Property Summary

NCBI Gene PubMed Count 69
PubMed Score 253.99
PubTator Score 98.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma -4.300 2.5e-08
psoriasis -1.500 6.3e-07
osteosarcoma 2.528 2.1e-03
cystic fibrosis 1.460 2.9e-05
intraductal papillary-mucinous adenoma (... -1.200 9.6e-05
intraductal papillary-mucinous carcinoma... -1.200 6.0e-04
intraductal papillary-mucinous neoplasm ... -1.400 1.1e-03
colon cancer 1.300 2.6e-03
lung cancer 2.000 9.0e-06
interstitial cystitis -2.000 3.7e-06
lung adenocarcinoma -1.200 1.8e-16
inflammatory breast cancer -1.600 2.4e-02
lung carcinoma -1.200 1.5e-09
non-small cell lung carcinoma -1.100 1.6e-22
invasive ductal carcinoma 1.200 1.9e-02
ovarian cancer -1.300 6.8e-05

 GO Component (1)

 GWAS Trait (1)

Gene RIF (48)

PMID Text
25743805 Overexpression of Tbx3 is associated with pancreatic carcinoma.
25455105 TBX3 gene variants may contribute to indirect inguinal hernia as a rare risk factor by reducing TBX3 levels
25394776 this new molecular-grade based on the combination of TBX2 and TBX3 methylation is an excellent marker for predicting progression to muscle-invasive bladder cancer in patients with primary pTaG1/2 bladder cancer.
25371204 Data show that the down-regulation of T-box transcription factor TBX2 by transforming growth factor beta I (TGF-beta1) is mediated by T-box transcription factor TBX3.
25350852 Paracrine WNT signaling is stimulated by estrogen and progesterone, while autocrine WNT signaling is induced by the embryonic T-box transcription factor TBX3
25158279 An enhancement in TBX3 protein expression both in glomerular and tubular regions.
24675841 The pleiotropic effects of TBX3 mutations in humans and mice likely result from disrupting at least two molecular functions of this protein: transcriptional regulation and pre-mRNA splicing.
24386373 Polymorphisms in several genes involved in the Wnt signaling pathway were associated with hepatic fibrosis or inflammation risk in HCV-infected males.
24098938 TBX3 may play an important role as a reciprocal switch between substrate dependent cell proliferation and tumour invasion.
24025717 TBX3 plays a pivotal role in mediating the antiproliferative and promigratory role of TGF-beta1 in breast epithelial cells and skin keratinocytes.
23656610 TBX3 exon 2 mutation is rare in most human tumors
23388722 Coimmunoprecipitations and immunofluorescence analyses confirmed the L2-TBX2 interaction and revealed that human papillomavirus 16 L2 also interacts with human TBX3, another member of the T-box family.
23266556 TBX3 gene polymorphism is associated in the development of colorectal cancers.
23190890 Oncogenic B-RAF(V600E) signaling induces the T-Box3 transcriptional repressor to repress E-cadherin and enhance melanoma cell invasion.
23116943 the sequence variants within the TBX3 gene promoter did not contribute to VSD etiology.
23082988 Data show that Tbx3 is up-regulated in tissue samples of head and neck squamous cell cancer (HNSCC) patients and that Tbx3 represses PTEN transcription.
22865636 TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner.
22284968 TBX3 CPG island methylation predicts progression in bladder cancer.
22154512 Tbx3 overexpression promotes squamous carcinoma cell survival displaying an epithelial-mesenchymal transition phenotype.
21784138 identify a Sp1 element and two CCAAT boxes to be essential for basal TBX3 promoter activity
