GENE REFERENCE / HGNC:3530

F12

coagulation factor XII

protein-coding gene5q35.3Gene information

What does this gene do?

The F12 gene provides instructions for making a protein called coagulation factor XII. Coagulation factors are a group of related proteins that are essential for normal blood clotting (coagulation). After an injury, clots protect the body by sealing off damaged blood vessels and preventing further blood loss. Factor XII circulates in the bloodstream in an inactive form until it is activated, usually by coming in contact with damaged blood vessel walls. Upon activation, factor XII interacts with coagulation factor XI. This interaction sets off a chain of additional chemical reactions that form a blood clot.

Factor XII also plays a role in stimulating inflammation, a normal body response to infection, irritation, or injury. When factor XII is activated, it also interacts with a protein called plasma kallikrein. This interaction initiates a series of chemical reactions that lead to the release of a protein fragment (peptide) called bradykinin. Bradykinin promotes inflammation by allowing fluids to leak through the blood vessel walls into body tissues (vascular permeability). This leakage causes the swelling that accompanies inflammation.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-03-11. Source review: 2024-03.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
congenital factor XII deficiencyMONDO:0009315 · Evaluated 2020-01-22	Autosomal recessive	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel
hereditary angioedema type 3MONDO:0012526 · Evaluated 2024-09-04	Autosomal dominant	DefinitiveHemostasis/Thrombosis Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 333
Submissions for variants in or overlapping this gene: 570
Submissions explicitly reporting this gene: 482
Alleles reported pathogenic / likely pathogenic: 23
VariationIDs with uncertain significance: 130
VariationIDs with conflicting classifications: 22

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about F12?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 23 alleles in F12 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in F12.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →