Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

T-box transcription factor TBX18

The TBX18 gene encodes a transcription factor that is active during embryonic development. Mutations cause autosomal dominant congenital anomalies of kidney and urinary tract 2 (CAKUT2).


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital anomalies of kidney and urinary tract 2



Yi CH et. al. (1999) Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.


Bussen M et. al. (2004) The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments.


Airik R et. al. (2006) Tbx18 regulates the development of the ureteral mesenchyme.


Cai CL et. al. (2008) A myocardial lineage derives from Tbx18 epicardial cells.


Wiese C et. al. (2009) Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3.


Vivante A et. al. (2015) Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Update: Sept. 26, 2018