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SCN11A (sodium voltage-gated channel alpha subunit 11)

Identity

Alias_namesSCN12A
sodium channel, voltage-gated, type XI, alpha polypeptide
sodium channel, voltage-gated, type XII, alpha
sodium channel, voltage-gated, type XI, alpha subunit
sodium channel, voltage gated, type XI alpha subunit
Alias_symbol (synonym)Nav1.9
NaN
SNS-2
Other aliasFEPS3
HSAN7
NAV1.9
PN5
HGNC (Hugo) SCN11A
LocusID (NCBI) 11280
Atlas_Id 73044
Location 3p22.2  [Link to chromosome band 3p22]
Location_base_pair Starts at 38845769 and ends at 38953651 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CGGBP1 (3p11.1) / SCN11A (3p22.2)DVL3 (3q27.1) / SCN11A (3p22.2)SCN11A (3p22.2) / LOC389831 ()
SCN11A (3p22.2) / ZCCHC14 (16q24.2)

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)SCN11A   10583
Cards
Entrez_Gene (NCBI)SCN11A  11280  sodium voltage-gated channel alpha subunit 11
AliasesFEPS3; HSAN7; NAV1.9; NaN; 
PN5; SCN12A; SNS-2
GeneCards (Weizmann)SCN11A
Ensembl hg19 (Hinxton)ENSG00000168356 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168356 [Gene_View]  chr3:38845769-38953651 [Contig_View]  SCN11A [Vega]
ICGC DataPortalENSG00000168356
TCGA cBioPortalSCN11A
AceView (NCBI)SCN11A
Genatlas (Paris)SCN11A
WikiGenes11280
SOURCE (Princeton)SCN11A
Genetics Home Reference (NIH)SCN11A
Genomic and cartography
GoldenPath hg38 (UCSC)SCN11A  -     chr3:38845769-38953651 -  3p22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCN11A  -     3p22.2   [Description]    (hg19-Feb_2009)
EnsemblSCN11A - 3p22.2 [CytoView hg19]  SCN11A - 3p22.2 [CytoView hg38]
Mapping of homologs : NCBISCN11A [Mapview hg19]  SCN11A [Mapview hg38]
OMIM604385   615548   615552   
Gene and transcription
Genbank (Entrez)AF109737 AF150882 AF188679 AJ417790 AY686224
RefSeq transcript (Entrez)NM_001287223 NM_001349253 NM_014139
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCN11A
Cluster EST : UnigeneHs.591657 [ NCBI ]
CGAP (NCI)Hs.591657
Alternative Splicing GalleryENSG00000168356
Gene ExpressionSCN11A [ NCBI-GEO ]   SCN11A [ EBI - ARRAY_EXPRESS ]   SCN11A [ SEEK ]   SCN11A [ MEM ]
Gene Expression Viewer (FireBrowse)SCN11A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11280
GTEX Portal (Tissue expression)SCN11A
Human Protein AtlasENSG00000168356-SCN11A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UI33   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UI33  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UI33
Splice isoforms : SwissVarQ9UI33
PhosPhoSitePlusQ9UI33
Domains : Interpro (EBI)Channel_four-helix_dom    Ion_trans_dom    Na_channel_a11su    Na_channel_asu    Na_trans_assoc   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    Na_trans_assoc (PF06512)   
Domain families : Pfam (NCBI)pfam00520    pfam06512   
Conserved Domain (NCBI)SCN11A
DMDM Disease mutations11280
Blocks (Seattle)SCN11A
SuperfamilyQ9UI33
Human Protein Atlas [tissue]ENSG00000168356-SCN11A [tissue]
Peptide AtlasQ9UI33
HPRD05090
IPIIPI00296063   IPI00513973   IPI00514134   
Protein Interaction databases
DIP (DOE-UCLA)Q9UI33
IntAct (EBI)Q9UI33
FunCoupENSG00000168356
BioGRIDSCN11A
STRING (EMBL)SCN11A
ZODIACSCN11A
Ontologies - Pathways
QuickGOQ9UI33
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel activity  plasma membrane  sodium ion transport  neuronal action potential  regulation of ion transmembrane transport  sodium ion transmembrane transport  response to drug  regulation of sensory perception of pain  regulation of postsynaptic membrane potential  extracellular exosome  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel activity  plasma membrane  sodium ion transport  neuronal action potential  regulation of ion transmembrane transport  sodium ion transmembrane transport  response to drug  regulation of sensory perception of pain  regulation of postsynaptic membrane potential  extracellular exosome  membrane depolarization during action potential  
NDEx NetworkSCN11A
Atlas of Cancer Signalling NetworkSCN11A
Wikipedia pathwaysSCN11A
Orthology - Evolution
OrthoDB11280
GeneTree (enSembl)ENSG00000168356
Phylogenetic Trees/Animal Genes : TreeFamSCN11A
HOVERGENQ9UI33
HOGENOMQ9UI33
Homologs : HomoloGeneSCN11A
Homology/Alignments : Family Browser (UCSC)SCN11A
Gene fusions - Rearrangements
Tumor Fusion PortalSCN11A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCN11A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCN11A
dbVarSCN11A
ClinVarSCN11A
1000_GenomesSCN11A 
Exome Variant ServerSCN11A
ExAC (Exome Aggregation Consortium)ENSG00000168356
GNOMAD BrowserENSG00000168356
Genetic variants : HAPMAP11280
Genomic Variants (DGV)SCN11A [DGVbeta]
DECIPHERSCN11A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCN11A 
Mutations
ICGC Data PortalSCN11A 
TCGA Data PortalSCN11A 
Broad Tumor PortalSCN11A
OASIS PortalSCN11A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCN11A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCN11A
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
BioMutasearch SCN11A
DgiDB (Drug Gene Interaction Database)SCN11A
DoCM (Curated mutations)SCN11A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCN11A (select a term)
intoGenSCN11A
Cancer3DSCN11A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604385    615548    615552   
Orphanet21236    22617    22618    10594    11928    11818   
DisGeNETSCN11A
MedgenSCN11A
Genetic Testing Registry SCN11A
NextProtQ9UI33 [Medical]
TSGene11280
GENETestsSCN11A
Target ValidationSCN11A
Huge Navigator SCN11A [HugePedia]
snp3D : Map Gene to Disease11280
BioCentury BCIQSCN11A
ClinGenSCN11A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11280
Chemical/Pharm GKB GenePA35001
Clinical trialSCN11A
Miscellaneous
canSAR (ICR)SCN11A (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCN11A
EVEXSCN11A
GoPubMedSCN11A
iHOPSCN11A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:08:56 CET 2017

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