GABRB3 Gene
protein-coding GIFtS : 70 GCID: GC15 M026788
gamma-aminobutyric acid (GABA) A receptor, beta 3
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Aliasesfor GABRB3 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Gamma-Aminobutyric Acid (GABA) A Receptor, Beta 3 1 2 GABA-Alpha Receptor Beta-2 Subunit2 ECA52 5 GABAA Receptor Beta-3 Subunit2 GABA(A) Receptor Beta-3 Subunit2 Gamma-Aminobutyric Acid Receptor Subunit Beta-32 GABA(A) Receptor, Beta 32 GABA(A) Receptor Subunit Beta-33
Export aliases for GABRB3 gene to outside databases Previous GC identifers: GC15M022994 GC15M019538 GC15M024209 GC15M024338 GC15M024342 GC15M004917
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Summariesfor GABRB3 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for GABRB3 : This gene encodes a member of the ligand-gated ionic channel family. The encoded protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. This gene is located on the long arm of chromosome 15 in a cluster with two genes encoding related subunits of the family. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism. Alternatively spliced transcript variants encoding distinct isoforms have been described. (provided by RefSeq, Jul 2010) UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472 Function : GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by bindingto the GABA/benzodiazepine receptor and opening an integral chloride channel summary
for GABRB3 : GABAA receptors are members of the cys-loop family of ligand-gated ion channels, responsible for mediatingthe inhibitory effects of GABA alongside GABAB and GABAC receptors. They are pentameric proteins, consistingof 5 subunits belonging to different families (alpha1-6, beta1-3, gamma1-3, delta, pi, epsilon, rho, theta).The most abundant GABAA receptor in the mammalian brain consist of two copies each of alpha1 and beta2 witha single gamma2 subunits. GABAA receptors contain an integral chloride channel, and have modulatory sitesfor benzodiazepines, barbiturates, neurosteroids and ethanol. Gene Wiki entry for GABRB3
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Genomic Viewsfor GABRB3 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000015.9 NC_018926.1 NT_026446.14 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the GABRB3 gene promoter:NRSF form 1 AP-4 NRSF form 2 Other transcription factors Search SABiosciences Chromatin IP Primers for GABRB3 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 15q12 Ensembl cytogenetic band: 15q12 HGNC cytogenetic band: 15q12 GABRB3 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15M026788: view genomic region
(about GC identifiers )
Start: 26,788,693 bp from pter End:
27,184,686 bp from pter
Size: 395,994 bases Orientation:
minus strand
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Proteinsfor GABRB3 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472 See
protein sequence )Recommended Name: Size : 473 amino acids; 54116 DaSubunit : 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 : B7Z2W1 H7BYV8 Q14352 Q96FM5Alternative splicing : 3 isoforms : P28472-1 P28472-2 P28472-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for GABRB3: NX_P28472 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P28472 GABRB3 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins (4 alternative transcripts): NP_000805.1 NP_001178249.1 NP_001178250.1 NP_068712.1 ENSEMBL proteins: ENSP00000308725 ENSP00000442408 ENSP00000299267 ENSP00000383049 ENSP00000452041 ENSP00000439169 ENSP00000451077 ENSP00000452272 ENSP00000452159 ENSP00000451430 Reactome Protein details: P28472 Human Recombinant Protein Products for GABRB3: Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6 ): About this table
About GeneDecksing GABRB3 Antibody Products: Assay Products for GABRB3:
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Protein
Domains /for GABRB3 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry P28472 ProtoNet protein and cluster: P28472
3 Blocks protein families : IPB002289 IPB006028 IPB006201 UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472 Similarity : Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5)subfamily. GABRB3 sub-subfamily
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Functionfor GABRB3 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: GBRB3_HUMAN, P28472 Function : GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by bindingto the GABA/benzodiazepine receptor and opening an integral chloride channel
Genatlas biochemistry entry for GABRB3 gamma-aminobutyric acid (GABA) A receptor,ionotropic,beta 3,subunit,component of a pentameric receptor mediating inhibitory neurotransmission putatively involved in epileptic seizures in Angelman syndrome (ANCR),unlikely to be involved in autism Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0004890 GABA-A receptor activity
IEA -- GO:0005230 extracellular ligand-gated ion channel activity
IEA -- GO:0005254 chloride channel activity
IEA --
About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for GABRB3 :11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Gabrb3) :About GeneDecksing Animal Models: Gabrb3 tm2.2Geh Gabrb3 tm1Geh Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 7 )human mouse rat see all 4 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 4 ): GABRB3 (NM_021912 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GABRB3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GABRB3
