Property Summary

NCBI Gene PubMed Count 50
PubMed Score 90.33
PubTator Score 1890.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 1.200 1.6e-03
psoriasis -1.100 1.4e-03
group 3 medulloblastoma 2.000 9.8e-04
atypical teratoid / rhabdoid tumor 1.800 3.2e-05
medulloblastoma, large-cell 1.900 7.3e-03
X-linked cerebral adrenoleukodystrophy -1.400 1.6e-02
Breast cancer 1.100 2.7e-04
invasive ductal carcinoma 1.100 2.2e-02

 GO Component (1)

Gene RIF (46)

PMID Text
26036351 The results clearly suggest a possible etiologic association between the TBX1 deletion and Tetralogy of Fallot.
25860641 TBX1 loss-of-function mutation with enhanced susceptibility to double outlet right ventricle (DORV) and ventricular septal defect (VSD)in humans, which provides novel insight into the molecular mechanism underlying Congenital heart disease (CHD).
25168891 SNPs in three genes CYP26B1 rs2241057, CISD1 rs2251039, rs2590370, and TBX1 rs4819522 were involved in six potential pathways to influence serum prostate-specific antigen levels.
24998776 Observations suggest that TBX1 loss-of-function mutation may be involved in the pathogenesis of isolated conotrucal heart defects (CTDs)in patients without 22q11.2 deletion.
24637876 TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes.
24295890 DNA sequence variants within the TBX1 gene promoter may change TBX1 level, contributing to indirect inguinal hernia development as a rare risk factor
23945394 Results show that TBX1 regulates brain angiogenesis through the DLL4/Notch1-VEGFR3 regulatory axis.
23828768 Findings indicate an association between TBX1 variations and fetal CTD. The results also demonstrate the power of array CGH to further scrutinize the critical gene(s) of del22q11.2 syndrome responsible for heart defects.
23034814 common DNA variants in TBX1 may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant.
22931165 shRNA silencing of the T-box transcription factor Brachyury resulted in downregulation of the EMT and stem cell markers in adenoid cystic carcinoma cell lines. Brachyury expression in clinical samples of AdCC was extremely high and closely related to EMT.
22893440 We describe eight patients with variable phenotype features harboring atypical distal deletions of chromosome 22q11.2 not encompassing the TBX1 gene.
22842189 TBX1 can alter TGF-beta/BMP, an important signaling pathway, through interacting with HOXD10. Above findings may shed light on the mechanism of TBX1 mutations leading to renal malformations found in patients carrying a 22q11 deletion.
22801995 The sequence variants within TBX1 gene promoter may contribute to the ventricular septal defect etiology by altering the expression levels of TBX1 gene.
22185286 TBX1 genetic variants may be associated with conotruncal heart defects.
22164283 Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity
22095455 TBX1 T-box domain binds DNA as two distinct monomers.
21796729 common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome (TBX1 )
21041608 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20937753 This is the first comprehensive investigation of common and rare TBX1 genetic variants in non-syndromic tetralogy of Fallot cases and it has identified a rare novel functional genetic variant that is a likely susceptibility factor to tetralogy of Fallot.
20937753 Observational study of gene-disease association. (HuGE Navigator)
20634891 Observational study of gene-disease association. (HuGE Navigator)
20497193 Studies indicate that mutations in the TBX1 gene have been found in patients with phenotypes reminiscent of 22q11.2 syndromes.
20071775 Brachyury is overexpressed in various human tumor tissues and tumor cell lines compared with normal tissues.
19948535 Observational study of gene-disease association. (HuGE Navigator)
19645056 Observational study of gene-disease association. (HuGE Navigator)
19467348 Atypical deletion of 22q11.2 detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays is reported.
19407855 Fluorescent in situ hybridisation analysis on FGFR4, ETS2 and brachyury failed to show either amplification or translocation for ERG and ETS2 loci
19336370 Observational study of gene-disease association. (HuGE Navigator)
19050236 T-bet expression does not inhibit interferon-alpha-dependent interleukin-2 secretion in human T(central memory) cells.
17850965 Observational study of gene-disease association. (HuGE Navigator)
17850965 Our data suggest that the genetic polymorphisms within TBX1 do not confer an increased susceptibility to schizophrenia in the Chinese population.
17622328 Observational study of gene-disease association. (HuGE Navigator)
17622328 TBX1 variation does not make a strong contribution to the genetic etiology of nonsyndromic forms of psychiatric disorders commonly seen in patients with 22q11DS.
17479646 Observational study of gene-disease association. (HuGE Navigator)
17438107 T-box transcription factor and a molecule implicated in mesodermal developmecan may be a potential target for human T-cell-mediated cancer immunotherapy.
17377518 screen for TBX1 gene mutations identified 2 mutations in patients with some features compatible with 22q11.2-deletion syndrome but with no deletions.
17273972 TBX1 missense mutations cause gain of function resulting in Shprintzen syndrome
16854283 Observational study of gene-disease association. (HuGE Navigator)
16684884 Data show that deficits in prepulse inhibition, a behavioral abnormality and schizophrenia endophenotype, in Df1/+ mice are caused by haploinsufficiency of two genes, Tbx1 and Gnb1l.
16586352 role for Tbx1 in mediating epithelial-mesenchymal signalling in regions of the developing face
15703190 a novel nuclear localization signal in Tbx1 is deleted in DiGeorge syndrome patients harboring the 1223delC mutation
15337468 Observational study of gene-disease association. (HuGE Navigator)
15337468 Mutations in TBX1 are not likely to be involved in the cardiac phenotype observed in del22q11 patients.
12858556 Genetic dissection of the DiGeorge syndrome phenotype.
12533514 identified a single cis-element upstream of Tbx1 that recognized winged helix/forkhead box (Fox)-containing transcription factors
11748311 mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects

