Property Summary

NCBI Gene PubMed Count 42
PubMed Score 46.20
PubTator Score 38.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Protein-protein Interaction (6)

Gene RIF (19)

PMID Text
25885889 Data indicates that Fibulin-4 is a novel gene that is found overexpressed in ovarian cancer and associated with poor prognostic clinicopathologic features.
25255451 pulmonary emphysema in aneurysmal Fibulin-4 deficient (Fibulin-4(R)) mice
24838734 Homozygous mutations in exon 7 of the FBLN4 gene can produce lethal vasculopathy.
24737201 This study demonstrated that fibulin-4 may serve as a new prognostic factor and as a potential therapeutic target for patients with cervical carcinoma.
23782690 Solid phase binding assays detected strong calcium-dependent binding of the short fibulins to immobilized heparin, suggesting that these fibulins may bind cell surface-located heparan sulfate
23518852 Studied Fibulin-4 expression in aortic wall to find out its role in aortic dissection development. Used samples of aortic wall from 10 patients operated for acute ascending aortic dissection and five patients for chronic ascending aortic dissection.
23313295 Low EFEMP2 expression is associated with malignant pleural mesothelioma.
22943132 A lethal, genetic disorder characterized by severe deformation of elastic arteries, was linked to novel mutations in the FBLN4 gene.
22919265 EFEMP2 is a novel PITX2-interacting protein that may bear importance for the development of anterior segment dysgenesis (ASD) and glaucoma.
22829427 Data indicate mutations of FBLN4, FBLN5, and LTBP4 in 12 probands presenting with type 1 recessive cutis laxa.
22506683 The expression level of EFEMP2 is dramatically increased in colorectal cancer patients, even at the early stage, compared with healthy controls.
22440127 In this largest cohort of reported patients with a mutated EFEMP2 gene, we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation.
22070778 FBLN4 has 10 coding exons
20588308 Observational study of gene-disease association. (HuGE Navigator)
20389311 patients with recessive FBLN4 mutations are predominantly characterized by aortic aneurysms, arterial tortuosity and stenosis; evidence for the involvement of altered TGFbeta signaling in the pathogenesis of FBLN4 mutations
19627254 Fibulin-4, considered as a structural protein, may also participate in regulating elastic-fibre formation in human cells through the regulation of tropoelastin expression.
19570982 fibulin-5 controlled elastin deposition on microfibrils, although fibulin-4 can also bind fibrillin-1.
17255108 ternary complex formation between fibrillin-1, fibulins, and tropoelastin demonstrated that fibulin-2 and -5 but much less fibulin-4, are able to act as molecular adaptors between fibrillin-1 and tropoelastin
16493080 Fibulin-4, expressed in chondrocytes and recognized as an autoantigen mainly in osteoarthritis (OA) rather than in rheumatoid arthritis, may play pathogenic roles in OA.

AA Sequence

MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMK      1 - 70
CINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDC     71 - 140
HNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMG    141 - 210
APCEQRCFNSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRL    211 - 280
CQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTI    281 - 350
TSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTM    351 - 420
NSLMSYRASSVLRLTVFVGAYTF                                                   421 - 443
//

Text Mined References (44)

PMID Year Title
25885889 2015 Fibulin-4 is associated with tumor progression and a poor prognosis in ovarian carcinomas.
25416956 2014 A proteome-scale map of the human interactome network.
25255451 2014 Extracellular matrix defects in aneurysmal Fibulin-4 mice predispose to lung emphysema.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24838734 2014 Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.
24769233 2014 Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset.
24737201 2014 Overexpression of fibulin-4 is associated with tumor progression and poor prognosis in patients with cervical carcinoma.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23782690 2013 Fibulin-3, -4, and -5 are highly susceptible to proteolysis, interact with cells and heparin, and form multimers.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23518852 2014 Decreased expression of fibulin-4 in aortic wall of aortic dissection.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23313295 2013 Gene expression profile of aquaporin 1 and associated interactors in malignant pleural mesothelioma.
23088713 2012 Protein interactions of the transcription factor Hoxa1.
22943132 2012 Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
22919265 2012 Yeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein.
22829427 2013 Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.
22506683 2012 Identification of EFEMP2 as a serum biomarker for the early detection of colorectal cancer with lectin affinity capture assisted secretome analysis of cultured fresh tissues.
22440127 2012 Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
22070778 Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutation.
20588308 2010 Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
20389311 2010 Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency.
19664000 2009 Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
19627254 2009 Fibulin-4 regulates expression of the tropoelastin gene and consequent elastic-fibre formation by human fibroblasts.
19570982 2009 Differential regulation of elastic fiber formation by fibulin-4 and -5.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
17937443 2007 Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
17255108 2007 Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16685658 2006 Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16493080 2006 Fibulin-4 is a target of autoimmunity predominantly in patients with osteoarthritis.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107411 2002 Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts.
11231014 2001 Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues.
10982184 2000 Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
10601734 1999 Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4.
10380882 1999 MBP1: a novel mutant p53-specific protein partner with oncogenic properties.