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SCN2A (sodium voltage-gated channel alpha subunit 2)

Identity

Alias_namesSCN2A1
SCN2A2
sodium channel, voltage-gated, type II, alpha 2 polypeptide
sodium channel, voltage-gated, type II, alpha 1 polypeptide
sodium channel, voltage-gated, type II, alpha subunit
sodium channel, voltage gated, type II alpha subunit
Alias_symbol (synonym)Nav1.2
HBSCII
HBSCI
Other aliasBFIC3
BFIS3
BFNIS
EIEE11
HBA
NAC2
Na(v)1.2
HGNC (Hugo) SCN2A
LocusID (NCBI) 6326
Atlas_Id 56568
Location 2q24.3  [Link to chromosome band 2q24]
Location_base_pair Starts at 165239402 and ends at 165392310 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CKB (14q32.32) / SCN2A (2q24.3)DMTN (8p21.3) / SCN2A (2q24.3)SCN2A (2q24.3) / ADD3 (10q25.1)
SCN2A (2q24.3) / KDM2B (12q24.31)SCN2A (2q24.3) / NIT1 (1q23.3)

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)SCN2A   10588
Cards
Entrez_Gene (NCBI)SCN2A  6326  sodium voltage-gated channel alpha subunit 2
AliasesBFIC3; BFIS3; BFNIS; EIEE11; 
HBA; HBSCI; HBSCII; NAC2; Na(v)1.2; Nav1.2; SCN2A1; SCN2A2
GeneCards (Weizmann)SCN2A
Ensembl hg19 (Hinxton)ENSG00000136531 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136531 [Gene_View]  chr2:165239402-165392310 [Contig_View]  SCN2A [Vega]
ICGC DataPortalENSG00000136531
TCGA cBioPortalSCN2A
AceView (NCBI)SCN2A
Genatlas (Paris)SCN2A
WikiGenes6326
SOURCE (Princeton)SCN2A
Genetics Home Reference (NIH)SCN2A
Genomic and cartography
GoldenPath hg38 (UCSC)SCN2A  -     chr2:165239402-165392310 +  2q24.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCN2A  -     2q24.3   [Description]    (hg19-Feb_2009)
EnsemblSCN2A - 2q24.3 [CytoView hg19]  SCN2A - 2q24.3 [CytoView hg38]
Mapping of homologs : NCBISCN2A [Mapview hg19]  SCN2A [Mapview hg38]
OMIM182390   607745   613721   
Gene and transcription
Genbank (Entrez)AB208888 AK289656 AL137498 BC029489 BC047398
RefSeq transcript (Entrez)NM_001040142 NM_001040143 NM_021007
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCN2A
Cluster EST : UnigeneHs.93485 [ NCBI ]
CGAP (NCI)Hs.93485
Alternative Splicing GalleryENSG00000136531
Gene ExpressionSCN2A [ NCBI-GEO ]   SCN2A [ EBI - ARRAY_EXPRESS ]   SCN2A [ SEEK ]   SCN2A [ MEM ]
Gene Expression Viewer (FireBrowse)SCN2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6326
GTEX Portal (Tissue expression)SCN2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99250   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99250  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99250
Splice isoforms : SwissVarQ99250
PhosPhoSitePlusQ99250
Domaine pattern : Prosite (Expaxy)IQ (PS50096)   
Domains : Interpro (EBI)Channel_four-helix_dom    Ion_trans_dom    IQ_motif_EF-hand-BS    Na_channel_asu    Na_trans_assoc    Na_trans_cytopl   
Domain families : Pfam (Sanger)Ion_trans (PF00520)    Na_trans_assoc (PF06512)    Na_trans_cytopl (PF11933)   
Domain families : Pfam (NCBI)pfam00520    pfam06512    pfam11933   
Domain families : Smart (EMBL)IQ (SM00015)  
Conserved Domain (NCBI)SCN2A
DMDM Disease mutations6326
Blocks (Seattle)SCN2A
PDB (SRS)2KAV    4JPZ   
PDB (PDBSum)2KAV    4JPZ   
PDB (IMB)2KAV    4JPZ   
PDB (RSDB)2KAV    4JPZ   
Structural Biology KnowledgeBase2KAV    4JPZ   
SCOP (Structural Classification of Proteins)2KAV    4JPZ   
CATH (Classification of proteins structures)2KAV    4JPZ   
SuperfamilyQ99250
