AutismKB 2.0

Annotation Details for FTL


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Basic Information Top
Gene Symbol:FTL ( MGC71996,NBIA3 )
Gene Full Name: ferritin, light polypeptide
Band: 19q13.33
Quick LinksEntrez ID:2512; OMIM: 134790; Uniprot ID:FRIL_HUMAN; ENSEMBL ID: ENSG00000087086; HGNC ID: 3999
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005829TAS-cytosol-
GO:0008043IDA-intracellular ferritin complex19923220
GO:0016020IDA-membrane19946888
GO:0035578TAS-azurophil granule lumen-
GO:0044754IDA-autolysosome25327288
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005506IDA-iron ion binding19923220
GO:0005515IPI-protein binding16169070
GO:0008199IEA-ferric iron binding-
GO:0042802IPI-identical protein binding16169070
GO ID Evidence Qualifier GO_term References
GO:0006826IEA-iron ion transport-
GO:0006879TAS-cellular iron ion homeostasis-
GO:0006880IBA-intracellular sequestering of iron ion-
GO:0043312TAS-neutrophil degranulation-
GO:0055072TAS-iron ion homeostasis19923220
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
FTLFTH110877316169070 16189514 Two-hybrid
FTLFTH110878916169070 16189514 Two-hybrid
KNG1FTL11002612071855 Reconstituted Complex
KNG1FTL10878912071855 Reconstituted Complex
SPINK7FTL12417412646258 Two-hybrid
SPINK7FTL10878912646258 Two-hybrid
MPP6FTL11967515231747 Two-hybrid
MPP6FTL10878915231747 Two-hybrid
FTLFTL10878916169070 16189514 Two-hybrid
PTNFTL11173116169070 Two-hybrid
PTNFTL10878916169070 Two-hybrid
TAF10FTL11274416169070 Two-hybrid
TAF10FTL10878916169070 Two-hybrid
MAP3K12FTL11356616169070 Two-hybrid
MAP3K12FTL10878916169070 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
FTLrs2230267 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:95589
  • 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