Property Summary

NCBI Gene PubMed Count 325
Grant Count 345
R01 Count 189
Funding $53,413,183.19
PubMed Score 1134.62
PubTator Score 923.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (70)

Disease Z-score Confidence
Marfan Syndrome 14 7.013 3.5
Weill-Marchesani syndrome 14 6.217 3.1
Loeys-Dietz syndrome 23 6.056 3.0
Aortic aneurysm 34 5.652 2.8
Connective tissue disease 59 5.325 2.7
Rheumatic disease 9 4.44 2.2
Heart disease 279 4.275 2.1
Cutis laxa 28 4.214 2.1
Lens subluxation 9 4.107 2.1
Myopia 99 4.033 2.0
Glaucoma 134 3.959 2.0
Homocystinuria 23 3.42 1.7
Diaphragmatic eventration 7 3.399 1.7
Hypertrichosis 23 3.253 1.6
Bullous keratopathy 7 3.241 1.6
Iris disease 9 3.188 1.6
Pulmonary emphysema 34 3.175 1.6
Tracheal stenosis 18 3.175 1.6
Acromicric Dysplasia 4
Aortic Aneurysm, Thoracic 6
Aortic Rupture 5
Arachnodactyly 2
Atopic dermatitis 944
Becker muscular dystrophy 187
Breast cancer 3,094
Carcinoma 2,147 1.0
Congenital aneurysm of ascending aorta 3
Duchenne muscular dystrophy 602
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DO... 1 
Ectopia Lentis 2
Ectopia lentis isolated 1
Endometriosis 535
GELEOPHYSIC DYSPLASIA 2 1
GEMSS syndrome 1
Geleophysic dysplasia 2
Hyperglycemia 120
Hyperinsulinism 63
OVERLAP CONNECTIVE TISSUE DISEASE 1
Shprintzen-Goldberg syndrome 3
Stiff Skin Syndrome 1
Thoracic aortic aneurysm 12 5.0
Weill-Marchesani Syndrome, Autosomal Dom... 1 
acute myeloid leukemia 780
aldosterone-producing adenoma 664
atypical teratoid / rhabdoid tumor 4,369
diabetes mellitus 1,663
ductal carcinoma in situ 1,745
ependymoma 2,514
fascioscapulohumeral muscular dystrophy 100
gastric carcinoma 832
glioblastoma 5,572
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung carcinoma 2,844
malignant mesothelioma 3,162
nasopharyngeal carcinoma 1,056
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pilocytic astrocytoma 3,086
pituitary cancer 1,972
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
psoriasis 6,685
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287
ulcerative colitis 2,087

Expression

Synonym

Accession P35555 B2RUU0 D2JYH6 Q15972 Q75N87
Symbols FBN
SGS
WMS
MASS
MFLS
MFS1
OCTD
SSKS
WMS2
ACMICD
ECTOL1
GPHYSD2

Gene

PDB

1APJ   1EMN   1EMO   1LMJ   1UZJ   1UZK   1UZP   1UZQ   2M74   2W86  

Gene RIF (257)

PMID Text
27026396 New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
26875674 The R2726W FBN1 variant is associated with skeletal features of Marfan syndrome.
26694617 Data suggest that fibrillin-1 and ATP1B3 are binding partners of BST-2; fibrillin-1 (unlike ATP1B3) restricts of HIV-1 replication in a mechanism independent of BST-2.
26684006 Data indicate that abnormal fibrillin-1 (FBN1) transcripts were indicated in fibroblasts from patients with the splice site mutation c.4817-2delA and the missense mutation c.A4925G.
26601954 Data suggest that MFAP4 (microfibrillar-associated protein 4) binds tropoelastin, fibrillin-1/-2, and elastin cross-linking amino acid desmosine; MFAP4 co-localizes with fibrillin-1-positive fibers; MFAP4 promotes tropoelastin self-assembly.
26471116 This is the first report of ophthalmoplegia in association with stiff skin syndrome.
26410935 New FBN1 mutations in Russian Marfan syndrome patients
26281765 The review discuss FBN1 point mutations on the structure and function of the protein associated with Marfan syndrome in affected patients impairing protein folding and traficking, secretion, proteolysis or heparin binding.
26272055 Also, expansion of the mutation spectrum in FBN1 will be helpful in genetic counselling for Chinese patients with STAAD.
25979247 These results suggest fundamental differences in the dominant pathogenic mechanisms underlying Marfan syndrome , stiff skin syndrome and the acromelic dysplasias, which give rise to TGFbeta dysregulation associated with these diseases.
More...

