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SCN8A (sodium voltage-gated channel alpha subunit 8)

Identity

Alias_namesMED
sodium channel, voltage gated, type VIII, alpha polypeptide
sodium channel, voltage gated, type VIII, alpha subunit
sodium channel, voltage gated, type VIII alpha subunit
Alias_symbol (synonym)Nav1.6
NaCh6
PN4
CerIII
CIAT
Other aliasBFIS5
CERIII
EIEE13
MYOCL2
HGNC (Hugo) SCN8A
LocusID (NCBI) 6334
Atlas_Id 50930
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 51591236 and ends at 51812864 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)
NUCB1 (19q13.33) / SCN8A (12q13.13)SCN8A (12q13.13) / MALAT1 (11q13.1)

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)SCN8A   10596
Cards
Entrez_Gene (NCBI)SCN8A  6334  sodium voltage-gated channel alpha subunit 8
AliasesBFIS5; CERIII; CIAT; EIEE13; 
MED; MYOCL2; NaCh6; Nav1.6; PN4
GeneCards (Weizmann)SCN8A
Ensembl hg19 (Hinxton)ENSG00000196876 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196876 [Gene_View]  ENSG00000196876 [Sequence]  chr12:51591236-51812864 [Contig_View]  SCN8A [Vega]
ICGC DataPortalENSG00000196876
TCGA cBioPortalSCN8A
AceView (NCBI)SCN8A
Genatlas (Paris)SCN8A
WikiGenes6334
SOURCE (Princeton)SCN8A
Genetics Home Reference (NIH)SCN8A
Genomic and cartography
GoldenPath hg38 (UCSC)SCN8A  -     chr12:51591236-51812864 +  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCN8A  -     12q13.13   [Description]    (hg19-Feb_2009)
GoldenPathSCN8A - 12q13.13 [CytoView hg19]  SCN8A - 12q13.13 [CytoView hg38]
ImmunoBaseENSG00000196876
Mapping of homologs : NCBISCN8A [Mapview hg19]  SCN8A [Mapview hg38]
OMIM600702   614306   614558   617080   618364   
Gene and transcription
Genbank (Entrez)AB027567 AF225988 AJ276141 AJ276142 AJ277395
RefSeq transcript (Entrez)NM_001177984 NM_001330260 NM_001369788 NM_014191 NM_175894
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCN8A
Cluster EST : UnigeneHs.710638 [ NCBI ]
CGAP (NCI)Hs.710638
Alternative Splicing GalleryENSG00000196876
Gene ExpressionSCN8A [ NCBI-GEO ]   SCN8A [ EBI - ARRAY_EXPRESS ]   SCN8A [ SEEK ]   SCN8A [ MEM ]
Gene Expression Viewer (FireBrowse)SCN8A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6334
GTEX Portal (Tissue expression)SCN8A
Human Protein AtlasENSG00000196876-SCN8A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQD0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQD0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQD0
Splice isoforms : SwissVarQ9UQD0
PhosPhoSitePlusQ9UQD0
Domaine pattern : Prosite (Expaxy)IQ (PS50096)   
Domains : Interpro (EBI)Ion_trans_dom    IQ_motif_EF-hand-BS    Na_channel_a8su    Na_channel_asu    Na_trans_assoc    Na_trans_cytopl    Volt_channel_dom_sf   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    IQ (PF00612)    Na_trans_assoc (PF06512)    Na_trans_cytopl (PF11933)   
Domain families : Pfam (NCBI)pfam00520    pfam00612    pfam06512    pfam11933   
Domain families : Smart (EMBL)IQ (SM00015)  
Conserved Domain (NCBI)SCN8A
DMDM Disease mutations6334
Blocks (Seattle)SCN8A
SuperfamilyQ9UQD0
Human Protein Atlas [tissue]ENSG00000196876-SCN8A [tissue]
Peptide AtlasQ9UQD0
HPRD09006
IPIIPI00183041   IPI00337743   IPI00337744   IPI00337745   IPI00954952   IPI01022747   IPI01022860   IPI01025206   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQD0
IntAct (EBI)Q9UQD0
FunCoupENSG00000196876
BioGRIDSCN8A
STRING (EMBL)SCN8A
ZODIACSCN8A
Ontologies - Pathways
QuickGOQ9UQD0
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel complex  voltage-gated ion channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  protein binding  ATP binding  plasma membrane  sodium ion transport  nervous system development  peripheral nervous system development  integral component of membrane  neuronal action potential  Z disc  axon  cytoplasmic vesicle  node of Ranvier  regulation of ion transmembrane transport  sodium ion transmembrane transport  myelination  axon initial segment  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel complex  voltage-gated ion channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  protein binding  ATP binding  plasma membrane  sodium ion transport  nervous system development  peripheral nervous system development  integral component of membrane  neuronal action potential  Z disc  axon  cytoplasmic vesicle  node of Ranvier  regulation of ion transmembrane transport  sodium ion transmembrane transport  myelination  axon initial segment  membrane depolarization during action potential  
NDEx NetworkSCN8A
Atlas of Cancer Signalling NetworkSCN8A
Wikipedia pathwaysSCN8A
Orthology - Evolution
OrthoDB6334
GeneTree (enSembl)ENSG00000196876
Phylogenetic Trees/Animal Genes : TreeFamSCN8A
HOGENOMQ9UQD0
Homologs : HomoloGeneSCN8A
Homology/Alignments : Family Browser (UCSC)SCN8A
Gene fusions - Rearrangements
Fusion : QuiverSCN8A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCN8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCN8A
dbVarSCN8A
ClinVarSCN8A
1000_GenomesSCN8A 
Exome Variant ServerSCN8A
ExAC (Exome Aggregation Consortium)ENSG00000196876
GNOMAD BrowserENSG00000196876
Varsome BrowserSCN8A
Genetic variants : HAPMAP6334
Genomic Variants (DGV)SCN8A [DGVbeta]
DECIPHERSCN8A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCN8A 
Mutations
ICGC Data PortalSCN8A 
TCGA Data PortalSCN8A 
Broad Tumor PortalSCN8A
OASIS PortalSCN8A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCN8A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSCN8A
Mutations and Diseases : HGMDSCN8A
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SCN8A
DgiDB (Drug Gene Interaction Database)SCN8A
DoCM (Curated mutations)SCN8A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCN8A (select a term)
intoGenSCN8A
Cancer3DSCN8A(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600702    614306    614558    617080    618364   
Orphanet3651    23427    9793   
DisGeNETSCN8A
MedgenSCN8A
Genetic Testing Registry SCN8A
NextProtQ9UQD0 [Medical]
TSGene6334
GENETestsSCN8A
Target ValidationSCN8A
Huge Navigator SCN8A [HugePedia]
snp3D : Map Gene to Disease6334
BioCentury BCIQSCN8A
ClinGenSCN8A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6334
Chemical/Pharm GKB GenePA35009
Clinical trialSCN8A
Miscellaneous
canSAR (ICR)SCN8A (select the gene name)
DataMed IndexSCN8A
Probes
Litterature
PubMed63 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCN8A
EVEXSCN8A
GoPubMedSCN8A
iHOPSCN8A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 18:06:25 CET 2019
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