AutismKB 2.0

Annotation Details for SCN2A


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Basic Information Top
Gene Symbol:SCN2A ( BFIC3,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2 )
Gene Full Name: sodium channel, voltage-gated, type II, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6326; OMIM: 182390; Uniprot ID:SCN2A_HUMAN; ENSEMBL ID: ENSG00000136531; HGNC ID: 10588
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:0005622IEA-intracellular-
GO:0005887TAS-integral component of plasma membrane1325650
GO:0014704IEA-intercalated disc-
GO:0030315IEA-T-tubule-
GO:0030424TAS-axon16652168
GO:0031226ISS-intrinsic component of plasma membrane-
GO:0033268ISS-node of Ranvier-
GO:0033270IEA-paranode region of axon-
GO:0034706ISS-sodium channel complex-
GO ID Evidence Qualifier GO_term References
GO:0005248IBA-voltage-gated sodium channel activity-
GO:0005248IMP-voltage-gated sodium channel activity28256214
GO:0005248ISS-voltage-gated sodium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006814TAS-sodium ion transport1325650
GO:0008627IEA-intrinsic apoptotic signaling pathway in response to osmotic stress-
GO:0019228IBA-neuronal action potential-
GO:0034765IEA-regulation of ion transmembrane transport-
GO:0035725ISS-sodium ion transmembrane transport-
GO:0042552ISS-myelination-
GO:0051402IEA-neuron apoptotic process-
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
SCN2AANK311223114761957 Affinity Capture-Western
SCN2AANK310678514761957 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top

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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


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