Property Summary

NCBI Gene PubMed Count 63
PubMed Score 15.56
PubTator Score 55.41

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Megalocornea 15 3.602 1.8

Expression

  Differential Expression (24)

 GWAS Trait (1)

Gene RIF (42)

PMID Text
27293371 The results showed that no deleterious mutations were found in coding regions of LTBP2 in patients with PCG, suggesting that it is not a causal gene for primary congenital glaucoma in the Han Chinese population.
26644005 LTBP-2 and FGF-2 are co-localized in fibrotic human keloid and hypertrophic scar.
26263555 LTBP-2 is a potent inhibitor of FGF-2 that may influence FGF-2 bioactivity during wound repair particularly in fibrotic tissues.
25974126 LTBP2 was able to reduce phosphorylation of p65 at Serine 536, inhibit nuclear localization of active phosphorylated p65, and impair the p65 DNA-binding ability. This results in a consequential down-regulation of p65-related gene expression.
24908666 LTBP-2 is an essential component for the formation of microfibril bundles in ciliary zonules.
24867584 perlecan HS was not essential for latent transforming growth factor-beta-1 binding protein-2 deposition
24803312 Increased plasma levels of LTBP2 and/or OPN are present in plasma up to 2 years prior to diagnosis of hepatocellular carcinoma.
24148803 Overall the results indicate that LTBP-2 may have a negative regulatory role during elastic fiber assembly, perhaps in displacing elastin microassemblies from complexes with fibulin-5 and/or cell surface heparan sulfate proteoglycans.
23401661 Some LTBP2 sequence variations can contribute to the etiology of primary open angle glaucoma (POAG) and pseudoexfoliation (PEX) glaucoma syndrome.
23378721 No pathogenic variants are identified in the LTBP2 gene in a cohort of patients with primary congenital glaucoma.
23218701 This study analyzed CYP1B1, LTBP2, and MYOC mutations in a cohort of primary congenital glaucoma patients from the United States, applying whole exome sequencing
22924778 LTBP2 mutations were not found in the Turkish GLC3C-linked primary congenital glaucoma (PCG) family or in 94 British CYP1B1-negative PCG cases.
22827404 LTBP-2, in response to tension stress, may negatively control the function of fibulin-5, thereby modulating the mechanism of oxytalan fiber coalescence.
22743615 Promoter hypermethylation was found to be involved in LTBP-2 silencing.
22587491 plasma levels of LTBP2 present a novel and powerful predictor of all-cause mortality, and particularly pulmonary death
22539340 LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
22515403 Data show that median level of latent TGF-beta binding protein (LTBP) in myocardial samples from heart failure patients was significantly elevated.
22025892 Novel homozygous mutations in the LTBP-2 gene segregated with the phenotype in each affected consanguineous family cause congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma.
21737283 This study provided evidence that the IL-17A-197 G/A and TGFR-beta2-875 A/G genotype is closely related to hemorrhage risk for patients with brain arteriovenous malformation.
21700711 Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
21698479 A proteomic approach for identification and localization of the pericellular components of chondrocytes
21540769 Demonstrate specific immunolocalization of fibrillin-1, MAGP-1, and LTBP-1 with elastin in the outer annulus fibrosus of the fetal human intravertebral disc.
21081970 Preliminary observations on compounds with mutations in both CYP1B1-LTBP2 suggest that the observed combinations are of no clinical significance and digenic inheritance is unlikely.
21041550 A susceptibility locus was identified on chromosome 14q24.3-31.2. The candidate functional gene is LTBP2. A suggestive linkage for mandibular prognathism in a Han Chinese pedigree.
20617341 Study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens.
20617341 The authors reported that the isolated microspherophakia (MIM 251750) is caused by a mutation in the LTBP2 gene. The results suggested a role for LTBP2 in the growth and development of lens, and structural stability of ciliary zonules.
20587546 Observational study of gene-disease association. (HuGE Navigator)
20424473 Observational study of gene-disease association. (HuGE Navigator)
20198315 Observational study of gene-disease association. (HuGE Navigator)
20179738 Biallelic null LTBP2 mutations cause the ocular phenotype in both families and could lead to Marfan-like features in older children.
19851296 Observational study of gene-disease association. (HuGE Navigator)
19817957 Observational study of gene-disease association. (HuGE Navigator)
19681046 Extracellular matrix association of LTBP-2 in cultured human embryonic lung fibroblasts depends on a pre-formed fibrillin-1 network.
19656777 Loss of function mutations in LTBP2 cause the congenital glaucoma.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19361779 LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone.
19182256 Observational study of gene-disease association. (HuGE Navigator)
18697872 LTBP2 is a novel positional candidate gene in chromosome 14q quantitative trait locos for bone density variation and fracture.
17581631 These results suggest a novel regulatory mechanism of elastic fiber assembly in which LTBP-2 regulates targeting of DANCE on suitable microfibrils to form elastic fibers.
17293099 LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1
15063762 Observational study of gene-disease association. (HuGE Navigator)
12716902 LTBP-2 can play a role in melanoma cell adhesion

