : Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma,delta, and rho. Binds UBQLN1
Subcellular location : Cell junction, synapse, postsynaptic cell membrane; Multi-pass membraneprotein. Cell membrane; Multi-pass membrane protein
Secondary accessions : Q16323 Q4FZB2Alternative splicing : 2 isoforms : P47870-1 P47870-2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000804.1 NP_068711.1 ENSEMBL proteins: ENSP00000274546 ENSP00000274547 ENSP00000377531 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 GABRB2: Assays for GABRB2:
Protein
Domains/ Families for GABRB2(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P47870 ProtoNet protein and cluster: P47870
3 Blocks protein families : IPB002289 Gamma-aminobutyric-acid A receptor beta subunit signature IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870 Similarity : Belongs to the ligand-gated ionic channel (TC 1.A.9) family
Gene Function for GABRB2
(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 .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000813 Applied Biosystems Silencer ® siRNAs for GABRB2 Sigma-Aldrich siRNA and siRNA Panels for GABRB2 Sigma-Aldrich shRNA for GABRB2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000813                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000813                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000813  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_021911 UniProtKB/Swiss-Prot: GBRB2_HUMAN, P47870 Function : GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronalinhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel
Genatlas biochemistry entry for GABRB2 :gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 2,subunit,component of a pentamericreceptor mediating inhibitory neurotransmission
5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Gabrb2) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for GABRB2
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for GABRB2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for GABRB2 5/20 Interacting proteins for GABRB2 (P47870 2 ENSP00000274547 3 ) via UniProtKB, MINT, and/or STRING (see all 20
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for GABRB2 (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 )
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Enzo Life Sciences drugs & compounds for GABRB2
Compounds for GABRB2 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]
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Transcripts for GABRB2(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000813 Sigma-Aldrich siRNA and siRNA Panels for GABRB2 Sigma-Aldrich shRNA for GABRB2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000813 NM_021911
REFSEQ mRNAs for GABRB2 gene (2 alternative transcripts): NM_000813.2 NM_021911.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000813 NM_021911
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000813                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000813                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000813  
Additional cDNA sequence: AK055125.1 AK289730.1 AK289815.1 AK294437.1 AK297609.1 BC036592.2 BC099705.1 BC099719.1 BC105639.1 CR621869.1 S67368.1 S77553.1 S77554.1
5 DOTS entries : DT.92416980 DT.206062 DT.102823025 DT.100746805 DT.120819183
16 AceView cDNA sequences :AL118953 CR621869 BX341215 S77553 NM_021911 BX341214 NM_000813 S77554 BX327475 BE697211 S67368 BX493652 BE697247 CD609593 CD609591 CD609589
highest scoring ESTs for GABRB2 :S67368 AL118953 BC099705 BC099719 BE697247 BX327475 BX341214 BX341215 CR621869 NM_000813
Unigene Cluster for GABRB2: Gamma-aminobutyric acid (GABA) A receptor, beta 2 Hs.303527 [show with all ESTs ] Unigene Representative Sequence: NM_021911 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRB2 ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c SP1 :     -                     -         SP2 :                         -         SP3 :                                 SP4 :     -       -                       SP5 :   -                              
About this scheme ECgene alternative splicing isoforms for GABRB2 3 Ensembl transcripts including schematic representations : ENST00000353437
ENST00000274547
ENST00000393959
Expression for GABRB2
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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GABRB2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for GABRB2 1 / 2 / 3
7 probe-sets matching GABRB2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.303527 Expression variation in blood from EXPOLDB for GABRB2
Orthologs for GABRB2
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for GABRB2 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for GABRB2 ENSEMBL Gene Tree for GABRB2 Paralogs for GABRB2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for GABRB2 gene GABRB3 2 GABRB1 2
SNPs/Variants for GABRB2 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for GABRB2 (up to first 250kb)
Disorders & Mutations for GABRB2
(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 .)
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OMIM: 600232 Genetic Association Database: GABRB2 Human Genome Epidemiology Navigator: GABRB2 (19 documents)
Medical News for GABRB2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for GABRB2 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/49 PubMed articles for GABRB2 gene (see all 49
): Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. (PubMed id 16172613) 3, 6 Petryshen T.L....Sklar P. (2005) Association studies of neurotransmitter gene polymorphisms in alcoholic Caucasians. (PubMed id 15542698) 3, 6 Foley P.F....Dodd P.R. (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) Association of the gamma-aminobutyric acid A receptor gene cluster with alcohol dependence in Taiwanese Han. (PubMed id 12232773) 3, 6 Chang Y.T....Cheng A.T. (2002) Association analysis of GABAAbeta2 and gamma2 gene polymorphisms with event-related prefrontal activity in man. (PubMed id 11140951) 3, 6 Winterer G....Sander T. (2000) Cloning, sequence analysis and expression of two forms of mRNA coding for the human beta 2 subunit of the GABAA receptor. (PubMed id 7707873) 3, 4 McKinley D.D.... Carter D.B. (1995) Mapping of the beta 2 subunit gene (GABRB2) to microdissected human chromosome 5q34-q35 defines a gene cluster for the most abundant GABAA receptor isoform. (PubMed id 7851879) 2, 3 Russek S.J. and Farb D.H. (1994) Role of the beta subunit in determining the pharmacology of human gamma-aminobutyric acid type A receptors. (PubMed id 8264558) 3, 4 Hadingham K.L.... Ragan C.I. (1993) No evidence for an association between variants at the gamma-amino-n-butyric acid type A receptor beta2 locus and schizophrenia. (PubMed id 17167345) 1, 3 Jamra R.A....Schumacher J. (2007) Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PubMed id 18334916) 1, 3 Inada T....Arinami T. (2008)
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Genome Databases showing GABRB2
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing GABRB2
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Specialized Databases showing GABRB2 (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
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Name Description
Protein Spotlight http://www.expasy.org/spotlight/back_issues/sptlt056.shtml
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-- Services for GABRB2 (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
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