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
193723762009Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.299
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
229933912012In vivo roles of factor XII.68
187259902008Misfolded proteins activate factor XII in humans, leading to kallikrein formation without initiating coagulation.67
166384412006Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.54
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
218281452011Factor XIIa regulates the structure of the fibrin clot independently of thrombin generation through direct interaction with fibrin.34
189748422008Gender differences in genetic risk profiles for cardiovascular disease.33
194774912009Hereditary angioedema caused by missense mutations in the factor XII gene: clinical features, trigger factors, and therapy.33
202282682010Factor XII stimulates ERK1/2 and Akt through uPAR, integrins, and the EGFR to initiate angiogenesis.33

Citation

Dessen P

F12 (coagulation factor XII)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/gene/55547/f12