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB3
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Pathways & Interactionsfor GABRB3 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/11 super-pathways (see all 11 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 GABA A receptor activation 2 Transmission across Chemical Synapses 3 Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 4 G Protein Signaling Pathways 5 Ion channel transport
Pathway sources See GeneCards unified pathways Show all pathways 3 1 2 1 2 5/8 (see all 8 )1 (Kegg details for GABRB3) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GABRB3 STRING Interaction
Network Preview (showing 5 interactants - click image to see 18)5/18 Interacting proteins for GABRB3 (P28472 3 ENSP00000299267 4 via UniProtKB, MINT, STRING , and/or I2D (see all 18 )About this table Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9 ): About this table
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Drugs & Compoundsfor GABRB3 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Compounds for GABRB3 available from Tocris Bioscience About this table Compound Action
CAS
# 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]
2 HMDB Compounds for GABRB3 About this table 10/27 DrugBank Compounds for GABRB3 (see all 27 )About this table 1 Novoseek chemical compound relationship for GABRB3 gene About this table GABRB3 / GBRB3
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Transcriptsfor GABRB3 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for GABRB3 gene (4 alternative transcripts): NM_000814.5 NM_001191320.1 NM_001191321.1 NM_021912.4 Unigene Cluster for GABRB3:
Gamma-aminobutyric acid (GABA) A receptor, beta 3 Hs.302352 [show with all ESTs ] Unigene Representative Sequence: NM_000814 14 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000311550 (uc021sgg.1 uc021sgh.1 uc001zaz.3 uc001zba.3 )ENST00000541819 (uc001zbb.3 ) ENST00000299267 ENST00000400188 ENST00000555632 ENST00000545868 ENST00000554556 ENST00000557765 ENST00000555094 ENST00000555811 ENST00000556636 ENST00000556166 (uc001zbc.3 ) ENST00000557641 ENST00000554722 Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 7 )human mouse rat see all 4 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 4 ): GABRB3 (NM_021912 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for GABRB3 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GABRB3
Additional cDNA sequence: AK056018.1 AK095011.1 AK295167.1 AK302822.1 AK315311.1 BC010641.1 M82919.1
5 DOTS entries : DT.114079 DT.97860651
DT.92419326 DT.101977158 DT.121034552 24/179 AceView cDNA sequences (see all 179 ):
BX095863 CR597025 T17052 NM_021912 F04698 AW593469 BX340796 CB162957 NM_000814 BF432823 AI208093 Z45038 BC010641 BM021465 BE673640 BF592810 AI693153 BM711834 AI206318 AI915876 F03168 AI638301 BX366284 AA826370 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for GABRB3 About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 SP1 : - - - - - SP2 : - - - - - - SP3 : SP4 : SP5 :
ECgene alternative splicing isoforms for GABRB3
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Expression for GABRB3 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section GABRB3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: AAAAAACAGCAbout this image GABRB3 expression in embryonic tissues and stem cells About this table
See GABRB3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for GABRB3 SOURCE GeneReport for Unigene cluster: Hs.302352 SABiosciences Expression via Pathway-Focused PCR Arrays including GABRB3 : Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB3
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Orthologsfor GABRB3 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for GABRB3 gene from 5/19 species (see all 19 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
chicken Aves GABRB31
gamma-aminobutyric acid (GABA) A receptor, beta 3
82.73(n) 91.97(a)
396290 NM_205346.2 NP_990677.1
lizard Reptilia GABRB36
--
90(a)
1 ↔ 1
3(110242994-110271459)
zebrafish Actinopterygii LOC5669221
gamma-aminobutyric acid receptor subunit beta-3-like
74.86(n) 85.9(a)
566922 XM_002662494.2 XP_002662540.1
fruit fly Insecta Lcch31 3
GABA-A receptor3 1
49(a) 3 54.07(n) 1 50.32(a) 1
14A13 32554 1 NM_206746.1 1 NP_996469.1 1
worm Secernentea gab-11 3
GABA receptor3 1
43(a) 3 52.41(n) 1 50.47(a) 1
III(12844721-12850963)3 176691 1 NM_067260.2 1 NP_499661.2 1
ENSEMBL Gene Tree for GABRB3 (if available)TreeFam Gene Tree for GABRB3 (if available)
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Paralogsfor GABRB3 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for GABRB3 gene GLRA2 2 GABRR1 2 GLRB 2 GLRA1 2 GABRB1 2 GABRD 2 GABRP 2 GLRA4 2 GABRB2 2 GABRQ 2 GLRA3 2 GABRR2 2 18/24 SIMAP similar genes for GABRB3 using alignment to 9 protein entries: GBRB3_HUMAN (see all proteins )
(see all similar genes ):DKFZp781L0846 GABRB1 GABRB2 GABRQ GABRP GABRA3 GABRA5 GABRA2 GABRR2 GLRA4 GABRA6 GABRD GABRR1 GABRG3 GABRR3 GABRE GLRA2 GLRA3 About GeneDecksing
