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SCNN1B (sodium channel epithelial 1 beta subunit)

Identity

Other namesBESC1
ENaCb
ENaCbeta
SCNEB
HGNC (Hugo) SCNN1B
LocusID (NCBI) 6338
Atlas_Id 50400
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 23313591 and ends at 23392620 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ERI1 (8p23.1) / SCNN1B (16p12.2)MKL2 (16p13.12) / SCNN1B (16p12.2)MTMR3 (22q12.2) / SCNN1B (16p12.2)
MKL2 16p13.12 / SCNN1B 16p12.2MTMR3 22q12.2 / SCNN1B 16p12.2

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)SCNN1B   10600
Cards
Entrez_Gene (NCBI)SCNN1B  6338  sodium channel epithelial 1 beta subunit
AliasesBESC1; ENaCb; ENaCbeta; SCNEB
GeneCards (Weizmann)SCNN1B
Ensembl hg19 (Hinxton)ENSG00000168447 [Gene_View]  chr16:23313591-23392620 [Contig_View]  SCNN1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000168447 [Gene_View]  chr16:23313591-23392620 [Contig_View]  SCNN1B [Vega]
ICGC DataPortalENSG00000168447
TCGA cBioPortalSCNN1B
AceView (NCBI)SCNN1B
Genatlas (Paris)SCNN1B
WikiGenes6338
SOURCE (Princeton)SCNN1B
Genomic and cartography
GoldenPath hg19 (UCSC)SCNN1B  -     chr16:23313591-23392620 +  16p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SCNN1B  -     16p12.2   [Description]    (hg38-Dec_2013)
EnsemblSCNN1B - 16p12.2 [CytoView hg19]  SCNN1B - 16p12.2 [CytoView hg38]
Mapping of homologs : NCBISCNN1B [Mapview hg19]  SCNN1B [Mapview hg38]
OMIM177200   211400   264350   600760   
Gene and transcription
Genbank (Entrez)AF260226 AK313192 AU105979 BC036352 DQ402523
RefSeq transcript (Entrez)NM_000336
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_011908 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)SCNN1B
Cluster EST : UnigeneHs.414614 [ NCBI ]
CGAP (NCI)Hs.414614
Alternative Splicing GalleryENSG00000168447
Gene ExpressionSCNN1B [ NCBI-GEO ]   SCNN1B [ EBI - ARRAY_EXPRESS ]   SCNN1B [ SEEK ]   SCNN1B [ MEM ]
Gene Expression Viewer (FireBrowse)SCNN1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6338
GTEX Portal (Tissue expression)SCNN1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51168 (Uniprot)
NextProtP51168  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51168
Splice isoforms : SwissVarP51168 (Swissvar)
PhosPhoSitePlusP51168
Domaine pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (EBI)ENaC    Na+channel_ASC    Na+channel_ASC_CS   
Domain families : Pfam (Sanger)ASC (PF00858)   
Domain families : Pfam (NCBI)pfam00858   
DMDM Disease mutations6338
Blocks (Seattle)SCNN1B
SuperfamilyP51168
Human Protein AtlasENSG00000168447
Peptide AtlasP51168
HPRD02861
IPIIPI00178024   IPI00332882   
Protein Interaction databases
DIP (DOE-UCLA)P51168
IntAct (EBI)P51168
FunCoupENSG00000168447
BioGRIDSCNN1B
STRING (EMBL)SCNN1B
ZODIACSCNN1B
Ontologies - Pathways
QuickGOP51168
Ontology : AmiGOresponse to hypoxia  regulation of sodium ion transport  protein binding  plasma membrane  integral component of plasma membrane  sodium ion transport  excretion  external side of plasma membrane  ligand-gated sodium channel activity  apical plasma membrane  cytoplasmic vesicle membrane  ion transmembrane transport  sodium channel complex  wound healing, spreading of epidermal cells  sodium ion transmembrane transport  WW domain binding  multicellular organismal water homeostasis  sensory perception of taste  sodium ion homeostasis  extracellular exosome  
Ontology : EGO-EBIresponse to hypoxia  regulation of sodium ion transport  protein binding  plasma membrane  integral component of plasma membrane  sodium ion transport  excretion  external side of plasma membrane  ligand-gated sodium channel activity  apical plasma membrane  cytoplasmic vesicle membrane  ion transmembrane transport  sodium channel complex  wound healing, spreading of epidermal cells  sodium ion transmembrane transport  WW domain binding  multicellular organismal water homeostasis  sensory perception of taste  sodium ion homeostasis  extracellular exosome  
Pathways : KEGGTaste transduction    Aldosterone-regulated sodium reabsorption   
NDEx NetworkSCNN1B
Atlas of Cancer Signalling NetworkSCNN1B
Wikipedia pathwaysSCNN1B
Orthology - Evolution
OrthoDB6338
GeneTree (enSembl)ENSG00000168447
Phylogenetic Trees/Animal Genes : TreeFamSCNN1B
Homologs : HomoloGeneSCNN1B
Homology/Alignments : Family Browser (UCSC)SCNN1B
Gene fusions - Rearrangements
Fusion: TCGAMKL2 16p13.12 SCNN1B 16p12.2 PRAD
Fusion: TCGAMTMR3 22q12.2 SCNN1B 16p12.2 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerSCNN1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCNN1B
dbVarSCNN1B
ClinVarSCNN1B
1000_GenomesSCNN1B 
Exome Variant ServerSCNN1B
ExAC (Exome Aggregation Consortium)SCNN1B (select the gene name)
Genetic variants : HAPMAP6338
Genomic Variants (DGV)SCNN1B [DGVbeta]
Mutations
ICGC Data PortalSCNN1B 
TCGA Data PortalSCNN1B 
Broad Tumor PortalSCNN1B
OASIS PortalSCNN1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCNN1B 
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
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
BioMutasearch SCNN1B
DgiDB (Drug Gene Interaction Database)SCNN1B
DoCM (Curated mutations)SCNN1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCNN1B (select a term)
intoGenSCNN1B
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:23313591-23392620  ENSG00000168447
CONAN: Copy Number AnalysisSCNN1B 
Mutations and Diseases : HGMDSCNN1B
OMIM177200    211400    264350    600760   
MedgenSCNN1B
Genetic Testing Registry SCNN1B
NextProtP51168 [Medical]
TSGene6338
GENETestsSCNN1B
Huge Navigator SCNN1B [HugePedia]
snp3D : Map Gene to Disease6338
BioCentury BCIQSCNN1B
ClinGenSCNN1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6338
Chemical/Pharm GKB GenePA306
Clinical trialSCNN1B
Miscellaneous
canSAR (ICR)SCNN1B (select the gene name)
Probes
Litterature
PubMed130 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCNN1B
EVEXSCNN1B
GoPubMedSCNN1B
iHOPSCNN1B
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 19 19:12:17 CEST 2016

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