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SCNN1A (sodium channel, non-voltage-gated 1 alpha subunit)

Identity

Other namesBESC2
ENaCa
ENaCalpha
SCNEA
SCNN1
HGNC (Hugo) SCNN1A
LocusID (NCBI) 6337
Location 12p13.31
Location_base_pair Starts at 6456009 and ends at 6484905 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)SCNN1A   10599
Cards
Entrez_Gene (NCBI)SCNN1A  6337  sodium channel, non-voltage-gated 1 alpha subunit
GeneCards (Weizmann)SCNN1A
Ensembl (Hinxton)ENSG00000111319 [Gene_View]  chr12:6456009-6484905 [Contig_View]  SCNN1A [Vega]
ICGC DataPortalENSG00000111319
AceView (NCBI)SCNN1A
Genatlas (Paris)SCNN1A
WikiGenes6337
SOURCE (Princeton)NM_001038 NM_001159575 NM_001159576
Genomic and cartography
GoldenPath (UCSC)SCNN1A  -  12p13.31   chr12:6456009-6484905 -  12p13.31   [Description]    (hg19-Feb_2009)
EnsemblSCNN1A - 12p13.31 [CytoView]
Mapping of homologs : NCBISCNN1A [Mapview]
OMIM264350   600228   613021   
Gene and transcription
Genbank (Entrez)AK025536 AK172792 AK304379 AY365119 BC006526
RefSeq transcript (Entrez)NM_001038 NM_001159575 NM_001159576
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_011945 NT_009759 NW_001838050 NW_004929382
Consensus coding sequences : CCDS (NCBI)SCNN1A
Cluster EST : UnigeneHs.591047 [ NCBI ]
CGAP (NCI)Hs.591047
Alternative Splicing : Fast-db (Paris)GSHG0007198
Alternative Splicing GalleryENSG00000111319
Gene ExpressionSCNN1A [ NCBI-GEO ]     SCNN1A [ SEEK ]   SCNN1A [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP37088 (Uniprot)
NextProtP37088  [Medical]
With graphics : InterProP37088
Splice isoforms : SwissVarP37088 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (EBI)EnaC    Na+channel_ASC    Na+channel_ASC_CS   
Related proteins : CluSTrP37088
Domain families : Pfam (Sanger)ASC (PF00858)   
Domain families : Pfam (NCBI)pfam00858   
DMDM Disease mutations6337
Blocks (Seattle)P37088
PDB (SRS)2M3O   
PDB (PDBSum)2M3O   
PDB (IMB)2M3O   
PDB (RSDB)2M3O   
Human Protein AtlasENSG00000111319
Peptide AtlasP37088
HPRD02575
IPIIPI00019931   IPI00334114   IPI00334115   IPI00334116   IPI00334117   IPI00975819   IPI00796903   IPI01009746   IPI00941259   IPI00929433   IPI01009257   
Protein Interaction databases
DIP (DOE-UCLA)P37088
IntAct (EBI)P37088
FunCoupENSG00000111319
BioGRIDSCNN1A
InParanoidP37088
Interologous Interaction database P37088
IntegromeDBSCNN1A
STRING (EMBL)SCNN1A
Ontologies - Pathways
Ontology : AmiGOactin binding  protein binding  cytosol  plasma membrane  integral component of plasma membrane  sodium ion transport  excretion  external side of plasma membrane  ligand-gated sodium channel activity  apical plasma membrane  cortical actin cytoskeleton  motile cilium  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  ciliary membrane  extracellular vesicular exosome  
Ontology : EGO-EBIactin binding  protein binding  cytosol  plasma membrane  integral component of plasma membrane  sodium ion transport  excretion  external side of plasma membrane  ligand-gated sodium channel activity  apical plasma membrane  cortical actin cytoskeleton  motile cilium  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  ciliary membrane  extracellular vesicular exosome  
Pathways : KEGGTaste transduction    Aldosterone-regulated sodium reabsorption   
Protein Interaction DatabaseSCNN1A
Wikipedia pathwaysSCNN1A
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SCNN1A
SNP (GeneSNP Utah)SCNN1A
SNP : HGBaseSCNN1A
Genetic variants : HAPMAPSCNN1A
1000_GenomesSCNN1A 
ICGC programENSG00000111319 
CONAN: Copy Number AnalysisSCNN1A 
Somatic Mutations in Cancer : COSMICSCNN1A 
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
Mutations and Diseases : HGMDSCNN1A
OMIM264350    600228    613021   
MedgenSCNN1A
GENETestsSCNN1A
Disease Genetic AssociationSCNN1A
Huge Navigator SCNN1A [HugePedia]  SCNN1A [HugeCancerGEM]
Genomic VariantsSCNN1A  SCNN1A [DGVbeta]
Exome VariantSCNN1A
dbVarSCNN1A
ClinVarSCNN1A
snp3D : Map Gene to Disease6337
General knowledge
Homologs : HomoloGeneSCNN1A
Homology/Alignments : Family Browser (UCSC)SCNN1A
Phylogenetic Trees/Animal Genes : TreeFamSCNN1A
Chemical/Protein Interactions : CTD6337
Chemical/Pharm GKB GenePA305
Clinical trialSCNN1A
Cancer Resource (Charite)ENSG00000111319
Other databases
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
CoreMineSCNN1A
iHOPSCNN1A
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:15:09 CEST 2014

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