AA Sequence

MRPRTKARSPGRALRNPWRGFLPLTLALFVGAGHAQRDPVGRYEPAGGDANRLRRPGGSYPAAAAAKVYS      1 - 70
LFREQDAPVAGLQPVERAQPGWGSPRRPTEAEARRPSRAQQSRRVQPPAQTRRSTPLGQQQPAPRTRAAP     71 - 140
ALPRLGTPQRSGAAPPTPPRGRLTGRNVCGGQCCPGWTTANSTNHCIKPVCEPPCQNRGSCSRPQLCVCR    141 - 210
SGFRGARCEEVIPDEEFDPQNSRLAPRRWAERSPNLRRSSAAGEGTLARAQPPAPQSPPAPQSPPAGTLS    211 - 280
GLSQTHPSQQHVGLSRTVRLHPTATASSQLSSNALPPGPGLEQRDGTQQAVPLEHPSSPWGLNLTEKIKK    281 - 350
IKIVFTPTICKQTCARGHCANSCERGDTTTLYSQGGHGHDPKSGFRIYFCQIPCLNGGRCIGRDECWCPA    351 - 420
NSTGKFCHLPIPQPDREPPGRGSRPRALLEAPLKQSTFTLPLSNQLASVNPSLVKVHIHHPPEASVQIHQ    421 - 490
VAQVRGGVEEALVENSVETRPPPWLPASPGHSLWDSNNIPARSGEPPRPLPPAAPRPRGLLGRCYLNTVN    491 - 560
GQCANPLLELTTQEDCCGSVGAFWGVTLCAPCPPRPASPVIENGQLECPQGYKRLNLTHCQDINECLTLG    561 - 630
LCKDAECVNTRGSYLCTCRPGLMLDPSRSRCVSDKAISMLQGLCYRSLGPGTCTLPLAQRITKQICCCSR    631 - 700
VGKAWGSECEKCPLPGTEAFREICPAGHGYTYASSDIRLSMRKAEEEELARPPREQGQRSSGALPGPAER    701 - 770
QPLRVVTDTWLEAGTIPDKGDSQAGQVTTSVTHAPAWVTGNATTPPMPEQGIAEIQEEQVTPSTDVLVTL    771 - 840
STPGIDRCAAGATNVCGPGTCVNLPDGYRCVCSPGYQLHPSQAYCTDDNECLRDPCKGKGRCINRVGSYS    841 - 910
CFCYPGYTLATSGATQECQDINECEQPGVCSGGQCTNTEGSYHCECDQGYIMVRKGHCQDINECRHPGTC    911 - 980
PDGRCVNSPGSYTCLACEEGYRGQSGSCVDVNECLTPGVCAHGKCTNLEGSFRCSCEQGYEVTSDEKGCQ    981 - 1050
DVDECASRASCPTGLCLNTEGSFACSACENGYWVNEDGTACEDLDECAFPGVCPSGVCTNTAGSFSCKDC   1051 - 1120
DGGYRPSPLGDSCEDVDECEDPQSSCLGGECKNTVGSYQCLCPQGFQLANGTVCEDVNECMGEEHCAPHG   1121 - 1190
ECLNSHGSFFCLCAPGFVSAEGGTSCQDVDECATTDPCVGGHCVNTEGSFNCLCETGFQPSPESGECVDI   1191 - 1260
DECEDYGDPVCGTWKCENSPGSYRCVLGCQPGFHMAPNGDCIDIDECANDTMCGSHGFCDNTDGSFRCLC   1261 - 1330
DQGFEISPSGWDCVDVNECELMLAVCGAALCENVEGSFLCLCASDLEEYDAQEGHCRPRGAGGQSMSEAP   1331 - 1400
TGDHAPAPTRMDCYSGQKGHAPCSSVLGRNTTQAECCCTQGASWGDACDLCPSEDSAEFSEICPSGKGYI   1401 - 1470
PVEGAWTFGQTMYTDADECVIFGPGLCPNGRCLNTVPGYVCLCNPGFHYDASHKKCEDHDECQDLACENG   1471 - 1540
ECVNTEGSFHCFCSPPLTLDLSQQRCMNSTSSTEDLPDHDIHMDICWKKVTNDVCSEPLRGHRTTYTECC   1541 - 1610
CQDGEAWSQQCALCPPRSSEVYAQLCNVARIEAEREAGVHFRPGYEYGPGPDDLHYSIYGPDGAPFYNYL   1611 - 1680
GPEDTVPEPAFPNTAGHSADRTPILESPLQPSELQPHYVASHPEPPAGFEGLQAEECGILNGCENGRCVR   1681 - 1750
VREGYTCDCFEGFQLDAAHMACVDVNECDDLNGPAVLCVHGYCENTEGSYRCHCSPGYVAEAGPPHCTAK   1751 - 1820
E//

