AutismKB 2.0

Annotation Details for SCN3A


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Basic Information Top
Gene Symbol:SCN3A ( KIAA1356,NAC3,Nav1.3 )
Gene Full Name: sodium channel, voltage-gated, type III, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6328; OMIM: 182391; Uniprot ID:SCN3A_HUMAN; ENSEMBL ID: ENSG00000153253; HGNC ID: 10590
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001518IEA-voltage-gated sodium channel complex-
GO:0005737IEA-cytoplasm-
GO:0005886IBA-plasma membrane-
GO ID Evidence Qualifier GO_term References
GO:0005248IBA-voltage-gated sodium channel activity-
GO:0005248NAS-voltage-gated sodium channel activity9589372
GO ID Evidence Qualifier GO_term References
GO:0006814NAS-sodium ion transport9589372
GO:0019228IBA-neuronal action potential-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035725IEA-sodium ion transmembrane transport-
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0086010IBA-membrane depolarization during action potential-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SCN3ALRP111223310827173 Two-hybrid
SCN3ALRP111021510827173 Two-hybrid
SCN3ALRP211021610827173 Two-hybrid
SCN3ALRP211223310827173 Two-hybrid
LRP8SCN3A11223310827173 Two-hybrid
LRP8SCN3A11357910827173 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:98249
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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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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