AutismKB 2.0

Annotation Details for SCNN1G


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Basic Information Top
Gene Symbol:SCNN1G ( BESC3,ENaCg,ENaCgamma,PHA1,SCNEG )
Gene Full Name: sodium channel, nonvoltage-gated 1, gamma
Band: 16p12.2
Quick LinksEntrez ID:6340; OMIM: 600761; Uniprot ID:SCNNG_HUMAN; ENSEMBL ID: ENSG00000166828; HGNC ID: 10602
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005730IDA-nucleolus-
GO:0005886IDA-plasma membrane-
GO:0005886TAS-plasma membrane-
GO:0005887IDA-integral component of plasma membrane24124190
GO:0009897IEA-external side of plasma membrane-
GO:0016324IEA-apical plasma membrane-
GO:0034706IDA-sodium channel complex24124190
GO:0070062IDA-extracellular exosome15326289
GO ID Evidence Qualifier GO_term References
GO:0005216IMP-ion channel activity22864553
GO:0005272TAS-sodium channel activity8521520
GO:0005515IPI-protein binding11244092
GO:0015280IDAcontributes_toligand-gated sodium channel activity24124190
GO:0050699IPI-WW domain binding10642508
GO ID Evidence Qualifier GO_term References
GO:0006814TAS-sodium ion transport8521520
GO:0007588TAS-excretion8640238
GO:0034220TAS-ion transmembrane transport-
GO:0035725IDA-sodium ion transmembrane transport24124190
GO:0050891IDA-multicellular organismal water homeostasis24124190
GO:0050896IEA-response to stimulus-
GO:0050909IEA-sensory perception of taste-
GO:0055078IDA-sodium ion homeostasis24124190
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SCNN1GNEDD411224410642508 11244092 12167593 Far Western; Reconstituted Complex
SCNN1GNEDD411081110642508 11244092 12167593 Far Western; Reconstituted Complex
NEDD4LSCNN1G11691511244092 Far Western
NEDD4LSCNN1G11224411244092 Far Western
WWP2SCNN1G11224412167593 Reconstituted Complex
WWP2SCNN1G11624412167593 Reconstituted Complex
STX1ASCNN1G11224414996668 Affinity Capture-Western; Reconstituted Complex
STX1ASCNN1G11267614996668 Affinity Capture-Western; Reconstituted Complex
AP1M2SCNN1G11224417381423 Affinity Capture-Western
AP1M2SCNN1G11536417381423 Affinity Capture-Western
UBCSCNN1G11224417381423 17502380 18322022 18632802 Affinity Capture-Western
UBCSCNN1G11316417381423 17502380 18322022 18632802 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:104695
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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


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