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SCN1B (sodium voltage-gated channel beta subunit 1)

Identity

Alias_namessodium channel, voltage-gated, type I, beta polypeptide
sodium channel, voltage-gated, type I, beta
sodium channel, voltage-gated, type I, beta subunit
sodium channel, voltage gated, type I beta subunit
Other aliasATFB13
BRGDA5
EIEE52
GEFSP1
HGNC (Hugo) SCN1B
LocusID (NCBI) 6324
Atlas_Id 54992
Location 19q13.11  [Link to chromosome band 19q13]
Location_base_pair Starts at 35030688 and ends at 35040449 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LSR (19q13.12) / SCN1B (19q13.12)PPP2R5C (14q32.31) / SCN1B (19q13.12)PPP2R5C 14q32.31 / SCN1B 19q13.12

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)SCN1B   10586
LRG (Locus Reference Genomic)LRG_420
Cards
Entrez_Gene (NCBI)SCN1B  6324  sodium voltage-gated channel beta subunit 1
AliasesATFB13; BRGDA5; EIEE52; GEFSP1
GeneCards (Weizmann)SCN1B
Ensembl hg19 (Hinxton)ENSG00000105711 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105711 [Gene_View]  chr19:35030688-35040449 [Contig_View]  SCN1B [Vega]
ICGC DataPortalENSG00000105711
TCGA cBioPortalSCN1B
AceView (NCBI)SCN1B
Genatlas (Paris)SCN1B
WikiGenes6324
SOURCE (Princeton)SCN1B
Genetics Home Reference (NIH)SCN1B
Genomic and cartography
GoldenPath hg38 (UCSC)SCN1B  -     chr19:35030688-35040449 +  19q13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SCN1B  -     19q13.11   [Description]    (hg19-Feb_2009)
EnsemblSCN1B - 19q13.11 [CytoView hg19]  SCN1B - 19q13.11 [CytoView hg38]
Mapping of homologs : NCBISCN1B [Mapview hg19]  SCN1B [Mapview hg38]
OMIM600235   604233   612838   615377   617350   
Gene and transcription
Genbank (Entrez)AK295477 AK313279 AY391842 BC021266 BC030193
RefSeq transcript (Entrez)NM_001037 NM_001321605 NM_199037
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SCN1B
Cluster EST : UnigeneHs.436646 [ NCBI ]
CGAP (NCI)Hs.436646
Alternative Splicing GalleryENSG00000105711
Gene ExpressionSCN1B [ NCBI-GEO ]   SCN1B [ EBI - ARRAY_EXPRESS ]   SCN1B [ SEEK ]   SCN1B [ MEM ]
Gene Expression Viewer (FireBrowse)SCN1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6324
GTEX Portal (Tissue expression)SCN1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ07699   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ07699  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ07699
Splice isoforms : SwissVarQ07699
PhosPhoSitePlusQ07699
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_V-set    Na_channel_b1/b3   
Domain families : Pfam (Sanger)V-set (PF07686)   
Domain families : Pfam (NCBI)pfam07686   
Conserved Domain (NCBI)SCN1B
DMDM Disease mutations6324
Blocks (Seattle)SCN1B
SuperfamilyQ07699
Human Protein AtlasENSG00000105711
Peptide AtlasQ07699
HPRD02581
IPIIPI00018980   IPI00395428   
Protein Interaction databases
DIP (DOE-UCLA)Q07699
IntAct (EBI)Q07699
FunCoupENSG00000105711
BioGRIDSCN1B
STRING (EMBL)SCN1B
ZODIACSCN1B
Ontologies - Pathways
QuickGOQ07699
Ontology : AmiGOvoltage-gated sodium channel complex  voltage-gated sodium channel activity  protein binding  extracellular region  plasma membrane  cell adhesion  chemical synaptic transmission  axon guidance  positive regulation of sodium ion transport  positive regulation of neuron projection development  intercalated disc  sodium channel regulator activity  neuronal action potential propagation  sodium channel inhibitor activity  corticospinal neuron axon guidance  T-tubule  node of Ranvier  sodium ion transmembrane transport  locomotion  response to pyrethroid  membrane depolarization  cardiac muscle contraction  regulation of postsynaptic membrane potential  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  cardiac conduction  cardiac conduction  cardiac muscle cell action potential involved in contraction  voltage-gated sodium channel activity involved in cardiac muscle cell action potential  membrane depolarization during cardiac muscle cell action potential  membrane depolarization during Purkinje myocyte cell action potential  voltage-gated sodium channel activity involved in Purkinje myocyte action potential  regulation of heart rate by cardiac conduction  regulation of sodium ion transmembrane transporter activity  
