Property Summary

NCBI Gene PubMed Count 226
Grant Count 672
R01 Count 375
Funding $153,903,261.17
PubMed Score 3414.79
PubTator Score 3413.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -2.800 0.000

Synonym

Accession P00740 A8K9N4 F2RM36 Q5FBE1 Q5JYJ8
Symbols FIX
P19
PTC
HEMB
THPH8
F9 p22

Gene

F9

PDB

3KCG   1CFH   1CFI   1EDM   1IXA   1MGX   1NL0   1RFN   2WPH   2WPI   2WPJ   2WPK   2WPL   2WPM   3LC3   3LC5   4WM0   4WMA   4WMB   4WMI   4WMK   4WN2   4WNH   4YZU   4Z0K   4ZAE   5EGM   5F84   5F85   5F86   5JB8   5JB9   5JBA   5JBB   5JBC  

Gene RIF (140)

PMID Text
27529981 Mutations were revealed in 56 unrelated patients with hemophilia B in this study by using direct sequencing of factor IX gene functionally important fragments.
26023895 Data suggest that Gly317 plays role in normal catalytic function for FIX/FIXa in the clotting cascade; mutations in Gly317 (G317R, G317E) result in variable severity of bleeding in hemophilia B patients.
25851619 Selective disruption of exosite-mediated regulation of factor IX by heparin and antithrombin can be achieved with preserved or enhanced thrombin generation capacity.
25582609 study revealed six unique and unreported changes in the F9 gene among haemophilia B patients from Macedonia and Bulgaria
25470321 We conclude that the nature of the F9 gene mutation may be an important risk factor for the development of inhibitors.
25402191 The Cys109Tyr F9 mutation found in two siblings and their mother, is a missense mutation previously described in two patients with hemophilia B, but first in Korea.
25224783 Activatable bioengineered FIX molecules with FVIII-independent activity might be a promising tool for improving hemophilia A treatment, especially for patients with inhibitors.
25163770 Describe inhibition of tissue factor:factor VIIa-catalyzed factor IX and factor X activation by TFPI and TFPI constructs.
25157807 All four domains of FIXa wrap across FVIIIa that spans the co-factor binding surface of A2, A3 and C1 domains.
24816826 repetitive elements and non-B DNA forming motifs contribute to deletion mutations in severe haemophilia B
More...

AA Sequence

MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRPKRYNSGKLEEFVQGNLERECMEEKCS      1 - 70
FEEAREVFENTERTTEFWKQYVDGDQCESNPCLNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGR     71 - 140
CEQFCKNSADNKVVCSCTEGYRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETI    141 - 210
LDNITQSTQSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKITVVAG    211 - 280
EHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPICIADKEYTNIFLKFGS    281 - 350
GYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYNNMFCAGFHEGGRDSCQGDSGGPHVTEVE    351 - 420
GTSFLTGIISWGEECAMKGKYGIYTKVSRYVNWIKEKTKLT                                 421 - 461
//

Text Mined References (237)

PMID Year Title
27529981 2016 [Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].
26023895 2015 Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients.
25851619 2015 Selective disruption of heparin and antithrombin-mediated regulation of human factor IX.
25582609 2015 Identification of six novel F9 mutations among haemophilia B patients from Macedonia and Bulgaria.
25470321 2015 Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.
25456591 2014 Identification of protein O-glycosylation site and corresponding glycans using liquid chromatography-tandem mass spectrometry via mapping accurate mass and retention time shift.
25402191 2015 Maternal low-level somatic mosaicism of Cys155Tyr of F9 in severe hemophilia B.
25251685 2014 Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.
25224783 2014 Next generation FIX muteins with FVIII-independent activity for alternative treatment of hemophilia A.
25163770 2014 Inhibition of tissue factor:factor VIIa-catalyzed factor IX and factor X activation by TFPI and TFPI constructs.
More...