Human Protein AtlasENSG00000136531
Peptide AtlasQ99250
HPRD03133
IPIIPI00305036   IPI00220666   IPI00917060   
Protein Interaction databases
DIP (DOE-UCLA)Q99250
IntAct (EBI)Q99250
FunCoupENSG00000136531
BioGRIDSCN2A
STRING (EMBL)SCN2A
ZODIACSCN2A
Ontologies - Pathways
QuickGOQ99250
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  intracellular  integral component of plasma membrane  sodium ion transport  intrinsic apoptotic signaling pathway in response to osmotic stress  intercalated disc  neuronal action potential  T-tubule  axon  intrinsic component of plasma membrane  node of Ranvier  paranode region of axon  sodium channel complex  regulation of ion transmembrane transport  sodium ion transmembrane transport  myelination  neuron apoptotic process  regulation of postsynaptic membrane potential  membrane depolarization during action potential  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel activity  voltage-gated sodium channel activity  voltage-gated sodium channel activity  intracellular  integral component of plasma membrane  sodium ion transport  intrinsic apoptotic signaling pathway in response to osmotic stress  intercalated disc  neuronal action potential  T-tubule  axon  intrinsic component of plasma membrane  node of Ranvier  paranode region of axon  sodium channel complex  regulation of ion transmembrane transport  sodium ion transmembrane transport  myelination  neuron apoptotic process  regulation of postsynaptic membrane potential  membrane depolarization during action potential  
NDEx NetworkSCN2A
Atlas of Cancer Signalling NetworkSCN2A
Wikipedia pathwaysSCN2A
Orthology - Evolution
OrthoDB6326
GeneTree (enSembl)ENSG00000136531
Phylogenetic Trees/Animal Genes : TreeFamSCN2A
HOVERGENQ99250
HOGENOMQ99250
Homologs : HomoloGeneSCN2A
Homology/Alignments : Family Browser (UCSC)SCN2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCN2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCN2A
dbVarSCN2A
ClinVarSCN2A
1000_GenomesSCN2A 
Exome Variant ServerSCN2A
ExAC (Exome Aggregation Consortium)SCN2A (select the gene name)
Genetic variants : HAPMAP6326
Genomic Variants (DGV)SCN2A [DGVbeta]
DECIPHERSCN2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCN2A 
Mutations
ICGC Data PortalSCN2A 
TCGA Data PortalSCN2A 
Broad Tumor PortalSCN2A
OASIS PortalSCN2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCN2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCN2A
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch SCN2A
DgiDB (Drug Gene Interaction Database)SCN2A
DoCM (Curated mutations)SCN2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCN2A (select a term)
intoGenSCN2A
Cancer3DSCN2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182390    607745    613721   
Orphanet889    894    17000    3651    10424    10307   
MedgenSCN2A
Genetic Testing Registry SCN2A
NextProtQ99250 [Medical]
TSGene6326
GENETestsSCN2A
Target ValidationSCN2A
Huge Navigator SCN2A [HugePedia]
snp3D : Map Gene to Disease6326
BioCentury BCIQSCN2A
ClinGenSCN2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6326
Chemical/Pharm GKB GenePA35004
Clinical trialSCN2A
Miscellaneous
canSAR (ICR)SCN2A (select the gene name)
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCN2A
EVEXSCN2A
GoPubMedSCN2A
iHOPSCN2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:54:35 CEST 2017

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