Ontology : EGO-EBIvoltage-gated sodium channel complex  voltage-gated sodium channel activity  protein binding  extracellular region  plasma membrane  cell adhesion  chemical synaptic transmission  axon guidance  positive regulation of sodium ion transport  positive regulation of neuron projection development  intercalated disc  sodium channel regulator activity  neuronal action potential propagation  sodium channel inhibitor activity  corticospinal neuron axon guidance  T-tubule  node of Ranvier  sodium ion transmembrane transport  locomotion  response to pyrethroid  membrane depolarization  cardiac muscle contraction  regulation of postsynaptic membrane potential  regulation of ventricular cardiac muscle cell membrane repolarization  regulation of atrial cardiac muscle cell membrane depolarization  cardiac conduction  cardiac conduction  cardiac muscle cell action potential involved in contraction  voltage-gated sodium channel activity involved in cardiac muscle cell action potential  membrane depolarization during cardiac muscle cell action potential  membrane depolarization during Purkinje myocyte cell action potential  voltage-gated sodium channel activity involved in Purkinje myocyte action potential  regulation of heart rate by cardiac conduction  regulation of sodium ion transmembrane transporter activity  
Pathways : KEGGAdrenergic signaling in cardiomyocytes   
NDEx NetworkSCN1B
Atlas of Cancer Signalling NetworkSCN1B
Wikipedia pathwaysSCN1B
Orthology - Evolution
OrthoDB6324
GeneTree (enSembl)ENSG00000105711
Phylogenetic Trees/Animal Genes : TreeFamSCN1B
HOVERGENQ07699
HOGENOMQ07699
Homologs : HomoloGeneSCN1B
Homology/Alignments : Family Browser (UCSC)SCN1B
Gene fusions - Rearrangements
Fusion : MitelmanPPP2R5C/SCN1B [14q32.31/19q13.12]  [t(14;19)(q32;q13)]  
Fusion: TCGAPPP2R5C 14q32.31 SCN1B 19q13.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSCN1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SCN1B
dbVarSCN1B
ClinVarSCN1B
1000_GenomesSCN1B 
Exome Variant ServerSCN1B
ExAC (Exome Aggregation Consortium)SCN1B (select the gene name)
Genetic variants : HAPMAP6324
Genomic Variants (DGV)SCN1B [DGVbeta]
DECIPHERSCN1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSCN1B 
Mutations
ICGC Data PortalSCN1B 
TCGA Data PortalSCN1B 
Broad Tumor PortalSCN1B
OASIS PortalSCN1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSCN1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSCN1B
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 SCN1B
DgiDB (Drug Gene Interaction Database)SCN1B
DoCM (Curated mutations)SCN1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SCN1B (select a term)
intoGenSCN1B
Cancer3DSCN1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600235    604233    612838    615377    617350   
Orphanet965    8022    8592    10424    10307   
MedgenSCN1B
Genetic Testing Registry SCN1B
NextProtQ07699 [Medical]
TSGene6324
GENETestsSCN1B
Huge Navigator SCN1B [HugePedia]
snp3D : Map Gene to Disease6324
BioCentury BCIQSCN1B
ClinGenSCN1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6324
Chemical/Pharm GKB GenePA302
Clinical trialSCN1B
Miscellaneous
canSAR (ICR)SCN1B (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSCN1B
EVEXSCN1B
GoPubMedSCN1B
iHOPSCN1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:36:17 CEST 2017

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