AutismKB 2.0

Annotation Details for SCN5A


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Basic Information Top
Gene Symbol:SCN5A ( CDCD2,CMD1E,CMPD2,HB1,HB2,HBBD,HH1,ICCD,IVF,LQT3,Nav1.5,PFHB1,SSS1,VF1 )
Gene Full Name: sodium channel, voltage-gated, type V, alpha subunit
Band: 3p22.2
Quick LinksEntrez ID:6331; OMIM: 600163; Uniprot ID:SCN5A_HUMAN; ENSEMBL ID: ENSG00000183873; HGNC ID: 10593
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001518IC-voltage-gated sodium channel complex14500339
GO:0001518IDA-voltage-gated sodium channel complex19808477
GO:0005622IDA-intracellular19943616
GO:0005783IDA-endoplasmic reticulum22529811
GO:0005886IDA-plasma membrane16728661
GO:0005886IMP-plasma membrane23085483
GO:0005886TAS-plasma membrane-
GO:0005901IDA-caveola23420830
GO:0005901TAScolocalizes_withcaveola17060380
GO:0009986IDA-cell surface14500339
GO:0014704IDA-intercalated disc15579534
GO:0014704ISS-intercalated disc18184654
GO:0016021IDA-integral component of membrane19074138
GO:0016328TAS-lateral plasma membrane21164104
GO:0030018IDA-Z disc19943616
GO:0030315IDA-T-tubule15579534
GO:0042383IDA-sarcolemma17060380
GO ID Evidence Qualifier GO_term References
GO:0005248IDA-voltage-gated sodium channel activity14500339
GO:0005248IMP-voltage-gated sodium channel activity23085483
GO:0005515IPI-protein binding16728661
GO:0005516IEA-calmodulin binding-
GO:0017134IPI-fibroblast growth factor binding12401812
GO:0019899IPI-enzyme binding19666841
GO:0019901IPI-protein kinase binding22514276
GO:0019904IPI-protein domain specific binding19943616
GO:0030506IDA-ankyrin binding15579534
GO:0031625IPI-ubiquitin protein ligase binding15217910
GO:0044325IPI-ion channel binding17592081
GO:0050998IPI-nitric-oxide synthase binding18591664
GO:0086006IDA-voltage-gated sodium channel activity involved in cardiac muscle cell action potential18065446
GO:0086006IMP-voltage-gated sodium channel activity involved in cardiac muscle cell action potential18616619
GO:0086060IMP-voltage-gated sodium channel activity involved in AV node cell action potential18616619
GO:0086061IMP-voltage-gated sodium channel activity involved in bundle of His cell action potential18065446
GO:0086062IMP-voltage-gated sodium channel activity involved in Purkinje myocyte action potential22766342
GO:0086063IMP-voltage-gated sodium channel activity involved in SA node cell action potential18616619
GO:0097110IPI-scaffold protein binding17060380
GO ID Evidence Qualifier GO_term References
GO:0002027IMP-regulation of heart rate10471492
GO:0003231ISS-cardiac ventricle development-
GO:0003360ISS-brainstem development-
GO:0006814IDA-sodium ion transport19074138
GO:0010765IDA-positive regulation of sodium ion transport14500339
GO:0014894ISS-response to denervation involved in regulation of muscle adaptation-
GO:0019228IBA-neuronal action potential-
GO:0021537ISS-telencephalon development-
GO:0021549ISS-cerebellum development-
GO:0035725IDA-sodium ion transmembrane transport14500339
GO:0035725IMP-sodium ion transmembrane transport21895525
GO:0042475ISS-odontogenesis of dentin-containing tooth-
GO:0045760ISS-positive regulation of action potential-
GO:0050679ISS-positive regulation of epithelial cell proliferation-
GO:0051899IDA-membrane depolarization14500339
GO:0060048IMP-cardiac muscle contraction18065446
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0060307IMP-regulation of ventricular cardiac muscle cell membrane repolarization7889574
GO:0060371IMP-regulation of atrial cardiac muscle cell membrane depolarization19167345
GO:0060372IMP-regulation of atrial cardiac muscle cell membrane repolarization19167345
GO:0060373IMP-regulation of ventricular cardiac muscle cell membrane depolarization7889574
GO:0061337TAS-cardiac conduction-
GO:0071277IDA-cellular response to calcium ion19074138
GO:0086002IMP-cardiac muscle cell action potential involved in contraction21895525
GO:0086004IMP-regulation of cardiac muscle cell contraction22529811
GO:0086005IMP-ventricular cardiac muscle cell action potential22529811
GO:0086010IDA-membrane depolarization during action potential14500339
GO:0086012IMP-membrane depolarization during cardiac muscle cell action potential21895525
GO:0086014IMP-atrial cardiac muscle cell action potential18065446
GO:0086015IMP-SA node cell action potential18616619
GO:0086016IMP-AV node cell action potential18616619
GO:0086043IMP-bundle of His cell action potential18065446
GO:0086045IMP-membrane depolarization during AV node cell action potential18616619
GO:0086046IMP-membrane depolarization during SA node cell action potential18616619
GO:0086047IMP-membrane depolarization during Purkinje myocyte cell action potential22766342
GO:0086048IMP-membrane depolarization during bundle of His cell action potential18065446
GO:0086067IMP-AV node cell to bundle of His cell communication10471492
GO:0086091IMP-regulation of heart rate by cardiac conduction21895525
GO:0098912IMP-membrane depolarization during atrial cardiac muscle cell action potential18065446
GO:1902305IDA-regulation of sodium ion transmembrane transport18591664
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SCN5ANEDD411223615217910 Biochemical Activity; Reconstituted Complex
SCN5ANEDD411081115217910 Biochemical Activity; Reconstituted Complex
SNTB1SCN5A1122369412493 Affinity Capture-Western
SNTB1SCN5A1125249412493 Affinity Capture-Western
SNTB2SCN5A1125289412493 Affinity Capture-Western
SNTB2SCN5A1122369412493 Affinity Capture-Western
SNTA1SCN5A1122369412493 Affinity Capture-Western; Protein-peptide
SNTA1SCN5A1125239412493 Affinity Capture-Western; Protein-peptide
UBCSCN5A11223615217910 Affinity Capture-Western
UBCSCN5A11316415217910 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98251
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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