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GNB3 (G protein subunit beta 3)

Identity

Alias_namesguanine nucleotide binding protein (G protein)
Other aliasCSNB1H
HGNC (Hugo) GNB3
LocusID (NCBI) 2784
Atlas_Id 43286
Location 12p13.31  [Link to chromosome band 12p13]
Location_base_pair Starts at 6840854 and ends at 6847395 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GNB3 (12p13.31) / GNB3 (12p13.31)GNB3 (12p13.31) / INTS9 (8p21.1)GNB3 (12p13.31) / METAP2 (12q22)
INTS9 (8p21.1) / GNB3 (12p13.31)

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)GNB3   4400
Cards
Entrez_Gene (NCBI)GNB3  2784  G protein subunit beta 3
AliasesCSNB1H
GeneCards (Weizmann)GNB3
Ensembl hg19 (Hinxton)ENSG00000111664 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111664 [Gene_View]  chr12:6840854-6847395 [Contig_View]  GNB3 [Vega]
ICGC DataPortalENSG00000111664
TCGA cBioPortalGNB3
AceView (NCBI)GNB3
Genatlas (Paris)GNB3
WikiGenes2784
SOURCE (Princeton)GNB3
Genetics Home Reference (NIH)GNB3
Genomic and cartography
GoldenPath hg38 (UCSC)GNB3  -     chr12:6840854-6847395 +  12p13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GNB3  -     12p13.31   [Description]    (hg19-Feb_2009)
EnsemblGNB3 - 12p13.31 [CytoView hg19]  GNB3 - 12p13.31 [CytoView hg38]
Mapping of homologs : NCBIGNB3 [Mapview hg19]  GNB3 [Mapview hg38]
OMIM139130   145500   617024   
Gene and transcription
Genbank (Entrez)AB209283 AB593098 AB593099 AF501884 AK313091
RefSeq transcript (Entrez)NM_001297571 NM_002075
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GNB3
Cluster EST : UnigeneHs.631657 [ NCBI ]
CGAP (NCI)Hs.631657
Alternative Splicing GalleryENSG00000111664
Gene ExpressionGNB3 [ NCBI-GEO ]   GNB3 [ EBI - ARRAY_EXPRESS ]   GNB3 [ SEEK ]   GNB3 [ MEM ]
Gene Expression Viewer (FireBrowse)GNB3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2784
GTEX Portal (Tissue expression)GNB3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16520   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16520  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16520
Splice isoforms : SwissVarP16520
PhosPhoSitePlusP16520
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    Gprotein_B    Guanine_nucleotide-bd_bsu    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)GNB3
DMDM Disease mutations2784
Blocks (Seattle)GNB3
SuperfamilyP16520
Human Protein AtlasENSG00000111664
Peptide AtlasP16520
HPRD00743
IPIIPI00029143   IPI00386304   IPI01012519   IPI01011922   IPI01011571   IPI01011186   
Protein Interaction databases
DIP (DOE-UCLA)P16520
IntAct (EBI)P16520
FunCoupENSG00000111664
BioGRIDGNB3
STRING (EMBL)GNB3
ZODIACGNB3
Ontologies - Pathways
QuickGOP16520
Ontology : AmiGOGTPase activity  signal transducer activity  protein binding  cytosol  plasma membrane  protein folding  G-protein coupled receptor signaling pathway  regulation of blood pressure  dendrite  spectrin binding  cell body  GTPase binding  extracellular exosome  cellular response to glucagon stimulus  
Ontology : EGO-EBIGTPase activity  signal transducer activity  protein binding  cytosol  plasma membrane  protein folding  G-protein coupled receptor signaling pathway  regulation of blood pressure  dendrite  spectrin binding  cell body  GTPase binding  extracellular exosome  cellular response to glucagon stimulus  
Pathways : KEGG   
NDEx NetworkGNB3
Atlas of Cancer Signalling NetworkGNB3
Wikipedia pathwaysGNB3
Orthology - Evolution
OrthoDB2784
GeneTree (enSembl)ENSG00000111664
Phylogenetic Trees/Animal Genes : TreeFamGNB3
HOVERGENP16520
HOGENOMP16520
Homologs : HomoloGeneGNB3
Homology/Alignments : Family Browser (UCSC)GNB3
Gene fusions - Rearrangements
Fusion : MitelmanGNB3/METAP2 [12p13.31/12q22]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGNB3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GNB3
dbVarGNB3
ClinVarGNB3
1000_GenomesGNB3 
Exome Variant ServerGNB3
ExAC (Exome Aggregation Consortium)GNB3 (select the gene name)
Genetic variants : HAPMAP2784
Genomic Variants (DGV)GNB3 [DGVbeta]
DECIPHERGNB3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGNB3 
Mutations
ICGC Data PortalGNB3 
TCGA Data PortalGNB3 
Broad Tumor PortalGNB3
OASIS PortalGNB3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGNB3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGNB3
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 GNB3
DgiDB (Drug Gene Interaction Database)GNB3
DoCM (Curated mutations)GNB3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GNB3 (select a term)
intoGenGNB3
Cancer3DGNB3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139130    145500    617024   
Orphanet
MedgenGNB3
Genetic Testing Registry GNB3
NextProtP16520 [Medical]
TSGene2784
GENETestsGNB3
Target ValidationGNB3
Huge Navigator GNB3 [HugePedia]
snp3D : Map Gene to Disease2784
BioCentury BCIQGNB3
ClinGenGNB3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2784
Chemical/Pharm GKB GenePA176
Clinical trialGNB3
Miscellaneous
canSAR (ICR)GNB3 (select the gene name)
Probes
Litterature
PubMed386 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGNB3
EVEXGNB3
GoPubMedGNB3
iHOPGNB3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:35:32 CEST 2017

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