Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GABRB2 (gamma-aminobutyric acid type A receptor beta2 subunit)

Identity

Alias_namesbeta 2
Other alias-
HGNC (Hugo) GABRB2
LocusID (NCBI) 2561
Atlas_Id 53681
Location 5q34  [Link to chromosome band 5q34]
Location_base_pair Starts at 161288429 and ends at 161548124 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GALNT10 (5q33.2) / GABRB2 (5q34)

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)GABRB2   4082
Cards
Entrez_Gene (NCBI)GABRB2  2561  gamma-aminobutyric acid type A receptor beta2 subunit
Aliases
GeneCards (Weizmann)GABRB2
Ensembl hg19 (Hinxton)ENSG00000145864 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145864 [Gene_View]  chr5:161288429-161548124 [Contig_View]  GABRB2 [Vega]
ICGC DataPortalENSG00000145864
TCGA cBioPortalGABRB2
AceView (NCBI)GABRB2
Genatlas (Paris)GABRB2
WikiGenes2561
SOURCE (Princeton)GABRB2
Genetics Home Reference (NIH)GABRB2
Genomic and cartography
GoldenPath hg38 (UCSC)GABRB2  -     chr5:161288429-161548124 -  5q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRB2  -     5q34   [Description]    (hg19-Feb_2009)
EnsemblGABRB2 - 5q34 [CytoView hg19]  GABRB2 - 5q34 [CytoView hg38]
Mapping of homologs : NCBIGABRB2 [Mapview hg19]  GABRB2 [Mapview hg38]
OMIM600232   
Gene and transcription
Genbank (Entrez)A28108 AK055125 AK289730 AK289815 AK294437
RefSeq transcript (Entrez)NM_000813 NM_021911
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRB2
Cluster EST : UnigeneHs.303527 [ NCBI ]
CGAP (NCI)Hs.303527
Alternative Splicing GalleryENSG00000145864
Gene ExpressionGABRB2 [ NCBI-GEO ]   GABRB2 [ EBI - ARRAY_EXPRESS ]   GABRB2 [ SEEK ]   GABRB2 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRB2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2561
GTEX Portal (Tissue expression)GABRB2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP47870   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP47870  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP47870
Splice isoforms : SwissVarP47870
PhosPhoSitePlusP47870
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)GABRB2
DMDM Disease mutations2561
Blocks (Seattle)GABRB2
SuperfamilyP47870
Human Protein AtlasENSG00000145864
Peptide AtlasP47870
HPRD02578
IPIIPI00026639   IPI00216394   IPI00954901   IPI00955985   IPI00922558   IPI00982847   IPI00975760   
Protein Interaction databases
DIP (DOE-UCLA)P47870
IntAct (EBI)P47870
FunCoupENSG00000145864
BioGRIDGABRB2
STRING (EMBL)GABRB2
ZODIACGABRB2
Ontologies - Pathways
QuickGOP47870
Ontology : AmiGOGABA-A receptor activity  GABA-A receptor activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  cytosol  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  sensory perception of sound  cell junction  cytoplasmic vesicle membrane  ion transmembrane transport  chloride channel complex  negative regulation of neuron apoptotic process  postsynaptic membrane  synaptic transmission, GABAergic  inner ear receptor cell development  innervation  extracellular exosome  cellular response to histamine  cochlea development  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  
Ontology : EGO-EBIGABA-A receptor activity  GABA-A receptor activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  cytosol  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  sensory perception of sound  cell junction  cytoplasmic vesicle membrane  ion transmembrane transport  chloride channel complex  negative regulation of neuron apoptotic process  postsynaptic membrane  synaptic transmission, GABAergic  inner ear receptor cell development  innervation  extracellular exosome  cellular response to histamine  cochlea development  chloride transmembrane transport  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 NetworkGABRB2
Atlas of Cancer Signalling NetworkGABRB2
Wikipedia pathwaysGABRB2
Orthology - Evolution
OrthoDB2561
GeneTree (enSembl)ENSG00000145864
Phylogenetic Trees/Animal Genes : TreeFamGABRB2
HOVERGENP47870
HOGENOMP47870
Homologs : HomoloGeneGABRB2
Homology/Alignments : Family Browser (UCSC)GABRB2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRB2
dbVarGABRB2
ClinVarGABRB2
1000_GenomesGABRB2 
Exome Variant ServerGABRB2
ExAC (Exome Aggregation Consortium)GABRB2 (select the gene name)
Genetic variants : HAPMAP2561
Genomic Variants (DGV)GABRB2 [DGVbeta]
DECIPHERGABRB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRB2 
Mutations
ICGC Data PortalGABRB2 
TCGA Data PortalGABRB2 
Broad Tumor PortalGABRB2
OASIS PortalGABRB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRB2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRB2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABRB2
DgiDB (Drug Gene Interaction Database)GABRB2
DoCM (Curated mutations)GABRB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRB2 (select a term)
intoGenGABRB2
Cancer3DGABRB2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600232   
Orphanet
MedgenGABRB2
Genetic Testing Registry GABRB2
NextProtP47870 [Medical]
TSGene2561
GENETestsGABRB2
Target ValidationGABRB2
Huge Navigator GABRB2 [HugePedia]
snp3D : Map Gene to Disease2561
BioCentury BCIQGABRB2
ClinGenGABRB2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2561
Chemical/Pharm GKB GenePA28496
Clinical trialGABRB2
Miscellaneous
canSAR (ICR)GABRB2 (select the gene name)
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRB2
EVEXGABRB2
GoPubMedGABRB2
iHOPGABRB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:34:41 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.