AA Sequence

MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPG      1 - 70
WKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCNIRCMNGGSCSDDHCLCQKGY     71 - 140
IGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERDYRTGPCFTVISNQMCQGQLSGIVCTKTLCC    141 - 210
ATVGRAWGHPCEMCPAQPHPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLN    211 - 280
EVSQKCEDIDECSTIPGICEGGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLP    281 - 350
QSITKMQCCCDAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFP    351 - 420
PGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSCRCECNKGFQLDLRGECID    421 - 490
VDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRICNNGRCINTDGSFHCVCNAG    491 - 560
FHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKPGFQLASDGRYCKDINECETPGICMNGRCVN    561 - 630
TDGSYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCP    631 - 700
AQNSAEYQALCSSGPGMTSAGSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECV    701 - 770
LNSLLCDNGQCRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDP    771 - 840
TKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGYSRIKGTQCED    841 - 910
IDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFLRYEDEECTLPIAGRHRMDAC    911 - 980
CCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEITNGKPFFKDINECKMIPSLCTHGKCRNTIGS    981 - 1050
FKCRCDSGFALDSEERNCTDIDECRISPDLCGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRD   1051 - 1120
PLLCRGGVCHNTEGSYRCECPPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTP   1121 - 1190
DRLFCVDIDECSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGE   1191 - 1260
YRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGCTDINECEIGA   1261 - 1330
HNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADCKNTMGSYRCLCKEGYTGDGF   1331 - 1400
TCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSADGKACEDIDECSLPNICVFGTCHNLPGLFRC   1401 - 1470
ECEIGYELDRSGGNCTDVNECLDPTTCISGNCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRP   1471 - 1540
RGDNGDTACSNEIGVGVSKASCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDEC   1541 - 1610
QELPGLCQGGKCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQ   1611 - 1680
VNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPSTDEFATLCGS   1681 - 1750
QRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYNDKLLVCEDIDECQNGPVCQR   1751 - 1820
NAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNICSHGQCIDTVGSFYCLCHTGFKTNDDQTMCL   1821 - 1890
DINECERDACGNGTCRNTIGSFNCRCNHGFILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNE   1891 - 1960
GYEVAPDGRTCVDINECLLEPRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCS   1961 - 2030
NTEGSFKCLCPEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCP   2031 - 2100
TEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILAGNECVDTDEC   2101 - 2170
SVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFRCVNTYGSYECKCPVGYVLRE   2171 - 2240
DRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGYQRRPDGEGCVDENECQTKPGICENGRCLNT   2241 - 2310
RGSYTCECNDGFTASPNQDECLDNREGYCFTEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPF   2311 - 2380
QGTVAFKKLCPHGRGFMTNGADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQ   2381 - 2450
APKPCNFICKNTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHT   2451 - 2520
SCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHGCQNIIGGYRC   2521 - 2590
SCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYEQFSGGCQDINECGSAQAPCS   2591 - 2660
YGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPPVSGEMDDNSLSPEACYECKINGYPKRGRKR   2661 - 2730
RSTNETDASNIEDQSETEANVSLASWDVEKTAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNE   2731 - 2800
DGFFKINQKEGISYLHFTKKKPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLL   2801 - 2870
H//

Text Mined References (339)

PMID Year Title
27087445 2016 Asprosin, a Fasting-Induced Glucogenic Protein Hormone.
27026396 2016 New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies.
26875674 2016 Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.
26860060 2016 Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized fibrillinopathy.
26694617 2016 ATP1B3 Protein Modulates the Restriction of HIV-1 Production and Nuclear Factor ? Light Chain Enhancer of Activated B Cells (NF-?B) Activation by BST-2.
26684006 2015 Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
26601954 2016 Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation.
26471116 2016 The ocular phenotype of stiff-skin syndrome.
26410935 2015 [Clinical and Genetic Characteristics of Russian Marfan Patients].
26281765 Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels.
More...