Property Summary

NCBI Gene PubMed Count 18
PubMed Score 13.23
PubTator Score 18.98

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Expression

  Differential Expression (4)

Disease log2 FC p
group 3 medulloblastoma 2.200 1.3e-05
primitive neuroectodermal tumor 1.600 6.5e-03
pilocytic astrocytoma 2.000 3.9e-08
psoriasis -1.600 4.0e-20

Gene RIF (14)

PMID Text
23265956 an association study showed a potential association of the D19S884 marker with PCOS in Chinese Han women and the meta-analysis identified that the A8 allele may increase susceptibility to PCOS
22301903 The FBN3 risk allele may be associated with changes in basal glucose homeostasis in PCOS.
21411746 Data show that TGF-beta pathways operate during ovarian fetal development, and fibrillin 3 is highly expressed at a critical stage early in developing human and bovine fetal ovaries.
20970500 fibrillin-3, compared to the other fibrillins, fulfills both overlapping and distinct functions in human development
20855553 Loss of fibrillin-3 during folliculogenesis may be an important factor in polycystic ovary syndrome pathogenesis.
20630504 A variant in the fibrillin-3 gene is associated with TGF-beta and inhibin B levels in women with polycystic ovary syndrome.
20630504 Observational study of gene-disease association. (HuGE Navigator)
20200332 Single nucleotide polymorphisms in FBN3 occur and may be a candidate gene for polycystic ovary syndrome.
20200332 Observational study of gene-disease association. (HuGE Navigator)
19692420 Data show that fibrillin 3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs that may influence the PCOS phenotype.
19692420 Observational study of gene-disease association. (HuGE Navigator)
19192405 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17785364 Observational study of gene-disease association. (HuGE Navigator)
17785364 fibrillin-3 gene showed the strongest evidence for association with Polycystic ovary syndrome

