Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2161
MIM: 610619
HGNC: 3530
Ensembl: ENSG00000131187
Variants:
dbSNP: 2161
ClinVar: 2161
TCGA: ENSG00000131187
COSMIC: F12
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000131187 | ENST00000253496 | P00748 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164712734 | Enzymes | Chemical | ClinicalAnnotation | associated | PD | 23280790 | |
| PA447054 | Stroke | Disease | ClinicalAnnotation | associated | PD | 23280790 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38065013 | 2024 | Factor XII Deficiency in Mexico: High Prevalence in the General Population and Patients with Venous Thromboembolic Disease. | 0 |
| 38065013 | 2024 | Factor XII Deficiency in Mexico: High Prevalence in the General Population and Patients with Venous Thromboembolic Disease. | 0 |
| 36972937 | 2023 | [Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency]. | 0 |
| 37102287 | 2023 | [Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene]. | 0 |
| 36972937 | 2023 | [Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency]. | 0 |
| 37102287 | 2023 | [Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene]. | 0 |
| 35675023 | 2022 | Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation. | 1 |
| 35675023 | 2022 | Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation. | 1 |
| 33412399 | 2021 | Factor XII Concentrations and Risk of Intracerebral Haemorrhage. A Prospective Case-Referent Study. | 1 |
| 33412399 | 2021 | Factor XII Concentrations and Risk of Intracerebral Haemorrhage. A Prospective Case-Referent Study. | 1 |
| 31771982 | 2020 | A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation. | 8 |
| 31924766 | 2020 | Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. | 16 |
| 31984663 | 2020 | Contact activation-induced complex formation between complement factor H and coagulation factor XIIa. | 6 |
| 32335876 | 2020 | [Identification of compound heterozygous variants of F12 gene in a pedigree affected with inherited coagulation factor XII deficiency]. | 1 |
| 33036649 | 2020 | Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway. | 5 |
Citation
Dessen P
F12 (coagulation factor XII)
Atlas Genet Cytogenet Oncol Haematol. 2015-12-01
Online version: http://atlasgeneticsoncology.org/gene/55547/f12-(coagulation-factor-xii)
