Property Summary

NCBI Gene PubMed Count 545
Grant Count 506
R01 Count 211
Funding $125,849,320.54
PubMed Score 3816.87
PubTator Score 3069.55

Knowledge Summary

Patent

No data available

TINX Plot

Expression

Synonym

Accession P00451 Q14286 Q5HY69
Symbols AHF
F8B
F8C
HEMA
FVIII
DXS1253E

Gene

F8

PDB

1CFG   1D7P   1FAC   1IQD   2R7E   3CDZ   3HNB   3HNY   3HOB   3J2Q   3J2S   4BDV   4KI5   4PT6   4XZU  

 OMIM Term (1)

Gene RIF (450)

PMID Text
27455009 Carriers of Inv22 or Inv1 of F8 may be precisely detected with inverse-shifting PCR
26897466 large F8 rearrangements pose the highest risk, while missense mutations pose the lowest risk of inhibitor development in Indian hemophilia A patients
26653368 Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.
26598467 Factor VIII 3E6 antibody binding decreases the thermal motion behavior of surface loops in the C2 domain on the opposing face, thereby suggesting that cooperative antibody binding is a dynamic effect.
26525229 FXIII expression was upregulated in the airways of asthmatic patients after allergen exposure.
26473492 Stimulated GMVECs and HUVECs were found to secrete cell-anchored ultra-large VWF strings covered with bound FVIII.
26453193 Platelet-targeted FVIII gene therapy has higher therapeutic efficacy compared to factor VIII replacement therapy may be due to accelerated thrombin generation.
26383047 3030 SNPS, 31 Indels and a large, 497 kb, deletion were found among 2535 subjects from 26 different ethnic groups participating in the 1000 Genomes Project.
26346528 Membrane Interaction of the Factor VIIIa Discoidin Domains in Atomistic Detail.
26345748 Among the seven HA families whose coding region of the FVIII gene was directly sequenced,five patients and certain of their female relatives had mutations detected.
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AA Sequence

MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFNTSVVYKKTLF      1 - 70
VEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAVGVSYWKASEGAEYDDQTSQR     71 - 140
EKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSHVDLVKDLNSGLIGALLVCREGSLAKEKTQT    141 - 210
LHKFILLFAVFDEGKSWHSETKNSLMQDRDAASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMG    211 - 280
TTPEVHSIFLEGHTFLVRNHRQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPE    281 - 350
EPQLRMKNNEEAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA    351 - 420
PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTLLIIFKNQASR    421 - 490
PYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGPTKSDPRCLTRYYSSFVNMER    491 - 560
DLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDENRSWYLTENIQRFLPNPAGVQLEDPEFQAS    561 - 630
NIMHSINGYVFDSLQLSVCLHEVAYWYILSIGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMS    631 - 700
MENPGLWILGCHNSDFRNRGMTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPST    701 - 770
RQKQFNATTIPENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS    771 - 840
PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSSTSNNLISTIPS    841 - 910
DNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEENNDSKLLESGLMNSQESSWG    911 - 980
KNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTNKTSNNSATNRKTHIDGPSLLIENSPSVWQN    981 - 1050
ILESDTEFKKVTPLIHDRMLMDKNATALRLNHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLF   1051 - 1120
LPESARWIQRTHGKNSLNSGQGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSS   1121 - 1190
RNLFLTNLDNLHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD   1191 - 1260
GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNTSQQNFVTQRS   1261 - 1330
KRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKEKGAITQSPLSDCLTRSHSIP   1331 - 1400
QANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASYRKKDSGVQESSHFLQGAKKNNLSLAILTLE   1401 - 1470
MTGDQREVGSLGTSATNSVTYKKVENTVLPKPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLV   1471 - 1540
EGSLLQGTEGAIKWNEANRPGKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTA   1541 - 1610
FKKKDTILSLNACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE   1611 - 1680
IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNRAQSGSVPQFK   1681 - 1750
KVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASRPYSFYSSLISYEEDQRQGAE   1751 - 1820
PRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDVDLEKDVHSGLIGPLLVCHTNTLNPAHGRQV   1821 - 1890
TVQEFALFFTIFDETKSWYFTENMERNCRAPCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIR   1891 - 1960
WYLLSMGSNENIHSIHFSGHVFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMS   1961 - 2030
TLFLVYSNKCQTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII   2031 - 2100
HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFNPPIIARYIRL   2101 - 2170
HPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFATWSPSKARLHLQGRSNAWRP   2171 - 2240
QVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFLISSSQDGHQWTLFFQNGKVKVFQGNQDSFT   2241 - 2310
PVVNSLDPPLLTRYLRIHPQSWVHQIALRMEVLGCEAQDLY                                2311 - 2351
//

Text Mined References (554)

PMID Year Title
27455009 2016 [Detection and genetic counseling of F8 gene inversions for patients with severe hemophilia A].
26897466 2016 F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association.
26653368 2016 Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene.
26598467 2015 Structure of the Human Factor VIII C2 Domain in Complex with the 3E6 Inhibitory Antibody.
26525229 2016 Airway factor XIII associates with type 2 inflammation and airway obstruction in asthmatic patients.
26473492 2015 Factor VIII Is Synthesized in Human Endothelial Cells, Packaged in Weibel-Palade Bodies and Secreted Bound to ULVWF Strings.
26453193 2015 Comparison of platelet-derived and plasma factor VIII efficacy using a novel native whole blood thrombin generation assay.
26383047 2015 Complexity and diversity of F8 genetic variations in the 1000 genomes.
26346528 2015 Membrane Interaction of the Factor VIIIa Discoidin Domains in Atomistic Detail.
26345748 2015 Application of indirect linkage analysis and direct genotyping to hemophilia A carrier detection in Sichuan, China.
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