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SCNN1G (sodium channel epithelial 1 gamma subunit)

Identity

Alias_namessodium channel, nonvoltage-gated 1, gamma
sodium channel, non-voltage-gated 1, gamma
sodium channel, non-voltage-gated 1, gamma subunit
sodium channel, non voltage gated 1 gamma subunit
sodium channe epithelial 1 gamma subunit
Alias_symbol (synonym)ENaCgamma
SCNEG
Other aliasBESC3
ENaCg
PHA1
HGNC (Hugo) SCNN1G
LocusID (NCBI) 6340
Atlas_Id 53976
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 23194040 and ends at 23228200 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RALGAPB (20q11.23) / SCNN1G (16p12.2)SCNN1G (16p12.2) / COL27A1 (9q32)WFDC2 (20q13.12) / SCNN1G (16p12.2)
SCNN1G 16p12.2 / COL27A1 9q32

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)SCNN1G   10602
Cards
Entrez_Gene (NCBI)SCNN1G  6340  sodium channel epithelial 1 gamma subunit
AliasesBESC3; ENaCg; ENaCgamma; PHA1; 
SCNEG
GeneCards (Weizmann)SCNN1G
Ensembl hg19 (Hinxton)ENSG00000166828 [Gene_View]  chr16:23194040-23228200 [Contig_View]  SCNN1G [Vega]
Ensembl hg38 (Hinxton)ENSG00000166828 [Gene_View]  chr16:23194040-23228200 [Contig_View]  SCNN1G [Vega]
ICGC DataPortalENSG00000166828
TCGA cBioPortalSCNN1G
AceView (NCBI)SCNN1G
Genatlas (Paris)SCNN1G
WikiGenes6340
SOURCE (Princeton)SCNN1G
Genetics Home Reference (NIH)SCNN1G
Genomic and cartography
GoldenPath hg19 (UCSC)SCNN1G  -     chr16:23194040-23228200 +  16p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SCNN1G  -     16p12.2   [Description]    (hg38-Dec_2013)
EnsemblSCNN1G - 16p12.2 [CytoView hg19]  SCNN1G - 16p12.2 [CytoView hg38]
Mapping of homologs : NCBISCNN1G [Mapview hg19]  SCNN1G [Mapview hg38]
OMIM177200   264350   600761   613071   
Gene and transcription
Genbank (Entrez)BC059391 BC069652 DQ402524 L36592 U48936
RefSeq transcript (Entrez)NM_001039
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_011909 NT_187260 NW_004929400
Consensus coding sequences : CCDS (NCBI)SCNN1G
Cluster EST : UnigeneHs.371727 [ NCBI ]
CGAP (NCI)Hs.371727
Alternative Splicing GalleryENSG00000166828
Gene ExpressionSCNN1G [ NCBI-GEO ]   SCNN1G [ EBI - ARRAY_EXPRESS ]   SCNN1G [ SEEK ]   SCNN1G [ MEM ]
Gene Expression Viewer (FireBrowse)SCNN1G [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6340
GTEX Portal (Tissue expression)SCNN1G
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51170   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51170  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51170
Splice isoforms : SwissVarP51170
PhosPhoSitePlusP51170
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   
Conserved Domain (NCBI)SCNN1G
DMDM Disease mutations6340
Blocks (Seattle)SCNN1G
SuperfamilyP51170
Human Protein AtlasENSG00000166828
Peptide AtlasP51170
HPRD02862
IPIIPI00016450   
Protein Interaction databases
DIP (DOE-UCLA)P51170
IntAct (EBI)P51170
FunCoupENSG00000166828
BioGRIDSCNN1G
STRING (EMBL)SCNN1G
ZODIACSCNN1G
Ontologies - Pathways
QuickGOP51170
Ontology : AmiGOion channel activity  sodium channel activity  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  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  extracellular exosome  
Ontology : EGO-EBIion channel activity  sodium channel activity  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  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  extracellular exosome  
Pathways : KEGGTaste transduction    Aldosterone-regulated sodium reabsorption   
NDEx NetworkSCNN1G
Atlas of Cancer Signalling NetworkSCNN1G
Wikipedia pathwaysSCNN1G
Orthology - Evolution
OrthoDB6340
GeneTree (enSembl)ENSG00000166828
Phylogenetic Trees/Animal Genes : TreeFamSCNN1G
HOVERGENP51170
HOGENOMP51170
Homologs : HomoloGeneSCNN1G
Homology/Alignments : Family Browser (UCSC)SCNN1G
Gene fusions - Rearrangements
Fusion : MitelmanSCNN1G/COL27A1 [16p12.2/9q32]  
Fusion: TCGASCNN1G 16p12.2 COL27A1 9q32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCNN1G [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCNN1G
dbVarSCNN1G
ClinVarSCNN1G
1000_GenomesSCNN1G 
Exome Variant ServerSCNN1G
ExAC (Exome Aggregation Consortium)SCNN1G (select the gene name)
Genetic variants : HAPMAP6340
Genomic Variants (DGV)SCNN1G [DGVbeta]
DECIPHER (Syndromes)16:23194040-23228200  ENSG00000166828
CONAN: Copy Number AnalysisSCNN1G 
Mutations
ICGC Data PortalSCNN1G 
TCGA Data PortalSCNN1G 
Broad Tumor PortalSCNN1G
OASIS PortalSCNN1G [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCNN1G  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCNN1G
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 SCNN1G
DgiDB (Drug Gene Interaction Database)SCNN1G
DoCM (Curated mutations)SCNN1G (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCNN1G (select a term)
intoGenSCNN1G
Cancer3DSCNN1G(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM177200    264350    600761    613071   
Orphanet17948    927    10802   
MedgenSCNN1G
Genetic Testing Registry SCNN1G
NextProtP51170 [Medical]
TSGene6340
GENETestsSCNN1G
Huge Navigator SCNN1G [HugePedia]
snp3D : Map Gene to Disease6340
BioCentury BCIQSCNN1G
ClinGenSCNN1G
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6340
Chemical/Pharm GKB GenePA307
Clinical trialSCNN1G
Miscellaneous
canSAR (ICR)SCNN1G (select the gene name)
Probes
Litterature
PubMed110 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCNN1G
EVEXSCNN1G
GoPubMedSCNN1G
iHOPSCNN1G
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:26:24 CET 2017

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