21538160 In situ hybridization reveals Tbx3 and Sox4 to co-localize extensively in the embryo including the atrioventricular and outflow tract cushion mesenchyme and a small area of interventricular myocardium.
21199695 Study indicate mutation of TBX3 gene in the family.
21098263 Data show that estrogen signaling expands the pool of functional breast cancer stem-like cells through a paracrine FGF/FGFR/Tbx3 signaling pathway.
21045733 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20942798 pathway that up-regulates TBX3 expression and provides additional evidence that increased levels of TBX3 contribute to metastasis.
20702496 Tbx3 expression was found to be suppressed by AFLL when the expression of tumor suppressor genes p14 and p53 were activated
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20414254 Observational study of gene-disease association. (HuGE Navigator)
20133910 Studies identified Tbx3 as a key regulator of the SAN phenotype.
20062060 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19453261 Observational study of gene-disease association. (HuGE Navigator)
19430479 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
19403417 The mRNA and protein expressions of Tbx3 are markedly upregulated in breast cancer cell lines and tissue samples.
19218121 TBX3 mRNA expression was significantly higher in metastatic breast cancer than in non-metastatic tumors.
18829543 Tbx2 and Tbx3 may play a dual role during the radial to vertical growth phase transition by both inhibiting senescence via repression of p21(CIP1) expression, and enhancing melanoma invasiveness by decreasing E-cadherin levels.
18726671 Fluorescence in situ hybridization did not show major deletions or duplications at chromosome 22q11 as well as the TBX5/TBX3 region at 12q24.1.
18245468 TBX3 repression to its targets is dependent on HDAC activity. TBX3 may serve as a biomarker for breast cancer.
17234970 Nyx2-5 confines recombinant hTBX3 expression to the sinoatrial node & sinus horns in mice. Tbx3 suppresses chamber differentiation--another mechanism by which the Tbx3-positive sinoatrial node is shielded from differentiating into atrial myocardium.
16955224 Data show that Tbx3 plays an important role in osteogenic differentiation and proliferation of human mesenchymal stem cells derived from adipose tissue.
16556916 Required for heart and limb formation, and is mutated in ulnar-mammary syndrome.
16530712 A literature review of TBX3 combined with a novel TBX3 mutation in a family with ulnar-mammary syndrome finds an association in mutations that disrupt the TBX3 DNA-binding domain and a higher frequency of severe upper limb malformations and teeth defects.
16049973 increased expression of truncated cSHMT, Tbx3 and utrophin in plasma samples obtained from patients at early stages of ovarian cancer and breast cancer
15289316 Overexpression of TBX3 is associated with breast cancer
12116211 The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3.
12005433 Results demonstrate the structural consequences of T-box domain protein 3 point mutations observed in Ulnar-Mammary syndrome and Holt-Oram syndrome patients.
12000749 identification of a variant T-site as the essential TBX2/TBX3-binding element in the human p14(ARF) promoter
11689487 Mutations in Tbx3 are responsible for ulnar-mammary syndrome (UMS), an autosomal dominant disorder affecting limb, tooth, hair, apocrine gland and genital development.

