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GABRB3 (gamma-aminobutyric acid type A receptor beta3 subunit)

Identity

Alias_namesbeta 3
Other aliasECA5
EIEE43
HGNC (Hugo) GABRB3
LocusID (NCBI) 2562
Atlas_Id 46123
Location 15q12  [Link to chromosome band 15q12]
Location_base_pair Starts at 26543546 and ends at 26773076 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APBA2 (15q13.1) / GABRB3 (15q12)GABRB3 (15q12) / DDX1 (2p24.3)GABRB3 (15q12) / FAF1 (1p32.3)
SNRPN (15q11.2) / GABRB3 (15q12)APBA2 15q13.1 / GABRB3 15q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GABRB3   4083
Cards
Entrez_Gene (NCBI)GABRB3  2562  gamma-aminobutyric acid type A receptor beta3 subunit
AliasesECA5; EIEE43
GeneCards (Weizmann)GABRB3
Ensembl hg19 (Hinxton)ENSG00000166206 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166206 [Gene_View]  chr15:26543546-26773076 [Contig_View]  GABRB3 [Vega]
ICGC DataPortalENSG00000166206
TCGA cBioPortalGABRB3
AceView (NCBI)GABRB3
Genatlas (Paris)GABRB3
WikiGenes2562
SOURCE (Princeton)GABRB3
Genetics Home Reference (NIH)GABRB3
Genomic and cartography
GoldenPath hg38 (UCSC)GABRB3  -     chr15:26543546-26773076 -  15q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRB3  -     15q12   [Description]    (hg19-Feb_2009)
EnsemblGABRB3 - 15q12 [CytoView hg19]  GABRB3 - 15q12 [CytoView hg38]
Mapping of homologs : NCBIGABRB3 [Mapview hg19]  GABRB3 [Mapview hg38]
OMIM137192   612269   617113   
Gene and transcription
Genbank (Entrez)AK056018 AK095011 AK295167 AK302822 AK315311
RefSeq transcript (Entrez)NM_000814 NM_001191320 NM_001191321 NM_001278631 NM_021912
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRB3
Cluster EST : UnigeneHs.727263 [ NCBI ]
CGAP (NCI)Hs.727263
Alternative Splicing GalleryENSG00000166206
Gene ExpressionGABRB3 [ NCBI-GEO ]   GABRB3 [ EBI - ARRAY_EXPRESS ]   GABRB3 [ SEEK ]   GABRB3 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2562
GTEX Portal (Tissue expression)GABRB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28472   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28472  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28472
Splice isoforms : SwissVarP28472
PhosPhoSitePlusP28472
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAb_rcpt    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)GABRB3
DMDM Disease mutations2562
Blocks (Seattle)GABRB3
PDB (SRS)4COF   
PDB (PDBSum)4COF   
PDB (IMB)4COF   
PDB (RSDB)4COF   
Structural Biology KnowledgeBase4COF   
SCOP (Structural Classification of Proteins)4COF   
CATH (Classification of proteins structures)4COF   
SuperfamilyP28472
Human Protein AtlasENSG00000166206
Peptide AtlasP28472
HPRD08844
IPIIPI00003467   IPI00217235   IPI00470817   IPI01026236   IPI01026333   IPI01025915   IPI01026119   IPI01024787   IPI00975640   IPI00873700   
Protein Interaction databases
DIP (DOE-UCLA)P28472
IntAct (EBI)P28472
FunCoupENSG00000166206
BioGRIDGABRB3
STRING (EMBL)GABRB3
ZODIACGABRB3
Ontologies - Pathways
QuickGOP28472
Ontology : AmiGOGABA-A receptor activity  plasma membrane  plasma membrane  integral component of plasma membrane  transport  signal transduction  gamma-aminobutyric acid signaling pathway  sensory perception of sound  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  cell junction  cytoplasmic vesicle membrane  ion transmembrane transport  chloride channel complex  negative regulation of neuron apoptotic process  postsynaptic membrane  palate development  inhibitory postsynaptic potential  inner ear receptor cell development  innervation  cellular response to histamine  cochlea development  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  GABA-A receptor complex  
Ontology : EGO-EBIGABA-A receptor activity  plasma membrane  plasma membrane  integral component of plasma membrane  transport  signal transduction  gamma-aminobutyric acid signaling pathway  sensory perception of sound  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  cell junction  cytoplasmic vesicle membrane  ion transmembrane transport  chloride channel complex  negative regulation of neuron apoptotic process  postsynaptic membrane  palate development  inhibitory postsynaptic potential  inner ear receptor cell development  innervation  cellular response to histamine  cochlea development  chloride transmembrane transport  chloride transmembrane transport  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  GABA-A receptor complex  
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    Serotonergic synapse    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRB3
Atlas of Cancer Signalling NetworkGABRB3
Wikipedia pathwaysGABRB3
Orthology - Evolution
OrthoDB2562
GeneTree (enSembl)ENSG00000166206
Phylogenetic Trees/Animal Genes : TreeFamGABRB3
HOVERGENP28472
HOGENOMP28472
Homologs : HomoloGeneGABRB3
Homology/Alignments : Family Browser (UCSC)GABRB3
Gene fusions - Rearrangements
Fusion : MitelmanAPBA2/GABRB3 [15q13.1/15q12]  [t(15;15)(q12;q13)]  
Fusion: TCGAAPBA2 15q13.1 GABRB3 15q12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRB3
dbVarGABRB3
ClinVarGABRB3
1000_GenomesGABRB3 
Exome Variant ServerGABRB3
ExAC (Exome Aggregation Consortium)GABRB3 (select the gene name)
Genetic variants : HAPMAP2562
Genomic Variants (DGV)GABRB3 [DGVbeta]
DECIPHERGABRB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRB3 
Mutations
ICGC Data PortalGABRB3 
TCGA Data PortalGABRB3 
Broad Tumor PortalGABRB3
OASIS PortalGABRB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRB3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABRB3
DgiDB (Drug Gene Interaction Database)GABRB3
DoCM (Curated mutations)GABRB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRB3 (select a term)
intoGenGABRB3
Cancer3DGABRB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137192    612269    617113   
Orphanet10832   
MedgenGABRB3
Genetic Testing Registry GABRB3
NextProtP28472 [Medical]
TSGene2562
GENETestsGABRB3
Target ValidationGABRB3
Huge Navigator GABRB3 [HugePedia]
snp3D : Map Gene to Disease2562
BioCentury BCIQGABRB3
ClinGenGABRB3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2562
Chemical/Pharm GKB GenePA28497
Clinical trialGABRB3
Miscellaneous
canSAR (ICR)GABRB3 (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRB3
EVEXGABRB3
GoPubMedGABRB3
iHOPGABRB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:09:16 CEST 2017

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