Property Summary

NCBI Gene PubMed Count 170
Grant Count 41
R01 Count 21
Funding $18,597,285.39
PubMed Score 712.89
PubTator Score 895.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
ependymoma -1.100 0.014
psoriasis 1.600 0.000
sonic hedgehog group medulloblastoma 1.500 0.001
cystic fibrosis -1.114 0.000
Atopic dermatitis 1.400 0.000
non-small cell lung cancer 2.240 0.000
intraductal papillary-mucinous neoplasm ... 1.600 0.003
lung cancer 1.400 0.001
breast carcinoma 1.100 0.014
adult high grade glioma 1.200 0.001
pilocytic astrocytoma 1.400 0.000
lung adenocarcinoma 1.700 0.000
non-inflammatory breast cancer 1.400 0.011
ductal carcinoma in situ 1.500 0.005
invasive ductal carcinoma 1.500 0.001
ovarian cancer 1.300 0.000

Gene RIF (138)

PMID Text
26969407 Genotyping these subjects revealed that the carriers of the minor alleles at the two loci- F12 and KLKB1 had a significant association with reduced levels of active plasma renin.
26709783 findings suggest that the three mutations in the F12 gene are the causing reasons for the cross-reactive material-negative FXII deficiencies
26706311 Active neutrophil extracellular traps formation can induce factor XII-mediated coagulation activation in patients with disseminated intravascular coagulation with poor prognosis.
26286125 Results support the importance of contact activation pathway-dependent TG as a risk factor for ischemic stroke, and indicate the importance of F12 SNPs for TG ex vivo and in vivo.
26248961 It is concluded that F12-46C/T carriage acts as an independent modifier of hereditary angioedema due to C1-INH deficiency severity.
26193639 the results of this study characterize the mechanism of HAEIII and establish FXII inhibition as a potential therapeutic strategy to interfere with excessive vascular leakage in HAEIII
26153520 data illustrate a critical role for polyphosphate/factor XII-triggered coagulation in prostate cancer-associated thrombosis with implications for anticoagulation without therapy-associated bleeding in malignancies
26153047 We postulate that FXIIa first strengthens the clot structure during clot formation and thereafter contributes towards fibrinolysis.
26105808 The results provide an essential basis for the diagnosis of FXII deficiencies in Chinese.
26037346 The heterozygous mutation of g.8597G>A identified in exon 13 of FXII gene is associated with hereditary coagulation factor XII deficiency.
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AA Sequence

MRALLLLGFLLVSLESTLSIPPWEAPKEHKYKAEEHTVVLTVTGEPCHFPFQYHRQLYHKCTHKGRPGPQ      1 - 70
PWCATTPNFDQDQRWGYCLEPKKVKDHCSKHSPCQKGGTCVNMPSGPHCLCPQHLTGNHCQKEKCFEPQL     71 - 140
LRFFHKNEIWYRTEQAAVARCQCKGPDAHCQRLASQACRTNPCLHGGRCLEVEGHRLCHCPVGYTGAFCD    141 - 210
VDTKASCYDGRGLSYRGLARTTLSGAPCQPWASEATYRNVTAEQARNWGLGGHAFCRNPDNDIRPWCFVL    211 - 280
NRDRLSWEYCDLAQCQTPTQAAPPTPVSPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPGALPAKREQPPS    281 - 350
LTRNGPLSCGQRLRKSLSSMTRVVGGLVALRGAHPYIAALYWGHSFCAGSLIAPCWVLTAAHCLQDRPAP    351 - 420
EDLTVVLGQERRNHSCEPCQTLAVRSYRLHEAFSPVSYQHDLALLRLQEDADGSCALLSPYVQPVCLPSG    421 - 490
AARPSETTLCQVAGWGHQFEGAEEYASFLQEAQVPFLSLERCSAPDVHGSSILPGMLCAGFLEGGTDACQ    491 - 560
GDSGGPLVCEDQAAERRLTLQGIISWGSGCGDRNKPGVYTDVAYYLAWIREHTVS                   561 - 615
//

Text Mined References (174)

PMID Year Title
26969407 2016 Polymorphisms at the F12 and KLKB1 loci have significant trait association with activation of the renin-angiotensin system.
26709783 2016 Novel mutations in congenital factor XII deficiency.
26706311 2016 Factor XII-mediated contact activation related to poor prognosis in disseminated intravascular coagulation.
26286125 2015 Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study.
26248961 2015 F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema.
26193639 2015 Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III.
26153520 2015 The polyphosphate-factor XII pathway drives coagulation in prostate cancer-associated thrombosis.
26153047 2015 The role of activated coagulation factor XII in overall clot stability and fibrinolysis.
26105808 2015 Normal range and genetic analysis of coagulation factor XII in the general Chinese population.
26037346 2015 [Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency].
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