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F12 coagulation factor XII

Gene ID: 2161, updated on 23-Nov-2021
Gene type: protein coding
Also known as: HAF; HAE3; HAEX

Summary

This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
GeneReviews: Not available
Factor XII deficiency disease
MedGen: C0015526OMIM: 234000GeneReviews: Not available
See labs
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
GeneReviews: Not available
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
GeneReviews: Not available
Hereditary angioedema type 3
MedGen: C1857728OMIM: 610618GeneReviews: Not available
See labs
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Novel loci involved in platelet function and platelet count identified by a genome-wide study performed in children.
GeneReviews: Not available

Genomic context

Location:
5q35.3
Sequence:
Chromosome: 5; NC_000005.10 (177402138..177409564, complement)
Total number of exons:
15

Links

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