TBX1 (T-box transcription factor 1)

2003-05-01  

Identity

HGNC
LOCATION
22q11.21
LOCUSID
ALIAS
CAFS,CATCH22,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCF,VCFS
FUSION GENES

Other Information

Locus ID:

NCBI: 6899
MIM: 602054
HGNC: 11592
Ensembl: ENSG00000184058

Variants:

dbSNP: 6899
ClinVar: 6899
TCGA: ENSG00000184058
COSMIC: TBX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184058ENST00000329705O43435
ENSG00000184058ENST00000332710O43435
ENSG00000184058ENST00000332710D9ZGG0
ENSG00000184058ENST00000359500O43435
ENSG00000184058ENST00000359500Q152R5
ENSG00000184058ENST00000649276A0A3B3IS18

Expression (GTEx)

0
5
10
15
20
25
30
35

References

Pubmed IDYearTitleCitations
166848842006Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome.109
200717752010The T-box transcription factor Brachyury promotes epithelial-mesenchymal transition in human tumor cells.108
174381072007The human T-box mesodermal transcription factor Brachyury is a candidate target for T-cell-mediated cancer immunotherapy.71
125335142003Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer.69
172739722007Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.65
210416082011Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up.48
117483112001Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects.38
199485352010Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot.36
217967292011Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.32
157031902005Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation.31

Citation

Dessen P

TBX1 (T-box transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42484/tbx1