Property Summary

NCBI Gene PubMed Count 30
PubMed Score 852.96
PubTator Score 18.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
glioblastoma multiforme 347 1.99494982332858E-24
pilocytic astrocytoma 3086 8.91656497754983E-10
ovarian cancer 8492 5.02836518226229E-8
psoriasis 6685 8.05149313473456E-6
pediatric high grade glioma 2712 3.71216498162025E-5
lung adenocarcinoma 2714 4.89525840718977E-5
atypical teratoid / rhabdoid tumor 4369 3.61644637368996E-4
cystic fibrosis 1670 4.76267873693676E-4
ependymoma 2514 0.0027296784908094
oligodendroglioma 2849 0.00358684904487817
primary pancreatic ductal adenocarcinoma 1271 0.00393794886820379
astrocytoma 1493 0.00442055149634654
pancreatic cancer 2300 0.00901258698550738
Multiple myeloma 1328 0.00906949376815342
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0138739895005193
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.0189177254117848
Common variable immunodeficiency 98 0.0245610802105412
osteosarcoma 7933 0.0309798476339695
chronic lymphocytic leukemia 244 0.0446282837754057
Disease Target Count Z-score Confidence
Amelogenesis imperfecta 26 0.0 4.0
Disease Target Count
Dental anomalies and short stature 1

Expression

Synonym

Accession Q9NS15 O15107 Q96HB9 Q9H7K2 Q9UFN4 LTBP-3
Symbols DASS
LTBP2
LTBP-3
STHAG6
pp6425

Gene

  Ortholog (9)

 CSPA Cell Line (4)

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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