F12 (coagulation factor XII)

2015-12-01  

Identity

HGNC
F12
LOCATION
5q35.3
LOCUSID
2161
ALIAS
HAE3,HAEX,HAF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2161
MIM: 610619
HGNC: 3530
Ensembl: ENSG00000131187

Variants:

dbSNP: 2161
ClinVar: 2161
TCGA: ENSG00000131187
COSMIC: F12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131187ENST00000253496P00748

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712734EnzymesChemicalClinicalAnnotationassociatedPD23280790
PA447054StrokeDiseaseClinicalAnnotationassociatedPD23280790

References

Pubmed IDYearTitleCitations
380650132024Factor XII Deficiency in Mexico: High Prevalence in the General Population and Patients with Venous Thromboembolic Disease.0
380650132024Factor XII Deficiency in Mexico: High Prevalence in the General Population and Patients with Venous Thromboembolic Disease.0
369729372023[Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency].0
371022872023[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
369729372023[Analysis of F12 gene variants and molecular mechanisms in patients with coagulation factor Ⅻ deficiency].0
371022872023[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
356750232022Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.1
356750232022Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation.1
334123992021Factor XII Concentrations and Risk of Intracerebral Haemorrhage. A Prospective Case-Referent Study.1
334123992021Factor XII Concentrations and Risk of Intracerebral Haemorrhage. A Prospective Case-Referent Study.1
317719822020A mutation in the kringle domain of human factor XII that causes autoinflammation, disturbs zymogen quiescence, and accelerates activation.8
319247662020Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.16
319846632020Contact activation-induced complex formation between complement factor H and coagulation factor XIIa.6
323358762020[Identification of compound heterozygous variants of F12 gene in a pedigree affected with inherited coagulation factor XII deficiency].1
330366492020Factor 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