F12 Chromosome 5
Coagulation factor XII
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What This Gene Does
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]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
5q35.3
Ensembl
ENSG00000131187
Associated Conditions (21)
Inborn genetic diseases
Factor XII deficiency disease
Hereditary angioedema type 3
Hepatocellular carcinoma
F12-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Melanoma
Cervical cancer
Malignant tumor of esophagus
Colon adenocarcinoma
Gastric cancer
FACTOR XII (WASHINGTON D.C.)
FACTOR XII (LOCARNO)
Hereditary angioneurotic edema
Angioedema
Hyperbilirubinemia
Urticaria
+1 more conditions
Key Variants
RS139263608
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140243617
Conflicting classifications of pathogenicity
Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease
Health Risk
RS141342777
Conflicting classifications of pathogenicity
Hepatocellular carcinoma, Hepatocellular carcinoma
Health Risk
RS141473119
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3
Health Risk
RS143809932
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Inborn genetic diseases, F12-related disorder
Health Risk
RS149368999
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3
Health Risk
RS17876032
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Factor XII deficiency disease, F12-related disorder
Health Risk
RS201346142
Conflicting classifications of pathogenicity
Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease
Health Risk
RS201546796
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3
Health Risk
RS2230939
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Factor XII deficiency disease, Inborn genetic diseases
Health Risk
RS35515200
Conflicting classifications of pathogenicity
Factor XII deficiency disease, Hereditary angioedema type 3, F12-related disorder
Health Risk
RS41309132
Conflicting classifications of pathogenicity
Hereditary angioedema type 3, Factor XII deficiency disease, F12-related disorder
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139263608 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140243617 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease |
| RS141342777 | Health Risk | Conflicting classifications of pathogenicity | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS141473119 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3 |
| RS143809932 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Inborn genetic diseases, F12-related disorder |
| RS149368999 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3 |
| RS17876032 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, F12-related disorder |
| RS201346142 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease |
| RS201546796 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3 |
| RS2230939 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Inborn genetic diseases |
| RS35515200 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, F12-related disorder |
| RS41309132 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, F12-related disorder |
| RS536390950 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease |
| RS552424629 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3 |
| RS570973405 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3 |
| RS61743702 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758462343 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease |
| RS761161412 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, Factor XII deficiency disease |
| RS770412757 | Health Risk | Conflicting classifications of pathogenicity | Factor XII deficiency disease, Hereditary angioedema type 3, Inborn genetic diseases |
| RS779057710 | Health Risk | Conflicting classifications of pathogenicity | Hereditary angioedema type 3, Factor XII deficiency disease, Hereditary angioedema type 3 |
| RS1554097246 | Health Risk | Likely pathogenic | Hereditary angioedema type 3, F12-related disorder, Hereditary angioedema type 3 |
| RS199988476 | Health Risk | Likely pathogenic | Factor XII deficiency disease, F12-related disorder, Hereditary angioedema type 3 |
| RS202071046 | Health Risk | Likely pathogenic | — |
| RS2481043070 | Health Risk | Likely pathogenic | Factor XII deficiency disease, Factor XII deficiency disease |
| RS41309762 | Health Risk | Likely pathogenic | Factor XII deficiency disease, Factor XII deficiency disease |
| RS1157280571 | Health Risk | Pathogenic | FACTOR XII (WASHINGTON D.C.), FACTOR XII (WASHINGTON D.C.) |
| RS118204454 | Health Risk | Pathogenic | FACTOR XII (LOCARNO), FACTOR XII (LOCARNO) |
| RS118204456 | Health Risk | Pathogenic | Hereditary angioedema type 3, Hereditary angioneurotic edema, Factor XII deficiency disease |
| RS2481036738 | Health Risk | Pathogenic | Factor XII deficiency disease, Factor XII deficiency disease |
| RS774034606 | Health Risk | Pathogenic | Hereditary angioedema type 3, Hereditary angioedema type 3 |
| RS1763248340 | Health Risk | Pathogenic/Likely pathogenic | — |