Text Mined References (62)

PMID Year Title
27293371 2016 Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.
26644005 2016 Co-localization of LTBP-2 with FGF-2 in fibrotic human keloid and hypertrophic scar.
26263555 2015 LTBP-2 Has a Single High-Affinity Binding Site for FGF-2 and Blocks FGF-2-Induced Cell Proliferation.
25974126 2015 NF-?B p65 Subunit Is Modulated by Latent Transforming Growth Factor-? Binding Protein 2 (LTBP2) in Nasopharyngeal Carcinoma HONE1 and HK1 Cells.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
24908666 2014 Latent TGF-? binding protein-2 is essential for the development of ciliary zonule microfibrils.
24867584 2014 Confocal microscopy demonstrates association of LTBP-2 in fibrillin-1 microfibrils and colocalisation with perlecan in the disc cell pericellular matrix.
24803312 2015 Osteopontin and latent-TGF ? binding-protein 2 as potential diagnostic markers for HBV-related hepatocellular carcinoma.
24148803 2014 LTBP-2 competes with tropoelastin for binding to fibulin-5 and heparin, and is a negative modulator of elastinogenesis.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23401661 2013 Contribution of the latent transforming growth factor-? binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.
23378721 2013 Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23218701 2013 CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
22924778 LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.
22827404 2012 Latent transforming growth factor-? binding protein 2 negatively regulates coalescence of oxytalan fibers induced by stretching stress.
22743615 2012 LTBP-2 confers pleiotropic suppression and promotes dormancy in a growth factor permissive microenvironment in nasopharyngeal carcinoma.
22587491 2012 The novel marker LTBP2 predicts all-cause and pulmonary death in patients with acute dyspnoea.
22539340 2012 LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
22515403 2012 LTBP-2 acts as a novel marker in human heart failure - a preliminary study.
22025892 2011 Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.
21737283 2011 Susceptible gene single nucleotide polymorphism and hemorrhage risk in patients with brain arteriovenous malformation.
21700711 2011 Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
21698479 2011 A proteomic approach for identification and localization of the pericellular components of chondrocytes.
21540769 2011 Comparative immunolocalization of the elastin fiber-associated proteins fibrillin-1, LTBP-2, and MAGP-1 with components of the collagenous and proteoglycan matrix of the fetal human intervertebral disc.
21362503 2011 Protein profile of exosomes from trabecular meshwork cells.
21081970 2011 LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
21041550 2011 The identification of a novel locus for mandibular prognathism in the Han Chinese population.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20617341 2010 A homozygous mutation in LTBP2 causes isolated microspherophakia.
20587546 2010 Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20424473 2010 L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
20382221 2010 LTBP-2 has multiple heparin/heparan sulfate binding sites.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
20179738 2010 LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19817957 2009 Secreted protein acidic and rich in cysteine (SPARC) gene polymorphism association with hepatocellular carcinoma in Italian patients.
19681046 2009 Matrix association of latent TGF-beta binding protein-2 (LTBP-2) is dependent on fibrillin-1.
19656777 2009 Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19361779 2009 Null mutations in LTBP2 cause primary congenital glaucoma.
19182256 2009 Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
18697872 2008 Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association.
17581631 2007 Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17293099 2007 LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein.
15063762 2004 Genetic variations in humans associated with differences in the course of hepatitis C.
12716902 2003 Latent transforming growth factor-beta-binding protein 2 is an adhesion protein for melanoma cells.
12508121 2003 The DNA sequence and analysis of human chromosome 14.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11870232 2002 Identification of genes with higher expression in human uterine leiomyomas than in the corresponding myometrium.
11104663 2000 The latent transforming growth factor beta binding protein (LTBP) family.
10930463 2000 Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.
10743502 1999 Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action.
9709808 1998 Extracellular matrix-associated transforming growth factor-beta: role in cancer cell growth and invasion.
9685426 1998 Recombinant latent transforming growth factor beta-binding protein 2 assembles to fibroblast extracellular matrix and is susceptible to proteolytic processing and release.
9150447 1997 Latent transforming growth factor-beta: structural features and mechanisms of activation.
8964588 1996 Transforming growth factors-beta s: a multifunctional cytokine family. Implication in the regulation of adrenocortical cell endocrine functions.
8697098 1996 Analysis of the human gene encoding latent transforming growth factor-beta-binding protein-2.
7798248 1994 Identification and characterization of LTBP-2, a novel latent transforming growth factor-beta-binding protein.
7719025 1995 Mapping of human and murine genes for latent TGF-beta binding protein-2 (LTBP2).