AA Sequence

MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAY      1 - 70
PFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMF     71 - 140
PTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQI    141 - 210
VSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHR    211 - 280
ITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAET    281 - 350
SRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC                          351 - 398
//

Text Mined References (51)

PMID Year Title
26036351 2015 Identification of Copy Number Variations in Isolated Tetralogy of Fallot.
25860641 2015 A Novel TBX1 Loss-of-Function Mutation Associated with Congenital Heart Disease.
25217961 2014 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
25168891 2014 Pathway analysis of genome-wide association study on serum prostate-specific antigen levels.
24998776 2014 Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
24637876 2014 TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
24295890 2014 Genetic analysis of the TBX1 gene promoter in indirect inguinal hernia.
23945394 2014 Tbx1 regulates brain vascularization.
23828768 2014 Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.
23725790 2013 GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23034814 2012 Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
23000736 2012 Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes.
22931165 2012 The T-box transcription factor Brachyury regulates epithelial-mesenchymal transition in association with cancer stem-like cells in adenoid cystic carcinoma cells.
22893440 2012 Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
22842189 2014 Interaction between Tbx1 and Hoxd10 and connection with TGF?-BMP signal pathway during kidney development.
22801995 2012 Genetic analysis of the TBX1 gene promoter in ventricular septal defects.
22185286 2011 Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus.
22164283 2011 Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity.
22095455 2012 Structure of the DNA-bound T-box domain of human TBX1, a transcription factor associated with the DiGeorge syndrome.
21796729 2011 Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.
21041608 2011 Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.
20937753 2010 Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20497193 2010 Developmental perspectives on copy number abnormalities of the 22q11.2 region.
20071775 2010 The T-box transcription factor Brachyury promotes epithelial-mesenchymal transition in human tumor cells.
19948535 2010 Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.
19645056 2010 Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome.
19467348 Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays.
19407855 2009 Analysis of the fibroblastic growth factor receptor-RAS/RAF/MEK/ERK-ETS2/brachyury signalling pathway in chordomas.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19050236 2008 Cutting edge: a T-bet-independent role for IFN-alpha/beta in regulating IL-2 secretion in human CD4+ central memory T cells.
17850965 2007 An association study between the genetic polymorphisms within TBX1 and schizophrenia in the Chinese population.
17622328 Analysis of TBX1 variation in patients with psychotic and affective disorders.
17479646 TBX1 gene mutation screening in patients with non-syndromic Fallot tetralogy.
17438107 2007 The human T-box mesodermal transcription factor Brachyury is a candidate target for T-cell-mediated cancer immunotherapy.
17377518 2007 Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16854283 2006 [Single nucleotide polymorphism and haplotype in TBX1 gene of patients with conotruncal defects: analysis of 130 cases].
16684884 2006 Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.
16586352 2006 Tbx1 is expressed at multiple sites of epithelial-mesenchymal interaction during early development of the facial complex.
15703190 2005 Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.
15337468 Allelic variations at the haploid TBX1 locus do not influence the cardiac phenotype in cases of 22q11 microdeletion.
14585638 2003 Role of TBX1 in human del22q11.2 syndrome.
12858556 2002 Genetic dissection of the DiGeorge syndrome phenotype.
12533514 2003 Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.
11585671 2001 Developing models of DiGeorge syndrome.
11111039 2000 Differential DNA binding and transcription modulation by three T-box proteins, T, TBX1 and TBX2.
9268629 1997 Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene.
1360769 1992 Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.