TBX18 (T-box transcription factor 18)

2008-07-01  

Identity

HGNC
LOCATION
6q14.3
LOCUSID
ALIAS
CAKUT2
FUSION GENES

Other Information

Locus ID:

NCBI: 9096
MIM: 604613
HGNC: 11595
Ensembl: ENSG00000112837

Variants:

dbSNP: 9096
ClinVar: 9096
TCGA: ENSG00000112837
COSMIC: TBX18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112837ENST00000369663O95935
ENSG00000112837ENST00000606325U3KQ31
ENSG00000112837ENST00000606621U3KQQ9
ENSG00000112837ENST00000606784U3KQH2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

References

Pubmed IDYearTitleCitations
175847352007Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors.35
212058232011Transcriptional suppression of connexin43 by TBX18 undermines cell-cell electrical coupling in postnatal cardiomyocytes.25
262359872015Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.22
276329382016TBX18 gene induces adipose-derived stem cells to differentiate into pacemaker-like cells in the myocardial microenvironment.9
300782032019TBX18 transcription factor overexpression in human-induced pluripotent stem cells increases their differentiation into pacemaker-like cells.6
237491712013Novel and functional variants within the TBX18 gene promoter in ventricular septal defects.1
273815322016Sonic hedgehog, TBX18, and TSHZ3 proteins involved in pyeloureteral motility development are overexpressed in ureteropelvic junction obstruction. An immunohistochemical, histopathological, and clinical comparative study.0
287944002017Tbx18-positive cells differentiated from murine ES cells serve as proepicardial progenitors to give rise to vascular smooth muscle cells and fibroblasts.0
300710412018Proteomic analysis identifies transcriptional cofactors and homeobox transcription factors as TBX18 binding proteins.0
309832022019[Role of over-expression of TBX3 and TBX18 in the enrichment and differentiation of human induced pluripotent stem cells into sinoatrial node-like cells].0

Citation

Dessen P

TBX18 (T-box transcription factor 18)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50239/tbx18