AA Sequence

MTLEGLYLARGPLARLLLAWSALLCMAGGQGRWDGALEAAGPGRVRRRGSPGILQGPNVCGSRFHAYCCP      1 - 70
GWRTFPGRSQCVVPICRRACGEGFCSQPNLCTCADGTLAPSCGVSRGSGCSVSCMNGGTCRGASCLCQKG     71 - 140
YTGTVCGQPICDRGCHNGGRCIGPNRCACVYGFMGPQCERDYRTGPCFGQVGPEGCQHQLTGLVCTKALC    141 - 210
CATVGRAWGLPCELCPAQPHPCRRGFIPNIHTGACQDVDECQAVPGLCQGGSCVNMVGSFHCRCPVGHRL    211 - 280
SDSSAACEDYRAGACFSVLFGGRCAGDLAGHYTRRQCCCDRGRCWAAGPVPELCPPRGSNEFQQLCAQRL    281 - 350
PLLPGHPGLFPGLLGFGSNGMGPPLGPARLNPHGSDARGIPSLGPGNSNIGTATLNQTIDICRHFTNLCL    351 - 420
NGRCLPTPSSYRCECNVGYTQDVRGECIDVDECTSSPCHHGDCVNIPGTYHCRCYPGFQATPTRQACVDV    421 - 490
DECIVSGGLCHLGRCVNTEGSFQCVCNAGFELSPDGKNCVDHNECATSTMCVNGVCLNEDGSFSCLCKPG    491 - 560
FLLAPGGHYCMDIDECQTPGICVNGHCTNTEGSFRCQCLGGLAVGTDGRVCVDTHVRSTCYGAIEKGSCA    561 - 630
RPFPGTVTKSECCCANPDHGFGEPCQLCPAKDSAEFQALCSSGLGITTDGRDINECALDPEVCANGVCEN    631 - 700
LRGSYRCVCNLGYEAGASGKDCTDVDECALNSLLCDNGWCQNSPGSYSCSCPPGFHFWQDTEICKDVDEC    701 - 770
LSSPCVSGVCRNLAGSYTCKCGPGSRLDPSGTFCLDSTKGTCWLKIQESRCEVNLQGASLRSECCATLGA    771 - 840
AWGSPCERCEIDPACARGFARMTGVTCDDVNECESFPGVCPNGRCVNTAGSFRCECPEGLMLDASGRLCV    841 - 910
DVRLEPCFLRWDEDECGVTLPGKYRMDVCCCSIGAVWGVECEACPDPESLEFASLCPRGLGFASRDFLSG    911 - 980
RPFYKDVNECKVFPGLCTHGTCRNTVGSFHCACAGGFALDAQERNCTDIDECRISPDLCGQGTCVNTPGS    981 - 1050
FECECFPGYESGFMLMKNCMDVDECARDPLLCRGGTCTNTDGSYKCQCPPGHELTAKGTACEDIDECSLS   1051 - 1120
DGLCPHGQCVNVIGAFQCSCHAGFQSTPDRQGCVDINECRVQNGGCDVHCINTEGSYRCSCGQGYSLMPD   1121 - 1190
GRACADVDECEENPRVCDQGHCTNMPGGHRCLCYDGFMATPDMRTCVDVDECDLNPHICLHGDCENTKGS   1191 - 1260
FVCHCQLGYMVRKGATGCSDVDECEVGGHNCDSHASCLNIPGSFSCRCLPGWVGDGFECHDLDECVSQEH   1261 - 1330
RCSPRGDCLNVPGSYRCTCRQGFAGDGFFCEDRDECAENVDLCDNGQCLNAPGGYRCECEMGFDPTEDHR   1331 - 1400
ACQDVDECAQGNLCAFGSCENLPGMFRCICNGGYELDRGGGNCTDINECADPVNCINGVCINTPGSYLCS   1401 - 1470
CPQDFELNPSGVGCVDTRAGNCFLETHDRGDSGISCSAEIGVGVTRASCCCSLGRAWGNPCELCPMANTT   1471 - 1540
EYRTLCPGGEGFQPNRITVILEDIDECQELPGLCQGGDCVNTFGSFQCECPPGYHLSEHTRICEDIDECS   1541 - 1610
THSGICGPGTCYNTLGNYTCVCPAEYLQVNGGNNCMDMRKSVCFRHYNGTCQNELAFNVTRKMCCCSYNI   1611 - 1680
GQAWNRPCEACPTPISPDYQILCGNQAPGFLTDIHTGKPLDIDECGEIPAICANGICINQIGSFRCECPA   1681 - 1750
GFNYNSILLACEDVDECGSRESPCQQNADCINIPGSYRCKCTRGYKLSPGGACVGRNECREIPNVCSHGD   1751 - 1820
CMDTEGSYMCLCHRGFQASADQTLCMDIDECDRQPCGNGTCKNIIGSYNCLCFPGFVVTHNGDCVDFDEC   1821 - 1890
TTLVGQVCRFGHCLNTAGSFHCLCQDGFELTADGKNCVDTNECLSLAGTCLPGTCQNLEGSFRCICPPGF   1891 - 1960
QVQSDHCIDIDECSEEPNLCLFGTCTNSPGSFQCLCPPGFVLSDNGHRCFDTRQSFCFTRFEAGKCSVPK   1961 - 2030
AFNTTKTRCCCSKRPGEGWGDPCELCPQEGSAAFQELCPFGHGAVPGPDDSREDVNECAENPGVCTNGVC   2031 - 2100
VNTDGSFRCECPFGYSLDFTGINCVDTDECSVGHPCGQGTCTNVIGGFECACADGFEPGLMMTCEDIDEC   2101 - 2170
SLNPLLCAFRCHNTEGSYLCTCPAGYTLREDGAMCRDVDECADGQQDCHARGMECKNLIGTFACVCPPGM   2171 - 2240
RPLPGSGEGCTDDNECHAQPDLCVNGRCVNTAGSFRCDCDEGFQPSPTLTECHDIRQGPCFAEVLQTMCR   2241 - 2310
SLSSSSEAVTRAECCCGGGRGWGPRCELCPLPGTSAYRKLCPHGSGYTAEGRDVDECRMLAHLCAHGECI   2311 - 2380
NSLGSFRCHCQAGYTPDATATTCLDMDECSQVPKPCTFLCKNTKGSFLCSCPRGYLLEEDGRTCKDLDEC   2381 - 2450
TSRQHNCQFLCVNTVGAFTCRCPPGFTQHHQACFDNDECSAQPGPCGAHGHCHNTPGSFRCECHQGFTLV   2451 - 2520
SSGHGCEDVNECDGPHRCQHGCQNQLGGYRCSCPQGFTQHSQWAQCVDENECALSPPTCGSASCRNTLGG   2521 - 2590
FRCVCPSGFDFDQALGGCQEVDECAGRRGPCSYSCANTPGGFLCGCPQGYFRAGQGHCVSGLGFSPGPQD   2591 - 2660
TPDKEELLSSEACYECKINGLSPRDRPRRSAHRDHQVNLATLDSEALLTLGLNLSHLGRAERILELRPAL   2661 - 2730
EGLEGRIRYVIVRGNEQGFFRMHHLRGVSSLQLGRRRPGPGTYRLEVVSHMAGPWGVQPEGQPGPWGQAL   2731 - 2800
RLKVQLQLL                                                                2801 - 2809
//

Text Mined References (19)

PMID Year Title
23265956 2013 Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis.
22301903 2012 Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS.
21411746 2011 Linkage of regulators of TGF-? activity in the fetal ovary to polycystic ovary syndrome.
20970500 2011 Fibrillin-3 expression in human development.
20855553 2010 Fibrillins in adult human ovary and polycystic ovary syndrome: is fibrillin-3 affected in PCOS?
20630504 2010 A variant in the fibrillin-3 gene is associated with TGF-? and inhibin B levels in women with polycystic ovary syndrome.
20200332 2010 Family-based analysis of candidate genes for polycystic ovary syndrome.
19692420 2009 Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.
19192405 2008 [FBN3 gene polymorphisms in adolescent idiopathic scoliosis patients].
17785364 2007 Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype.
15221638 2004 Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.
15203218 2004 Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
15057824 2004 The DNA sequence and biology of human chromosome 19.
14962672 2004 Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11941487 2002 Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.