AutismKB 2.0

Annotation Details for SCN7A


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Basic Information Top
Gene Symbol:SCN7A ( SCN6A )
Gene Full Name: sodium channel, voltage-gated, type VII, alpha
Band: 2q24.3
Quick LinksEntrez ID:6332; OMIM: 182392; Uniprot ID:SCN7A_HUMAN; ENSEMBL ID: ENSG00000136546; HGNC ID: 10594
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:0005886IBA-plasma membrane-
GO:0097386IEA-glial cell projection-
GO ID Evidence Qualifier GO_term References
GO:0005248IBA-voltage-gated sodium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006814TAS-sodium ion transport1317577
GO:0006936IEA-muscle contraction-
GO:0019228IBA-neuronal action potential-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035725IEA-sodium ion transmembrane transport-
GO:0055078IEA-sodium ion homeostasis-
GO:0060078IEA-regulation of postsynaptic membrane potential-
GO:0086010IBA-membrane depolarization during action potential-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:102965
  • Data Attributes: MGI curated and HomoloGene calculated
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