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SCNN1D (sodium channel, non-voltage-gated 1, delta subunit)

Identity

Other namesENaCd
ENaCdelta
SCNED
dNaCh
HGNC (Hugo) SCNN1D
LocusID (NCBI) 6339
Location 1p36.33
Location_base_pair Starts at 1215816 and ends at 1227409 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)SCNN1D   10601
Cards
Entrez_Gene (NCBI)SCNN1D  6339  sodium channel, non-voltage-gated 1, delta subunit
GeneCards (Weizmann)SCNN1D
Ensembl (Hinxton)ENSG00000162572 [Gene_View]  chr1:1215816-1227409 [Contig_View]  SCNN1D [Vega]
ICGC DataPortalENSG00000162572
AceView (NCBI)SCNN1D
Genatlas (Paris)SCNN1D
WikiGenes6339
SOURCE (Princeton)NM_001130413 NM_002978
Genomic and cartography
GoldenPath (UCSC)SCNN1D  -  1p36.33   chr1:1215816-1227409 +  1p36.33   [Description]    (hg19-Feb_2009)
EnsemblSCNN1D - 1p36.33 [CytoView]
Mapping of homologs : NCBISCNN1D [Mapview]
OMIM601328   
Gene and transcription
Genbank (Entrez)AA617657 AA622685 AK093239 AK093372 AK127357
RefSeq transcript (Entrez)NM_001130413 NM_002978
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NT_032977 NW_001838585 NW_004929288
Consensus coding sequences : CCDS (NCBI)SCNN1D
Cluster EST : UnigeneHs.512681 [ NCBI ]
CGAP (NCI)Hs.512681
Alternative Splicing : Fast-db (Paris)GSHG0000025
Alternative Splicing GalleryENSG00000162572
Gene ExpressionSCNN1D [ NCBI-GEO ]     SCNN1D [ SEEK ]   SCNN1D [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51172 (Uniprot)
NextProtP51172  [Medical]
With graphics : InterProP51172
Splice isoforms : SwissVarP51172 (Swissvar)
Domaine pattern : Prosite (Expaxy)ASC (PS01206)   
Domains : Interpro (EBI)EnaC    Na+channel_ASC    Na+channel_ASC_CS   
Related proteins : CluSTrP51172
Domain families : Pfam (Sanger)ASC (PF00858)   
Domain families : Pfam (NCBI)pfam00858   
DMDM Disease mutations6339
Blocks (Seattle)P51172
Human Protein AtlasENSG00000162572
Peptide AtlasP51172
HPRD03209
IPIIPI00514599   IPI00334783   IPI00441997   IPI01022053   IPI01021234   IPI01018980   IPI00514605   
Protein Interaction databases
DIP (DOE-UCLA)P51172
IntAct (EBI)P51172
FunCoupENSG00000162572
BioGRIDSCNN1D
InParanoidP51172
Interologous Interaction database P51172
IntegromeDBSCNN1D
STRING (EMBL)SCNN1D
Ontologies - Pathways
Ontology : AmiGOprotein binding  plasma membrane  plasma membrane  sodium ion transport  ligand-gated sodium channel activity  actin cytoskeleton  membrane  integral component of membrane  ion transmembrane transport  sodium ion transmembrane transport  sodium ion transmembrane transport  response to stimulus  sensory perception of taste  transmembrane transport  
Ontology : EGO-EBIprotein binding  plasma membrane  plasma membrane  sodium ion transport  ligand-gated sodium channel activity  actin cytoskeleton  membrane  integral component of membrane  ion transmembrane transport  sodium ion transmembrane transport  sodium ion transmembrane transport  response to stimulus  sensory perception of taste  transmembrane transport  
Protein Interaction DatabaseSCNN1D
Wikipedia pathwaysSCNN1D
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SCNN1D
SNP (GeneSNP Utah)SCNN1D
SNP : HGBaseSCNN1D
Genetic variants : HAPMAPSCNN1D
1000_GenomesSCNN1D 
ICGC programENSG00000162572 
CONAN: Copy Number AnalysisSCNN1D 
Somatic Mutations in Cancer : COSMICSCNN1D 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Mutations and Diseases : HGMDSCNN1D
OMIM601328   
MedgenSCNN1D
GENETestsSCNN1D
Disease Genetic AssociationSCNN1D
Huge Navigator SCNN1D [HugePedia]  SCNN1D [HugeCancerGEM]
Genomic VariantsSCNN1D  SCNN1D [DGVbeta]
Exome VariantSCNN1D
dbVarSCNN1D
ClinVarSCNN1D
snp3D : Map Gene to Disease6339
General knowledge
Homologs : HomoloGeneSCNN1D
Homology/Alignments : Family Browser (UCSC)SCNN1D
Phylogenetic Trees/Animal Genes : TreeFamSCNN1D
Chemical/Protein Interactions : CTD6339
Chemical/Pharm GKB GenePA35011
Clinical trialSCNN1D
Cancer Resource (Charite)ENSG00000162572
Other databases
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
CoreMineSCNN1D
iHOPSCNN1D
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 13:15:10 CEST 2014

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