ENSG00000177098


Homo sapiens

Features
Gene ID: ENSG00000177098
  
Biological name :SCN4B
  
Synonyms : Q8IWT1 / SCN4B / sodium voltage-gated channel beta subunit 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q23.3
Gene start: 118133377
Gene end: 118152888
  
Corresponding Affymetrix probe sets: 236359_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000436343
Ensembl peptide - ENSP00000322460
NCBI entrez gene - 6330     See in Manteia.
OMIM - 608256
RefSeq - NM_001142349
RefSeq - NM_001142348
RefSeq - NM_174934
RefSeq Peptide - NP_001135820
RefSeq Peptide - NP_001135821
RefSeq Peptide - NP_777594
swissprot - Q8IWT1
swissprot - B0YJ93
Ensembl - ENSG00000177098
  
Related genetic diseases (OMIM): 611819 - Atrial fibrillation, familial, 17, 611819
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 scn4baENSDARG00000099031Danio rerio
 scn4bbENSDARG00000060319Danio rerio
 SCN4BENSGALG00000007409Gallus gallus
 Scn4bENSMUSG00000046480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCN2B / O60939 / sodium voltage-gated channel beta subunit 2ENSG0000014957525


Protein motifs (from Interpro)
Interpro ID Name
 IPR000920  Myelin P0 protein-related
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport IEA
 biological_processGO:0010765 positive regulation of sodium ion transport IDA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IDA
 biological_processGO:0060048 cardiac muscle contraction IMP
 biological_processGO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization IMP
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction IMP
 biological_processGO:0086012 membrane depolarization during cardiac muscle cell action potential IMP
 biological_processGO:0086016 AV node cell action potential IMP
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:2000649 regulation of sodium ion transmembrane transporter activity IDA
 cellular_componentGO:0001518 voltage-gated sodium channel complex IMP
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0014704 intercalated disc ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031226 intrinsic component of plasma membrane IDA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IDA
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0017080 sodium channel regulator activity IDA
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential IMP


Pathways (from Reactome)
Pathway description
Interaction between L1 and Ankyrins
Phase 0 - rapid depolarisation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001645 Sudden cardiac death 
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 HP:0001657 Prolonged QT interval on EKG 
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 HP:0001678 Atrioventricular block 
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 HP:0005110 Atrial fibrillation 
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 HP:0012266 T-wave alternans "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [HPO:probinson, pmid:17592081]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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