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Aliases & Descriptions for GABRA6
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| MGC116903 2 | | MGC116904 2 |
| | | Descriptions |
|---|
| GABA subunit A receptor alpha 6 2 | | GABA(A) receptor subunit alpha-6 3 | | gamma-aminobutyric acid (GABA) A receptor, alpha 6 2 | | gamma-aminobutyric acid A receptor, alpha 6 2 |
|
| | Search outside databases for aliases for GABRA6 genePrevious GC identifers: GC05P161230 GC05P161620 GC05P161048 GC05P161093 |
Summaries for GABRA6(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GABRA6: 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. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq] UniProtKB/Swiss-Prot: GBRA6_HUMAN, Q16445Function: 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 GABRA6 |
Genomic Location for GABRA6
(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 GABRA6 gene 
Entrez Gene cytogenetic band: 5q34 Ensembl cytogenetic band: 5q34 HGNC cytogenetic band: 5q34GABRA6 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 GC05P161045:
(about GC identifiers)
Start:
|
161,045,236 bp from pter |
End:
|
161,062,176 bp from pter |
Size:
|
16,941 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000005.8 NT_023133.12
| Proteins for GABRA6
(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: GBRA6_HUMAN, Q16445 (See
protein sequence)Recommended Name: Gamma-aminobutyric acid receptor subunit alpha-6 precursor Size: 453 amino acids; 51024 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 membrane protein. Cell membrane; Multi-pass membrane protein
Secondary accessions: Q4VAV2Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000802.2
ENSEMBL proteins: ENSP00000274545
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 GABRA6: Assays for GABRA6: | Protein
Domains/ Families for GABRA6(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 Q16445
ProtoNet protein and cluster: Q16445 4 Blocks protein families: IPB001390 Gamma-aminobutyric-acid A receptor alpha subunit signature IPB005436 Gamma-aminobutyric-acid A receptor alpha 6 subunit signature IPB006028 Gamma-aminobutyric acid A (GABAA) receptor signature IPB006201 Neurotransmitter-gated ion-channel
UniProtKB/Swiss-Prot: GBRA6_HUMAN, Q16445Similarity: Belongs to the ligand-gated ionic channel (TC 1.A.9) family | Gene Function for GABRA6
(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_000811
Applied Biosystems Silencer® siRNAs for GABRA6
Sigma-Aldrich siRNA and siRNA Panels for GABRA6  Sigma-Aldrich shRNA for GABRA6  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000811                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000811                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000811 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000811
UniProtKB/Swiss-Prot: GBRA6_HUMAN, Q16445Function: 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 GABRA6:gamma-aminobutyric acid (GABA) A receptor,ionotropic,alpha 6,subunit,component of a pentameric receptor mediating inhibitory neurotransmission,expressed in the cerebellar granule cells and the related cells of cochlear nucleus5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Gabra6):
5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6
): About this table | Pathways & Interactions for GABRA6
(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 GABRA6 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for GABRA6 
5/21 Interacting proteins for GABRA6 (ENSP000002745453) via UniProtKB, MINT, and/or STRING (see all 21
)About this table
4 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for GABRA6(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 GABRA6 |
Compounds for GABRA6 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
1 PharmGKB drug compound relationship for GABRA6 gene
| Drug compound |
PharmGKB Relations |
PubMed IDs for articles supporting these relationships |
| diazepam | CO  GN   | 10484961 | About this table
|
Transcripts for GABRA6(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_000811
Sigma-Aldrich siRNA and siRNA Panels for GABRA6  Sigma-Aldrich shRNA for GABRA6  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000811 REFSEQ mRNAs for GABRA6 gene: NM_000811.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000811               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000811                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000811                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000811  Additional cDNA sequence: AK090735.1 AK289461.1 BC096241.3 BC096242.3 BC099640.3 BC099641.3 S81944.1 4 DOTS entries: DT.209578 DT.120819196 DT.95191076 DT.120819139 16 AceView cDNA sequences:BX488017 F10732 S81944 F13129 BX508021 BX279910 AW952267 CK003547 NM_000811 AK090735 BX488001 BG211331 BG220722 AA297014 AA297038 R38700
highest scoring ESTs for GABRA6:S81944 AA297014 AA297038 AK090735 AW952267 BG198853 BG220722 BX279910 F13129 BC096241 Unigene Cluster for GABRA6: Gamma-aminobutyric acid (GABA) A receptor, alpha 6 Hs.90791 [show with all ESTs]Unigene Representative Sequence: NM_000811
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for GABRA6
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | |
| SP1: | |   | - |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for GABRA6
1 Ensembl transcript including schematic representation: ENST00000274545
|
Expression for GABRA6
(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
| GABRA6 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GABRA6
1 / 2 / 3 4 probe-sets matching GABRA6 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTGGAGGCCT
SOURCE GeneReport for Unigene cluster: Hs.90791
Expression variation in blood from EXPOLDB for GABRA6 |
Orthologs for GABRA6
(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 GABRA6 gene from 5/10 species (see all 10
)
About this table Species with no ortholog for GABRA6
ENSEMBL Gene Tree for GABRA6 | Paralogs for GABRA6(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for GABRA6 gene
- GABRA42 GABRA32
|
SNPs/Variants for GABRA6(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 GABRA6 (up to first 250kb)
|
Disorders & Mutations for GABRA6
(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: 137143
Genetic Association Database: GABRA6 Human Genome Epidemiology Navigator: GABRA6 (17 documents)
|
Medical News for GABRA6(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GABRA6 (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
| 10/33 PubMed articles for GABRA6 gene (see all 33
):- GABRA6 gene polymorphism and an attenuated stress response. (PubMed id 15197399)1, 3, 6 Uhart M....Wand G.S. (2004)
- Cloning of cDNAs encoding the human gamma-aminobutyric acid type A receptor alpha 6 subunit and characterization of the pharmacology of alpha 6-containing receptors. (PubMed id 8632757)1, 3, 4 Hadingham K.L.... Whiting P.J. (1996)
- 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)
- Serotonin transporter and GABAA alpha 6 receptor variants are associated with neuroticism. (PubMed id 14744464)3, 6 Sen S....Burmeister M. (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 between a variant at the GABA(A)alpha6 receptor subunit gene, abdominal obesity, and cortisol secretion. (PubMed id 12079890)3, 6 Rosmond R....Bjorntorp P. (2002)
- 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)
- Allelic variants in the GABA(A)alpha6 receptor subunit gene (GABRA6) is associated with abdominal obesity and cortisol secretion. (PubMed id 12080446)3, 6 Rosmond R....Bjorntorp P. (2002)
- Further evidence for clustering of human GABAA receptor subunit genes: localization of the alpha 6-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis. (PubMed id 8020978)2, 3 Hicks A.A....Darlison M.G. (1994)
|
Search for GABRA6
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GABRA6
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GABRA6
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GABRA6(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
|
| Name | Description |
| Protein Spotlight | http://www.expasy.org/spotlight/back_issues/sptlt056.shtml |
|
| | | About This Section
| --
| Services for GABRA6(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 GABRA6:

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