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SCNN1B (sodium channel, non-voltage-gated 1, beta subunit)

Identity

Other namesBESC1
ENaCb
ENaCbeta
SCNEB
HGNC (Hugo) SCNN1B
LocusID (NCBI) 6338
Location 16p12.2
Location_base_pair Starts at 23313591 and ends at 23392620 bp from pter ( according to hg19-Feb_2009)
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, non-voltage-gated 1, beta subunit
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
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)AC_000148 NC_000016 NC_018927 NG_011908 NT_187260 NW_001838400 NW_004929400
Consensus coding sequences : CCDS (NCBI)SCNN1B
Cluster EST : UnigeneHs.414614 [ NCBI ]
CGAP (NCI)Hs.414614
Alternative Splicing : Fast-db (Paris)GSHG0011035
Alternative Splicing GalleryENSG00000168447
Gene ExpressionSCNN1B [ NCBI-GEO ]     SCNN1B [ SEEK ]   SCNN1B [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51168 (Uniprot)
NextProtP51168  [Medical]
With graphics : InterProP51168
Splice isoforms : SwissVarP51168 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (EBI)EnaC    Na+channel_ASC    Na+channel_ASC_CS   
Related proteins : CluSTrP51168
Domain families : Pfam (Sanger)ASC (PF00858)   
Domain families : Pfam (NCBI)pfam00858   
DMDM Disease mutations6338
Blocks (Seattle)P51168
Human Protein AtlasENSG00000168447
Peptide AtlasP51168
HPRD02861
IPIIPI00178024   IPI00332882   
Protein Interaction databases
DIP (DOE-UCLA)P51168
IntAct (EBI)P51168
FunCoupENSG00000168447
BioGRIDSCNN1B
IntegromeDBSCNN1B
STRING (EMBL)SCNN1B
Ontologies - Pathways
QuickGOP51168
Ontology : AmiGOprotein 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  ion transmembrane transport  sodium channel complex  sodium ion transmembrane transport  WW domain binding  multicellular organismal water homeostasis  response to stimulus  sensory perception of taste  sodium ion homeostasis  transmembrane transport  extracellular vesicular exosome  
Ontology : EGO-EBIprotein 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  ion transmembrane transport  sodium channel complex  sodium ion transmembrane transport  WW domain binding  multicellular organismal water homeostasis  response to stimulus  sensory perception of taste  sodium ion homeostasis  transmembrane transport  extracellular vesicular exosome  
Pathways : KEGGTaste transduction    Aldosterone-regulated sodium reabsorption   
Protein Interaction DatabaseSCNN1B
DoCM (Curated mutations)SCNN1B
Wikipedia pathwaysSCNN1B
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSCNN1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCNN1B
dbVarSCNN1B
ClinVarSCNN1B
1000_GenomesSCNN1B 
Exome Variant ServerSCNN1B
SNP (GeneSNP Utah)SCNN1B
SNP : HGBaseSCNN1B
Genetic variants : HAPMAPSCNN1B
Genomic VariantsSCNN1B  SCNN1B [DGVbeta]
Mutations
ICGC Data PortalENSG00000168447 
Somatic Mutations in Cancer : COSMICSCNN1B 
CONAN: Copy Number AnalysisSCNN1B 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:23313591-23392620
Mutations and Diseases : HGMDSCNN1B
OMIM177200    211400    264350    600760   
MedgenSCNN1B
NextProtP51168 [Medical]
GENETestsSCNN1B
Disease Genetic AssociationSCNN1B
Huge Navigator SCNN1B [HugePedia]  SCNN1B [HugeCancerGEM]
snp3D : Map Gene to Disease6338
DGIdb (Drug Gene Interaction db)SCNN1B
General knowledge
Homologs : HomoloGeneSCNN1B
Homology/Alignments : Family Browser (UCSC)SCNN1B
Phylogenetic Trees/Animal Genes : TreeFamSCNN1B
Chemical/Protein Interactions : CTD6338
Chemical/Pharm GKB GenePA306
Clinical trialSCNN1B
Cancer Resource (Charite)ENSG00000168447
Other databases
Probes
Litterature
PubMed122 Pubmed reference(s) in Entrez
CoreMineSCNN1B
GoPubMedSCNN1B
iHOPSCNN1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 01:19:59 CET 2014

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