Property Summary

NCBI Gene PubMed Count 56
Grant Count 69
R01 Count 43
Funding $8,090,289.01
PubMed Score 275.62
PubTator Score 175.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (20)

Synonym

Accession P35556 B4DU01 Q59ES6
Symbols CCA
DA9
EOMD

Gene

Gene RIF (30)

PMID Text
25975422 The presence of the splice site mutation in FBN2 gene has been confirmed in a Japanese family with congenital contractural arachnodactyly complicated with aortic dilatation and dissection.
25429546 DNA sequence variation within the FBN2 gene is associated with both Achilles tendon (AT) and anterior cruciate ligament (ACL) rupture.
24899048 Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
24833718 we demonstrate an important role for FBN1 and FBN2 in AIS pathogenesis. We show that rare variants are enriched in severely affected AIS patients and are significantly associated with curve severity.
23133647 Fibrillin mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
23060561 There was no association of overall methylation of FBN2 in the serum DNA with age, maximal tumor size, extent of tumor, tumor site, histology, presence of lymph node metastasis, distant metastasis, or Dukes' stage.
22190034 HIV-1 Tat is identified to have a physical interaction with fibrillin 2 (FBN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21851253 These results suggest that both fibrillin-1 and fibrillin-2 are essential for the formation of thick oxytalan fibers in the ciliary zonule.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20404337 Data demonstrated that N-terminal fibrillin-2 epitopes are masked in postnatal microfibrils.
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AA Sequence

MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLAPEYREEGAAV      1 - 70
ASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCGDGFCSRPNMCTCSSGQISST     71 - 140
CGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVCENGCQNGGRCIGPNRCACVYGFTGPQCERD    141 - 210
YRTGPCFTQVNNQMCQGQLTGIVCTKTLCCATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDEC    211 - 280
QAIPGICQGGNCINTVGSFECRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYV    281 - 350
TSTDGSRCIDQRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDG    351 - 420
LPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGGQGPIITGLTI    421 - 490
LNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECTSNPCTNGDCVNTPGSYYCKC    491 - 560
HAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQCICNAGFELTTDGKNCVDHDECTTTNMCLNG    561 - 630
MCINEDGSFKCICKPGFVLAPNGRYCTDVDECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDT    631 - 700
HMRSTCYGGIKKGVCVRPFPGAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDIN    701 - 770
ECALDPDICANGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPG    771 - 840
YVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWLNIQDSRCEVN    841 - 910
INGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECEVFPGVCPNGRCVNSKGSFHC    911 - 980
ECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKFRMDACCCAVGAAWGTECEECPKPGTKEYET    981 - 1050
LCPRGAGFANRGDVLTGRPFYKDINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECR   1051 - 1120
ISPDLCGSGICVNTPGSFECECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHE   1121 - 1190
LSPSREDCVDINECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNS   1191 - 1260
EGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDMKTCIDVNECD   1261 - 1330
LNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDMHASCLNIPGSFKCSCREGWI   1331 - 1400
GNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGFTGDGFTCSDVDECAENINLCENGQCLNVPG   1401 - 1470
AYRCECEMGFTPASDSRSCQDIDECSFQNICVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPI   1471 - 1540
NCVNGLCVNTPGRYECNCPPDFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSL   1541 - 1610
GKAWGNPCETCPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQG   1611 - 1680
YYLSEDTRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFCYRSYNGTTCE   1681 - 1750
NELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFDIHTGKAVDIDECKEIPGICA   1751 - 1820
NGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNLCQRNADCINSPGSYRCECAAGFKLSPNGAC   1821 - 1890
VDRNECLEIPNVCSHGLCVDLQGSYQCICHNGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCY   1891 - 1960
PGFELTHNNDCLDIDECSSFFGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPG   1961 - 2030
TCQNLEGSFRCICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCLCPPGFVLSDNGRRCFDTR   2031 - 2100
QSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHGTVPSLHDTRE   2101 - 2170
DVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIGNPCGNGTCTNVIGSFECNCN   2171 - 2240
EGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCPIGYALREDQKMCKDLDECAEGLHDCESRGM   2241 - 2310
MCKNLIGTFMCICPPGMARRPDGEGCVDENECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLD   2311 - 2380
NRQGLCFAEVLQTICQMASSSRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDI   2381 - 2450
DECKVMPNLCTNGQCINTMGSFRCFCKVGYTTDISGTSCIDLDECSQSPKPCNYICKNTEGSYQCSCPRG   2451 - 2520
YVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPSLCGAKGICQN   2521 - 2590
TPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCPQGYIQHYQWNQCVDENECSN   2591 - 2660
PNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECSSSKNPCNYGCSNTEGGYLCGCPPGYYRVGQ   2661 - 2730
GHCVSGMGFNKGQYLSLDTEVDEENALSPEACYECKINGYSKKDSRQKRSIHEPDPTAVEQISLESVDMD   2731 - 2800
SPVNMKFNLSHLGSKEHILELRPAIQPLNNHIRYVISQGNDDSVFRIHQRNGLSYLHTAKKKLMPGTYTL   2801 - 2870
EITSIPLYKKKELKKLEESNEDDYLLGELGEALRMRLQIQLY                               2871 - 2912
//

Text Mined References (64)

PMID Year Title
27196565 2016 Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing.
26601954 2016 Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation.
25975422 2015 Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: Case report and review of literature.
25834781 2015 A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.
25429546 2015 ELN and FBN2 gene variants as risk factors for two sports-related musculoskeletal injuries.
25406291 2014 Human eye development is characterized by coordinated expression of fibrillin isoforms.
25130324 2014 A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
25034023 2014 Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assembly.
24899048 2014 Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
24833718 2014 Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
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