ENSG00000166257


Homo sapiens

Features
Gene ID: ENSG00000166257
  
Biological name :SCN3B
  
Synonyms : Q9NY72 / SCN3B / sodium voltage-gated channel beta subunit 3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q24.1
Gene start: 123629187
Gene end: 123655244
  
Corresponding Affymetrix probe sets: 204722_at (Human Genome U133 Plus 2.0 Array)   204723_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000299333
Ensembl peptide - ENSP00000435554
Ensembl peptide - ENSP00000434363
Ensembl peptide - ENSP00000432785
Ensembl peptide - ENSP00000376523
NCBI entrez gene - 55800     See in Manteia.
OMIM - 608214
RefSeq - XM_011542897
RefSeq - NM_001040151
RefSeq - NM_018400
RefSeq Peptide - NP_001035241
RefSeq Peptide - NP_060870
swissprot - Q9NY72
swissprot - E9PQS8
swissprot - A0A024R3H7
swissprot - E9PJP6
Ensembl - ENSG00000166257
  
Related genetic diseases (OMIM): 613120 - Atrial fibrillation, familial, 16, 613120
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
 scn3bENSDARG00000062359Danio rerio
 SCN3BENSGALG00000006490Gallus gallus
 Scn3bENSMUSG00000049281Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCN1B / Q07699 / sodium voltage-gated channel beta subunit 1ENSG0000010571129


Protein motifs (from Interpro)
Interpro ID Name
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR027096  Sodium channel subunit beta-3
 IPR027098  Sodium channel subunit beta-1/beta-3
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006814 sodium ion transport NAS
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0010460 positive regulation of heart rate ISS
 biological_processGO:0010765 positive regulation of sodium ion transport IMP
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035725 sodium ion transmembrane transport IDA
 biological_processGO:0051899 membrane depolarization IDA
 biological_processGO:0060048 cardiac muscle contraction IMP
 biological_processGO:0060371 regulation of atrial cardiac muscle cell membrane depolarization IMP
 biological_processGO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization IMP
 biological_processGO:0061337 cardiac conduction IEA
 biological_processGO:0065009 regulation of molecular function IEA
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:0086002 cardiac muscle cell action potential involved in contraction IMP
 biological_processGO:0086005 ventricular cardiac muscle cell action potential IMP
 biological_processGO:0086010 membrane depolarization during action potential IMP
 biological_processGO:0086012 membrane depolarization during cardiac muscle cell action potential IMP
 biological_processGO:0086014 atrial cardiac muscle cell action potential IMP
 biological_processGO:0086015 SA node cell action potential ISS
 biological_processGO:0086091 regulation of heart rate by cardiac conduction IMP
 biological_processGO:2000649 regulation of sodium ion transmembrane transporter activity IMP
 cellular_componentGO:0001518 voltage-gated sodium channel complex TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0030018 Z disc ISS
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity NAS
 molecular_functionGO:0005272 sodium channel activity IEA
 molecular_functionGO:0017080 sodium channel regulator activity IMP
 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:0004749 Atrial fibrillation or flutter 
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 HP:0012251 ST segment elevation "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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