AutismKB 2.0

Annotation Details for FLG


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Basic Information Top
Gene Symbol:FLG ( ATOD2 )
Gene Full Name: filaggrin
Band: 1q21.3
Quick LinksEntrez ID:2312; OMIM: 135940; Uniprot ID:FILA_HUMAN; ENSEMBL ID: ENSG00000143631; HGNC ID: 3748
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001533IDA-cornified envelope7543090
GO:0005634IDA-nucleus21630459
GO:0005829TAS-cytosol-
GO:0005882NAS-intermediate filament2740331
GO:0036457IDA-keratohyalin granule1429717
GO:0043231IDA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0005198NAS-structural molecule activity2740331
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding23629652
GO:0030280IDA-structural constituent of epidermis7543090
GO:0046914IEA-transition metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0007275NAS-multicellular organism development2740331
GO:0018149IDA-peptide cross-linking7543090
GO:0030216TAS-keratinocyte differentiation17704059
GO:0061436IEP-establishment of skin barrier23403047
GO:0070268TAS-cornification-
GO:0098773IC-skin epidermis development7543090
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
USP1FLG11324119615732 Affinity Capture-MS
USP1FLG10860119615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95553
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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