AutismKB 2.0

Annotation Details for SCNN1D


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Basic Information Top
Gene Symbol:SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh )
Gene Full Name: sodium channel, nonvoltage-gated 1, delta
Band: 1p36.33
Quick LinksEntrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572; HGNC ID: 10601
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886IDA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0015629IDA-actin cytoskeleton-
GO:0016020IDA-membrane19812697
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding14645214
GO:0015280IEA-ligand-gated sodium channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006814TAS-sodium ion transport7499195
GO:0034220TAS-ion transmembrane transport-
GO:0035725IEA-sodium ion transmembrane transport-
GO:0050896IEA-response to stimulus-
GO:0050909IEA-sensory perception of taste-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top

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