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SCN4A (sodium voltage-gated channel alpha subunit 4)

Identity

Alias_namesHYKPP
sodium channel, voltage-gated, type IV, alpha subunit
sodium channel, voltage gated, type IV alpha subunit
Alias_symbol (synonym)Nav1.4
HYPP
SkM1
Other aliasCMS16
HOKPP2
NAC1A
Na(V)1.4
HGNC (Hugo) SCN4A
LocusID (NCBI) 6329
Atlas_Id 54922
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63938554 and ends at 63972918 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FTSJ3 (17q23.3) / SCN4A (17q23.3)SCN4A (17q23.3) / SCN4A (17q23.3)SCN4A (17q23.3) / TRIM47 (17q25.1)
FTSJ3 17q23.3 / SCN4A 17q23.3SCN4A 17q23.3 / TRIM47 17q25.1

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)SCN4A   10591
Cards
Entrez_Gene (NCBI)SCN4A  6329  sodium voltage-gated channel alpha subunit 4
AliasesCMS16; HOKPP2; HYKPP; HYPP; 
NAC1A; Na(V)1.4; Nav1.4; SkM1
GeneCards (Weizmann)SCN4A
Ensembl hg19 (Hinxton)ENSG00000007314 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000007314 [Gene_View]  chr17:63938554-63972918 [Contig_View]  SCN4A [Vega]
ICGC DataPortalENSG00000007314
TCGA cBioPortalSCN4A
AceView (NCBI)SCN4A
Genatlas (Paris)SCN4A
WikiGenes6329
SOURCE (Princeton)SCN4A
Genetics Home Reference (NIH)SCN4A
Genomic and cartography
GoldenPath hg38 (UCSC)SCN4A  -     chr17:63938554-63972918 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCN4A  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblSCN4A - 17q23.3 [CytoView hg19]  SCN4A - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBISCN4A [Mapview hg19]  SCN4A [Mapview hg38]
OMIM168300   170400   170500   603967   608390   613345   614198   
Gene and transcription
Genbank (Entrez)AY212253 BC172375 M81758
RefSeq transcript (Entrez)NM_000334
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCN4A
Cluster EST : UnigeneHs.46038 [ NCBI ]
CGAP (NCI)Hs.46038
Alternative Splicing GalleryENSG00000007314
Gene ExpressionSCN4A [ NCBI-GEO ]   SCN4A [ EBI - ARRAY_EXPRESS ]   SCN4A [ SEEK ]   SCN4A [ MEM ]
Gene Expression Viewer (FireBrowse)SCN4A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6329
GTEX Portal (Tissue expression)SCN4A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35499   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35499  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35499
Splice isoforms : SwissVarP35499
PhosPhoSitePlusP35499
Domaine pattern : Prosite (Expaxy)IQ (PS50096)   
Domains : Interpro (EBI)Channel_four-helix_dom    Ion_trans_dom    IQ_motif_EF-hand-BS    Na_channel_a4su_mammal    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)SCN4A
DMDM Disease mutations6329
Blocks (Seattle)SCN4A
SuperfamilyP35499
Human Protein AtlasENSG00000007314
Peptide AtlasP35499
HPRD04912
IPIIPI00292393   
Protein Interaction databases
DIP (DOE-UCLA)P35499
IntAct (EBI)P35499
FunCoupENSG00000007314
BioGRIDSCN4A
STRING (EMBL)SCN4A
ZODIACSCN4A
Ontologies - Pathways
QuickGOP35499
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel activity  integral component of plasma membrane  sodium ion transport  muscle contraction  neuronal action potential  regulation of ion transmembrane transport  sodium ion transmembrane transport  regulation of postsynaptic membrane potential  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel activity  integral component of plasma membrane  sodium ion transport  muscle contraction  neuronal action potential  regulation of ion transmembrane transport  sodium ion transmembrane transport  regulation of postsynaptic membrane potential  membrane depolarization during action potential  
NDEx NetworkSCN4A
Atlas of Cancer Signalling NetworkSCN4A
Wikipedia pathwaysSCN4A
Orthology - Evolution
OrthoDB6329
GeneTree (enSembl)ENSG00000007314
Phylogenetic Trees/Animal Genes : TreeFamSCN4A
HOVERGENP35499
HOGENOMP35499
Homologs : HomoloGeneSCN4A
Homology/Alignments : Family Browser (UCSC)SCN4A
Gene fusions - Rearrangements
Fusion : MitelmanFTSJ3/SCN4A [17q23.3/17q23.3]  [t(17;17)(q23;q23)]  
Fusion : MitelmanSCN4A/TRIM47 [17q23.3/17q25.1]  [t(17;17)(q23;q25)]  
Fusion: TCGAFTSJ3 17q23.3 SCN4A 17q23.3 BRCA
Fusion: TCGASCN4A 17q23.3 TRIM47 17q25.1 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCN4A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCN4A
dbVarSCN4A
ClinVarSCN4A
1000_GenomesSCN4A 
Exome Variant ServerSCN4A
ExAC (Exome Aggregation Consortium)SCN4A (select the gene name)
Genetic variants : HAPMAP6329
Genomic Variants (DGV)SCN4A [DGVbeta]
DECIPHERSCN4A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCN4A 
Mutations
ICGC Data PortalSCN4A 
TCGA Data PortalSCN4A 
Broad Tumor PortalSCN4A
OASIS PortalSCN4A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCN4A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCN4A
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 SCN4A
DgiDB (Drug Gene Interaction Database)SCN4A
DoCM (Curated mutations)SCN4A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCN4A (select a term)
intoGenSCN4A
Cancer3DSCN4A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM168300    170400    170500    603967    608390    613345    614198   
Orphanet76    212    211    14307    14308    14309    13930   
MedgenSCN4A
Genetic Testing Registry SCN4A
NextProtP35499 [Medical]
TSGene6329
GENETestsSCN4A
Target ValidationSCN4A
Huge Navigator SCN4A [HugePedia]
snp3D : Map Gene to Disease6329
BioCentury BCIQSCN4A
ClinGenSCN4A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6329
Chemical/Pharm GKB GenePA35006
Clinical trialSCN4A
Miscellaneous
canSAR (ICR)SCN4A (select the gene name)
Probes
Litterature
PubMed115 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCN4A
EVEXSCN4A
GoPubMedSCN4A
iHOPSCN4A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:13:51 CEST 2017

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