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Genomic Variantsfor GABRB3 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 15 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for GABRB3 (26788693 - 27038693 bp, first 250kb of GABRB3)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for GABRB3 1 CNV 72207 Human Gene Mutation Database (HGMD) : GABRB3 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor GABRB3 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 137192 OMIM disorders : 612269 UniProtKB/Swiss-Prot: GBRB3_HUMAN, P28472 Note=Defects in GABRB3 are associated with chronic insomnia, a condition of inability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition Defects in GABRB3 are the cause of childhood absence epilepsy type 5 (ECA5) [MIM:612269]. ECA5 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Absence seizures may either remit or persist into adulthood 20/34 (see all 34 ): About MalaCards prader-willi syndrome angelman syndrome epilepsy, childhood absence, susceptibility to, 5 post-traumatic stress disorder pervasive developmental disorder childhood absence epilepsy absence epilepsy cleft lip/palate diaphragmatic eventration juvenile myoclonic epilepsy temporal lobe epilepsy idiopathic generalized epilepsy generalized epilepsy cleft lip cleft palate autism spectrum disorder orofacial cleft atypical autism anorexia nervosa intellectual disability 6 diseases from the University of Copenhagen DISEASES database for GABRB3 :Angelman syndrome Prader-Willi syndrome Autistic disorder Juvenile absence epilepsy Childhood disintegrative disease Diaphragmatic eventration 10/11 Novoseek disease relationships for GABRB3 gene (see all 11 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
angelman syndrome
92.5
14
10515160 (2), 8389098 (2), 10514831 (1), 8094063 (1) (see all 10 )
prader-willi syndrome
77.8
2
8188218 (1), 1664410 (1)
childhood absence epilepsy
76.1
4
20308251 (1), 15498372 (1), 18514161 (1), 12194792 (1)
autistic
65.1
6
17598645 (2), 12491987 (2), 12092907 (1), 11920158 (1)
rett syndrome
52
1
17339270 (1)
pervasive developmental disorder
45.1
1
11785506 (1)
cleft palate
38.3
6
18452349 (3), 8389469 (1)
epilepsy
35
2
20308251 (1), 10515160 (1)
chromosomal aberrations
24.9
1
12491987 (1)
alcoholism
20.1
3
15296817 (2)
Genetic Association Database (GAD): GABRB3 Human Genome Epidemiology (HuGE) Navigator: GABRB3 (37 documents) Export disorders for GABRB3 gene to outside databases
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Publicationsfor GABRB3 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for GABRB3 gene, integrated from 9 sources (see all 151 ):(articles sorted by number of sources associating them with GABRB3) Utopia : connect your pdf to the dynamic
Alcohol-related expectancies are associated with the D2 dopamine receptor and GABAA receptor beta3 subunit genes. (PubMed id 15296817) 1 , 4, 9(2004) The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. (PubMed id 1664410) 1 , 2 , 9(1991) Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. (PubMed id 18514161) 1 , 2 , 9(2008) A strong promoter element is located between alternative exons of a gene encoding the human gamma-aminobutyric acid-type A receptor beta 3 subunit (GABRB3). (PubMed id 8382702) 1 , 2 , 9(1993) Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15. (PubMed id 1714232) 1 , 2 , 9(1991) Association between a GABRB3 polymorphism and autism. (PubMed id 11920158) 1 , 4, 9(2002) ADH1B*1, ADH1C*2, DRD2 (-141C Ins), and 5-HTTLPR are associated with alcoholism in Mexican American men living in Los Angeles. (PubMed id 15318112) 1 , 4, 9(2004) Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. (PubMed id 16080114) 1 , 4(2005) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 (2004) Polymorphisms of the dopamine D2 receptor, serotonin transporter, and GABA(A) receptor beta(3) subunit genes and alcoholism in Mexican-Americans. (PubMed id 15066703) 1 , 4(2004)
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External Searches for GABRB3 gene
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Genome Databases showing GABRB3 gene
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Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
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Other Databases showing GABRB3 gene
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Specialized Databases showing GABRB3 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for GABRB3 Pharmacogenomics, SNPs, Pathways Protein Spotlight http://web.expasy.org/spotlight/back_issues/sptlt056.shtml
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About This Section Patent Information for GABRB3 gene: GABRB3 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor GABRB3 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for GABRB3 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for GABRB3 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for GABRB3 OriGene 3'-UTR Clone for GABRB3 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for GABRB3 OriGene Custom Protein Services for GABRB3 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GABRB3 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human mouse rat QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GABRB3
ThermoFisher Antibodies for GABRB3
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat GABRB3
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summary
for 
Kegg Pathway 
Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine 
Negative
Selective marker
In-situ hybridization
