Gene table of F12 : coagulation factor XII

Gene-disease associations table

Disease IDDisease nameSource of annotation with F12OMIM linkNumber of associated genesgenes
610618ANGIOEDEMA, HEREDITARY, TYPE IIIClinVar, OMIM, HUMSAVAR link to OMIM 1F12
234000FACTOR XII DEFICIENCYOMIM, HUMSAVAR link to OMIM 1F12

Download the gene annotation in CSV format

Annotation of the gene F12

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Complement and coagulation cascadeshsa046106.58
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Formation of Fibrin Clot (Clotting Cascade)R-HSA-1408777.7
HemostasisR-HSA-1095823.98
Intrinsic Pathway of Fibrin Clot FormationR-HSA-1408378.52
Associated GO terms for Molecular function
GO termGO IDGO IC
hydrolase activityGO:00167871.9
endopeptidase activityGO:00041753.63
serine-type endopeptidase activityGO:00042524.4
serine hydrolase activityGO:00171714.26
metal ion bindingGO:00468721.41
cation bindingGO:00431691.4
ion bindingGO:00431671.36
catalytic activityGO:00038241.05
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
misfolded protein bindingGO:00517877.25
calcium ion bindingGO:00055093.17
protein bindingGO:00055150.46
peptidase activityGO:00082333.23
serine-type peptidase activityGO:00082364.27
bindingGO:00054880.18