AutismKB 2.0

Annotation Details for F12


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Basic Information Top
Gene Symbol:F12 ( HAE3,HAEX,HAF )
Gene Full Name: coagulation factor XII (Hageman factor)
Band: 5q35.3
Quick LinksEntrez ID:2161; OMIM: 610619; Uniprot ID:FA12_HUMAN; ENSEMBL ID: ENSG00000131187; HGNC ID: 3530
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005615IDA-extracellular space6793628
GO:0005886TAS-plasma membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0004252IDA-serine-type endopeptidase activity6793628
GO:0004252TAS-serine-type endopeptidase activity-
GO:0005509IEA-calcium ion binding-
GO:0005515IPI-protein binding8710908
GO:0051787IC-misfolded protein binding18725990
GO ID Evidence Qualifier GO_term References
GO:0002353IDA-plasma kallikrein-kinin cascade6793628
GO:0002542IDA-Factor XII activation18725990
GO:0007597IC-blood coagulation, intrinsic pathway18725990
GO:0007597TAS-blood coagulation, intrinsic pathway-
GO:0010756IDA-positive regulation of plasminogen activation89876
GO:0016485IDA-protein processing18725990
GO:0016540IDA-protein autoprocessing18725990
GO:0030194IDA-positive regulation of blood coagulation6793628
GO:0031638IDA-zymogen activation89876
GO:0042730IEA-fibrinolysis-
GO:0045087TAS-innate immune response2510163
GO:0051788IDA-response to misfolded protein18725990
GO:0051919IDA-positive regulation of fibrinolysis89876
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GP1BAF1210907310801853 Reconstituted Complex
GP1BAF1210845910801853 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1891012
  • 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