AutismKB 2.0

Annotation Details for SCN10A


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Basic Information Top
Gene Symbol:SCN10A ( Nav1.8,PN3,SNS,hPN3 )
Gene Full Name: sodium channel, voltage-gated, type X, alpha subunit
Band: 3p22.2
Quick LinksEntrez ID:6336; OMIM: 604427; Uniprot ID:SCNAA_HUMAN; ENSEMBL ID: ENSG00000185313; HGNC ID: 10582
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001518IDA-voltage-gated sodium channel complex9839820
GO:0070062IDA-extracellular exosome19056867
GO:0071439IEA-clathrin complex-
GO ID Evidence Qualifier GO_term References
GO:0005248IDA-voltage-gated sodium channel activity9839820
GO:0044325IPI-ion channel binding24998131
GO ID Evidence Qualifier GO_term References
GO:0002027IMP-regulation of heart rate20062061
GO:0007600TAS-sensory perception9839820
GO:0019228IBA-neuronal action potential-
GO:0019233IEA-sensory perception of pain-
GO:0034765IDA-regulation of ion transmembrane transport9839820
GO:0035725IDA-sodium ion transmembrane transport9839820
GO:0042475IEA-odontogenesis of dentin-containing tooth-
GO:0055117IMP-regulation of cardiac muscle contraction20062061
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0060371IMP-regulation of atrial cardiac muscle cell membrane depolarization20062061
GO:0086010IBA-membrane depolarization during action potential-
GO:0086016IMP-AV node cell action potential24998131
GO:0086043IMP-bundle of His cell action potential24998131
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:108029
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (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