Property Summary

NCBI Gene PubMed Count 30
Grant Count 37
R01 Count 27
Funding $4,134,402.93
PubMed Score 852.96
PubTator Score 18.61

Knowledge Summary

Patent

No data available

Expression

Gene RIF (12)

PMID Text
25899461 New recessive truncating mutation in LTBP3 has been described in a family with oligodontia, short stature, and mitral valve prolapse.
25669657 Phenotype-genotype correlations between LTBP3 mutations and families with brachyolmia with amelogenesis imperfecta.
25187517 the mechanism of transcriptional activation of LTBP3 promoter depends on MALAT1 initiated from neighboring gene LTBP3 and involves both the direct interaction of the Sp1 and promoter-specific activation
21700711 Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
20587546 Observational study of gene-disease association. (HuGE Navigator)
19897194 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19344874 homozygous nonsense mutation, Y774X, in a consanguineous Pakistani family where oligodontia is inherited along with short stature in an autosomal-recessive fashion
18672106 Data show that LTBP-3 play an important regulatory role in TGF-beta activation and autocrine growth control in mesenchymal stem cells.
16223572 stimulation of transcriptional activity of promoter is stimulated by TGF-beta 1
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AA Sequence

MPGPRGAAGGLAPEMRGAGAAGLLALLLLLLLLLLGLGGRVEGGPAGERGAGGGGALARERFKVVFAPVI      1 - 70
CKRTCLKGQCRDSCQQGSNMTLIGENGHSTDTLTGSGFRVVVCPLPCMNGGQCSSRNQCLCPPDFTGRFC     71 - 140
QVPAGGAGGGTGGSGPGLSRTGALSTGALPPLAPEGDSVASKHAIYAVQVIADPPGPGEGPPAQHAAFLV    141 - 210
PLGPGQISAEVQAPPPVVNVRVHHPPEASVQVHRIESSNAESAAPSQHLLPHPKPSHPRPPTQKPLGRCF    211 - 280
QDTLPKQPCGSNPLPGLTKQEDCCGSIGTAWGQSKCHKCPQLQYTGVQKPGPVRGEVGADCPQGYKRLNS    281 - 350
THCQDINECAMPGVCRHGDCLNNPGSYRCVCPPGHSLGPSRTQCIADKPEEKSLCFRLVSPEHQCQHPLT    351 - 420
TRLTRQLCCCSVGKAWGARCQRCPTDGTAAFKEICPAGKGYHILTSHQTLTIQGESDFSLFLHPDGPPKP    421 - 490
QQLPESPSQAPPPEDTEEERGVTTDSPVSEERSVQQSHPTATTTPARPYPELISRPSPPTMRWFLPDLPP    491 - 560
SRSAVEIAPTQVTETDECRLNQNICGHGECVPGPPDYSCHCNPGYRSHPQHRYCVDVNECEAEPCGPGRG    561 - 630
ICMNTGGSYNCHCNRGYRLHVGAGGRSCVDLNECAKPHLCGDGGFCINFPGHYKCNCYPGYRLKASRPPV    631 - 700
CEDIDECRDPSSCPDGKCENKPGSFKCIACQPGYRSQGGGACRDVNECAEGSPCSPGWCENLPGSFRCTC    701 - 770
AQGYAPAPDGRSCLDVDECEAGDVCDNGICSNTPGSFQCQCLSGYHLSRDRSHCEDIDECDFPAACIGGD    771 - 840
CINTNGSYRCLCPQGHRLVGGRKCQDIDECSQDPSLCLPHGACKNLQGSYVCVCDEGFTPTQDQHGCEEV    841 - 910
EQPHHKKECYLNFDDTVFCDSVLATNVTQQECCCSLGAGWGDHCEIYPCPVYSSAEFHSLCPDGKGYTQD    911 - 980
NNIVNYGIPAHRDIDECMLFGSEICKEGKCVNTQPGYECYCKQGFYYDGNLLECVDVDECLDESNCRNGV    981 - 1050
CENTRGGYRCACTPPAEYSPAQRQCLSPEEMDVDECQDPAACRPGRCVNLPGSYRCECRPPWVPGPSGRD   1051 - 1120
CQLPESPAERAPERRDVCWSQRGEDGMCAGPLAGPALTFDDCCCRQGRGWGAQCRPCPPRGAGSHCPTSQ   1121 - 1190
SESNSFWDTSPLLLGKPPRDEDSSEEDSDECRCVSGRCVPRPGGAVCECPGGFQLDASRARCVDIDECRE   1191 - 1260
LNQRGLLCKSERCVNTSGSFRCVCKAGFARSRPHGACVPQRRR                              1261 - 1303
//

Text Mined References (31)

PMID Year Title
25899461 2015 New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
25669657 2015 Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
25187517 2014 Activation of LTBP3 gene by a long noncoding RNA (lncRNA) MALAT1 transcript in mesenchymal stem cells from multiple myeloma.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
21700711 2011 Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
20708005 2010 Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
20587546 2010 Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.
19897194 2010 Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of Abdominal Aortic Aneurysm.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
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