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Aliases & Descriptions for GABRA2
(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 FLJ97076 2 OTTHUMP00000125269 2
Descriptions GABA(A) receptor subunit alpha-2 3 gamma-aminobutyric acid (GABA) A receptor, alpha 2 2 gamma-aminobutyric acid A receptor, alpha 2 2
Search outside databases for aliases for GABRA2 genePrevious GC identifers: GC04M046323 GC04M046561 GC04M046101 GC04M046167 GC04M046092
Summaries for GABRA2 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for GABRA2 : GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-Areceptors, which are ligand-gated chloride channels. Chloride conductance of these channels can bemodulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinctsubunits of GABA-A receptors have been identified. Alternatively spliced transcript variantsencoding the same protein have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869 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 GABRA2
Genomic Location for GABRA2
(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 GABRA2 gene Entrez Gene cytogenetic band: 4p12 Ensembl cytogenetic band: 4p12 HGNC cytogenetic band: 4p12 GABRA2 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 4 GeneLoc Exon Structure
GeneLoc location for GC04M045946:
(about GC identifiers )
Start:
45,946,341 bp from pter
End:
46,086,702 bp from pter
Size:
140,362 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000004.10 NT_006238.10 Proteins for GABRA2
(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: GBRA2_HUMAN, P47869 (See
protein sequence )Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-2 precursor Size : 451 amino acids; 51326 Da
Subunit : Binds UBQLN1 (By similarity). 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 membraneprotein. Cell membrane; Multi-pass membrane protein
Secondary accessions : Q59G14
REFSEQ proteins (2 alternative transcripts):
NP_000798.2 NP_001107647.1 ENSEMBL proteins: ENSP00000348897 ENSP00000371033 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for GABRA2: Assays for GABRA2:
Protein
Domains/ Families for GABRA2(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 P47869 ProtoNet protein and cluster: P47869
4 Blocks protein families : IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature IPB005432 Gamma-aminobutyric-acid A receptor alpha 2 subunit signature IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869 Similarity : Belongs to the ligand-gated ionic channel (TC 1.A.9) family
Gene Function for GABRA2
(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
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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 3 ): NM_001114175 Applied Biosystems Silencer ® siRNAs for GABRA2 Sigma-Aldrich siRNA and siRNA Panels for GABRA2 Sigma-Aldrich shRNA for GABRA2 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000807                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000807                                  untagged cDNA clones in CMV expression vector (see all 3 ): BC022488  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000807 UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869 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 GABRA2 :gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 2,subunit,component of a pentamericreceptor mediating inhibitory neurotransmission
6 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Gabra2) :5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
):
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Pathways & Interactions for GABRA2
(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 GABRA2 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for GABRA2 5/19 Interacting proteins for GABRA2 (ENSP00000348897 3 ) via UniProtKB, MINT, and/or STRING (see all 19
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for GABRA2 (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 GABRA2
Compounds for GABRA2 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 GABRA2(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
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_001114175 Sigma-Aldrich siRNA and siRNA Panels for GABRA2 Sigma-Aldrich shRNA for GABRA2 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000807 NM_001114175
REFSEQ mRNAs for GABRA2 gene (2 alternative transcripts): NM_000807.2 NM_001114175.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000807 NM_001114175
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000807                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000807                                  untagged cDNA clones in CMV expression vector (see all 3 ): BC022488  
Additional cDNA sequence: AB209295.1 AK125179.1 AK289662.1 AK293466.1 AK307128.1 BC022488.1 S62907.1
11 DOTS entries : DT.100730139 DT.40118515 DT.451945 DT.121227076 DT.121231246 DT.40240103 DT.40122528 DT.101983883 DT.101983881 DT.101983887 DT.95254812
24/37 AceView cDNA sequences (see all 37
):AI634558 AL134748 R39763 AK125179 AI801878 CD014117 CD014111 BC022488 CD014113 CD014109 CD014115 CD014110 CD014108 CD014112 BF594289 S62907 CD014107 NM_000807 BI757084 CD014114 BG699503 AW043891 R16175 T65530
highest scoring ESTs for GABRA2 :S62907 BC022488 BG699503 N46354 AB209295 AI634558 AI801878 AK125179 AL134748 AW043891
Unigene Cluster for GABRA2: Gamma-aminobutyric acid (GABA) A receptor, alpha 2 Hs.116250 [show with all ESTs ] Unigene Representative Sequence: NM_001114175 GeneLoc Exon Structure 5/14 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA2 (see all 14
) ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b SP1 :           -               -         SP2 :   -   -       -                       SP3 :           -               -   -       SP4 :           -           -     -   -       SP5 :           -             -   -   -      
About this scheme ECgene alternative splicing isoforms for GABRA2 2 Ensembl transcripts including schematic representations : ENST00000356504
ENST00000381620
Expression for GABRA2
(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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GABRA2 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for GABRA2 1 / 2 / 3
6 probe-sets matching GABRA2 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GAATAAATATSOURCE GeneReport for Unigene cluster: Hs.116250 Expression variation in blood from EXPOLDB for GABRA2
Orthologs for GABRA2
(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 GABRA2 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for GABRA2 ENSEMBL Gene Tree for GABRA2 Paralogs for GABRA2 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for GABRA2 gene GABRA5 2 GABRA1 2
SNPs/Variants for GABRA2 (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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UniProtKB/Swiss-Prot: GBRA2_HUMAN, P47869 Polymorphism : Genetic variations in GABRA2 determine the genetic susceptibility to alcoholism[MIM:103780]
HapMap Linkage Disequilibrium images for GABRA2 (up to first 250kb)
Disorders & Mutations for GABRA2
(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: 137140 disorders : 103780 Genetic Association Database: GABRA2 Human Genome Epidemiology Navigator: GABRA2 (23 documents)
Medical News for GABRA2 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for GABRA2 (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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10/39 PubMed articles for GABRA2 gene (see all 39
): Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. (PubMed id 15024690) 3, 4, 6 Edenberg H.J.... Begleiter H. (2004) Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis. (PubMed id 16395124) 3, 6 Fehr C....Szegedi A. (2006) GABRA2 alleles moderate the subjective effects of alcohol, which are attenuated by finasteride. (PubMed id 15702134) 3, 6 Pierucci-Lagha A....Kranzler H.R. (2005) Association between alcoholism and gamma-amino butyric acid alpha2 receptor subtype in a Russian population. (PubMed id 15834213) 3, 6 Lappalainen J....Gelernter J. (2005) Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114) 3, 6 Ma D.Q....Pericak-Vance M.A. (2005) Allelic and haplotypic association of GABRA2 with alcohol dependence. (PubMed id 15274050) 3, 6 Covault J....Kranzler H.R. (2004) Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma- aminobutyric acidA receptor subunits and characterization of the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA receptors. (PubMed id 8391122) 3, 4 Hadingham K.L.... Whiting P.J. (1993) GABA-A2 receptor subunit gene (GABRA2) polymorphisms and risk for alcohol dependence. (PubMed id 17207817) 1, 3 Soyka M....Bondy B. (2008) Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and FagerstrAPm Test for Nicotine Dependence. (PubMed id 19207358) 3 Agrawal A....Madden P.A. (2009) Association of childhood trauma exposure and GABRA2 polymorphisms with risk of posttraumatic stress disorder in adults. (PubMed id 19229201) 3 Nelson E.C....Madden P.A. (2009)
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Genome Databases showing GABRA2
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Specialized Databases showing GABRA2 (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 GABRA2 (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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