F12

Chr 5q35.3

coagulation factor XII

MANE:: ENST00000253496.4

OMIM: 610619 ↗NCBI: 2161 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

F12 · P00748

v62025-08-01

Predicted Aligned Error matrix for F12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.3/ 100

Confident

615 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)30%
Low(50–70)12%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Inherited bleeding disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vascular skin disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital factor XII deficiency
0.81
hereditary angioedema type 3
0.78
Reduced factor XII activity
0.74
hereditary angioedema
0.68
peptic ulcer disease
0.45
angioedema
0.41
flatulence
0.37
serum lipopolysaccharide activity
0.36
coronary artery calcification
0.36
Hyperbilirubinemia
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Coagulation factor XII

Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa (PubMed:2019570, PubMed:21304106, PubMed:8427954)