AA Sequence

MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGALAKPIMDQLVG      1 - 70
AAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRGTEMVITKSGRRMFPPFKVRC     71 - 140
SGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEMPKRMYIHPDSPATGEQWMSKVVTFHKLKLT    141 - 210
NNISDKHGFTLAFPSDHATWQGNYSFGTQTILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIA    211 - 280
VTAYQNDKITQLKIDNNPFAKGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFA    281 - 350
QASSPAASTVGTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAE    351 - 420
RPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFAPLTVQTDAAA    421 - 490
AHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMGPLLATVSGASTGVSGLDSTA    491 - 560
MASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSLFPYPYTYMAAAAAASSAAASSSVHRHPFLN    561 - 630
LNTMRPRLRYSPYSIPVPVPDGSSLLTTALPSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLS    631 - 700
SSSMSLSPKLCAEKEAATSELQSIQRLVSGLEAKPDRSRSASP                               701 - 743
//

Text Mined References (74)

PMID Year Title
25743805 2015 Overexpression of Tbx3 predicts poor prognosis of patients with resectable pancreatic carcinoma.
25455105 2015 Genetic and functional analysis of the TBX3 gene promoter in indirect inguinal hernia.
25416956 2014 A proteome-scale map of the human interactome network.
25394776 2015 Stratification based on methylation of TBX2 and TBX3 into three molecular grades predicts progression in patients with pTa-bladder cancer.
25371204 2014 The anti-proliferative function of the TGF-?1 signaling pathway involves the repression of the oncogenic TBX2 by its homologue TBX3.
25350852 2014 Human breast progenitor cell numbers are regulated by WNT and TBX3.
25249183 2015 Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
25158279 2014 TBX3, a downstream target of TGF-?1, inhibits mesangial cell apoptosis.
25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
24850809 2014 Genetic determinants of P wave duration and PR segment.
24675841 2014 TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.
24386373 2013 WNT signaling pathway gene polymorphisms and risk of hepatic fibrosis and inflammation in HCV-infected patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24098938 2013 The T-box transcription factor, TBX3, is sufficient to promote melanoma formation and invasion.
24025717 2013 The oncogenic TBX3 is a downstream target and mediator of the TGF-?1 signaling pathway.
23656610 2014 Mutations in exon 2 of TBX3 are rare in common human tumors.
23388722 2013 The transcription factors TBX2 and TBX3 interact with human papillomavirus 16 (HPV16) L2 and repress the long control region of HPVs.
23266556 2013 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
23190890 2013 Oncogenic B-RAF(V600E) signaling induces the T-Box3 transcriptional repressor to repress E-cadherin and enhance melanoma cell invasion.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23116943 2013 Genetic analysis of the TBX3 gene promoter in ventricular septal defects.
23082988 2012 Tbx3 represses PTEN and is over-expressed in head and neck squamous cell carcinoma.
22865636 2012 TBX3 promotes human embryonic stem cell proliferation and neuroepithelial differentiation in a differentiation stage-dependent manner.
22532574 2012 Identification of a novel percent mammographic density locus at 12q24.
22284968 2012 Genome-wide analysis of CpG island methylation in bladder cancer identified TBX2, TBX3, GATA2, and ZIC4 as pTa-specific prognostic markers.
22154512 2012 Transcriptional profiling identifies upregulated genes following induction of epithelial-mesenchymal transition in squamous carcinoma cells.
22002537 2012 Physical and functional interaction between PML and TBX2 in the establishment of cellular senescence.
21909110 2011 Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
21784138 2011 Basal transcription of the human TBX3 gene, a key developmental regulator which is overexpressed in several cancers, requires functional NF-Y and Sp1 sites.
21572416 2011 Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
21538160 2011 Sox4 mediates Tbx3 transcriptional regulation of the gap junction protein Cx43.
21199695 The face of Ulnar Mammary syndrome?
21160077 2010 Genetic correction of PSA values using sequence variants associated with PSA levels.
21098263 2010 Estrogen expands breast cancer stem-like cells through paracrine FGF/Tbx3 signaling.
21045733 2011 Discovery and replication of novel blood pressure genetic loci in the Women's Genome Health Study.
20942798 2011 PMA-induced up-regulation of TBX3 is mediated by AP-1 and contributes to breast cancer cell migration.
20702496 2011 Aqueous extracts of Fructus Ligustri Lucidi enhance the sensitivity of human colorectal carcinoma DLD-1 cells to doxorubicin-induced apoptosis via Tbx3 suppression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20414254 2010 Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population.
20133910 2010 Development of the pacemaker tissues of the heart.
20062060 2010 Genome-wide association study of PR interval.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19430479 2009 Genome-wide association study of blood pressure and hypertension.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19403417 2009 [Tbx3 upregulation may be one of the malignant biomarkers of breast cancer].
19218121 2009 [Expression of TBX3 mRNA and its role in the pathogenesis and metastasis of breast cancer].
18829543 2008 Tbx3 represses E-cadherin expression and enhances melanoma invasiveness.
18726671 2008 Genetic analyses in a variant of Mayer-Rokitansky-Kuster-Hauser syndrome (MURCS association).
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18245468 2008 TBX3 is overexpressed in breast cancer and represses p14 ARF by interacting with histone deacetylases.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
17234970 2007 Molecular pathway for the localized formation of the sinoatrial node.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16955224 2007 Tbx3, a transcriptional factor, involves in proliferation and osteogenic differentiation of human adipose stromal cells.
16556916 2006 Isl1Cre reveals a common Bmp pathway in heart and limb development.
16530712 Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects.
16049973 2006 Increased expression of cSHMT, Tbx3 and utrophin in plasma of ovarian and breast cancer patients.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15289316 2004 TBX3 and its isoform TBX3+2a are functionally distinctive in inhibition of senescence and are overexpressed in a subset of breast cancer cell lines.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12668170 Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12116211 2002 Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development.
12032820 2002 Tbx3 impinges on the p53 pathway to suppress apoptosis, facilitate cell transformation and block myogenic differentiation.
12005433 2002 Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome.
12000749 2002 The T-box repressors TBX2 and TBX3 specifically regulate the tumor suppressor gene p14ARF via a variant T-site in the initiator.
11748239 2002 TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence.
10468588 1999 Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome.
10330342 1999 The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.
9207801 1997 Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
8988164 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.