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SCN3A (sodium channel, voltage gated, type III alpha subunit)

Identity

Alias_namessodium channel, voltage-gated, type III, alpha polypeptide
sodium channel, voltage-gated, type III, alpha subunit
sodium channel, voltage gated, type III alpha subunit
Alias_symbol (synonym)Nav1.3
Other aliasNAC3
HGNC (Hugo) SCN3A
LocusID (NCBI) 6328
Atlas_Id 73048
Location 2q24.3  [Link to chromosome band 2q24]
Location_base_pair Starts at 165944030 and ends at 166060577 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CALM3 (19q13.32) / SCN3A (2q24.3)COBLL1 (2q24.3) / SCN3A (2q24.3)STK39 (2q24.3) / SCN3A (2q24.3)
STK39 SCN3ACOBLL1 SCN3A

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)SCN3A   10590
Cards
Entrez_Gene (NCBI)SCN3A  6328  sodium channel, voltage gated, type III alpha subunit
AliasesNAC3; Nav1.3
GeneCards (Weizmann)SCN3A
Ensembl hg19 (Hinxton)ENSG00000153253 [Gene_View]  chr2:165944030-166060577 [Contig_View]  SCN3A [Vega]
Ensembl hg38 (Hinxton)ENSG00000153253 [Gene_View]  chr2:165944030-166060577 [Contig_View]  SCN3A [Vega]
ICGC DataPortalENSG00000153253
TCGA cBioPortalSCN3A
AceView (NCBI)SCN3A
Genatlas (Paris)SCN3A
WikiGenes6328
SOURCE (Princeton)SCN3A
Genetics Home Reference (NIH)SCN3A
Genomic and cartography
GoldenPath hg19 (UCSC)SCN3A  -     chr2:165944030-166060577 -  2q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SCN3A  -     2q24.3   [Description]    (hg38-Dec_2013)
EnsemblSCN3A - 2q24.3 [CytoView hg19]  SCN3A - 2q24.3 [CytoView hg38]
Mapping of homologs : NCBISCN3A [Mapview hg19]  SCN3A [Mapview hg38]
OMIM182391   
Gene and transcription
Genbank (Entrez)AB037777 AF035685 AF035686 AF225986 AF225987
RefSeq transcript (Entrez)NM_001081676 NM_001081677 NM_006922
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)SCN3A
Cluster EST : UnigeneHs.435274 [ NCBI ]
CGAP (NCI)Hs.435274
Alternative Splicing GalleryENSG00000153253
Gene ExpressionSCN3A [ NCBI-GEO ]   SCN3A [ EBI - ARRAY_EXPRESS ]   SCN3A [ SEEK ]   SCN3A [ MEM ]
Gene Expression Viewer (FireBrowse)SCN3A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6328
GTEX Portal (Tissue expression)SCN3A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NY46   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NY46  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NY46
Splice isoforms : SwissVarQ9NY46
PhosPhoSitePlusQ9NY46
Domaine pattern : Prosite (Expaxy)IQ (PS50096)   
Domains : Interpro (EBI)Channel_four-helix_dom    DUF3451    Ion_trans_dom    IQ_motif_EF-hand-BS    Na_channel_a3su    Na_channel_asu    Na_trans_assoc   
Domain families : Pfam (Sanger)DUF3451 (PF11933)    Ion_trans (PF00520)    Na_trans_assoc (PF06512)   
Domain families : Pfam (NCBI)pfam11933    pfam00520    pfam06512   
Domain families : Smart (EMBL)IQ (SM00015)  
Conserved Domain (NCBI)SCN3A
DMDM Disease mutations6328
Blocks (Seattle)SCN3A
SuperfamilyQ9NY46
Human Protein AtlasENSG00000153253
Peptide AtlasQ9NY46
HPRD01671
IPIIPI00020692   IPI00218521   IPI00218522   IPI00397861   IPI01018959   IPI00935158   
Protein Interaction databases
DIP (DOE-UCLA)Q9NY46
IntAct (EBI)Q9NY46
FunCoupENSG00000153253
BioGRIDSCN3A
STRING (EMBL)SCN3A
ZODIACSCN3A
Ontologies - Pathways
QuickGOQ9NY46
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel activity  voltage-gated sodium channel activity  cytoplasm  plasma membrane  sodium ion transport  neuronal action potential  regulation of ion transmembrane transport  sodium ion transmembrane transport  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel activity  voltage-gated sodium channel activity  cytoplasm  plasma membrane  sodium ion transport  neuronal action potential  regulation of ion transmembrane transport  sodium ion transmembrane transport  membrane depolarization during action potential  
NDEx NetworkSCN3A
Atlas of Cancer Signalling NetworkSCN3A
Wikipedia pathwaysSCN3A
Orthology - Evolution
OrthoDB6328
GeneTree (enSembl)ENSG00000153253
Phylogenetic Trees/Animal Genes : TreeFamSCN3A
HOVERGENQ9NY46
HOGENOMQ9NY46
Homologs : HomoloGeneSCN3A
Homology/Alignments : Family Browser (UCSC)SCN3A
Gene fusions - Rearrangements
Fusion: TCGASTK39 SCN3A
Fusion: TCGACOBLL1 SCN3A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCN3A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCN3A
dbVarSCN3A
ClinVarSCN3A
1000_GenomesSCN3A 
Exome Variant ServerSCN3A
ExAC (Exome Aggregation Consortium)SCN3A (select the gene name)
Genetic variants : HAPMAP6328
Genomic Variants (DGV)SCN3A [DGVbeta]
DECIPHER (Syndromes)2:165944030-166060577  ENSG00000153253
CONAN: Copy Number AnalysisSCN3A 
Mutations
ICGC Data PortalSCN3A 
TCGA Data PortalSCN3A 
Broad Tumor PortalSCN3A
OASIS PortalSCN3A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCN3A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCN3A
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 SCN3A
DgiDB (Drug Gene Interaction Database)SCN3A
DoCM (Curated mutations)SCN3A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCN3A (select a term)
intoGenSCN3A
Cancer3DSCN3A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182391   
Orphanet
MedgenSCN3A
Genetic Testing Registry SCN3A
NextProtQ9NY46 [Medical]
TSGene6328
GENETestsSCN3A
Huge Navigator SCN3A [HugePedia]
snp3D : Map Gene to Disease6328
BioCentury BCIQSCN3A
ClinGenSCN3A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6328
Chemical/Pharm GKB GenePA35005
Clinical trialSCN3A
Miscellaneous
canSAR (ICR)SCN3A (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCN3A
EVEXSCN3A
GoPubMedSCN3A
iHOPSCN3A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:42:33 CET 2017

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