TBX18

TBX18 is a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. TBX18 belongs to the vertebrate specific Tbx1 sub-family. TBX18 acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. TBX18 forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors.

T-Box 18

Acts as transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area.

Biological Process cell fate specificationIBA:GO_Central1 Publication
Biological Process cochlea morphogenesisISS:ARUK-UCL
Biological Process morphogenesis of embryonic epitheliumIBA:GO_Central1 Publication
Biological Process negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formationISS:BHF-UCL
Biological Process positive regulation of DNA-templated transcriptionIEA:InterPro
Biological Process regulation of SA node cell action potentialIMP:BHF-UCL1 Publication
Biological Process regulation of transcription by RNA polymerase IIIBA:GO_Central1 Publication
Biological Process sinoatrial node cell developmentIMP:BHF-UCL1 Publication
Biological Process sinoatrial node cell fate commitmentIMP:BHF-UCL1 Publication
Biological Process sinoatrial node developmentISS:BHF-UCL
Biological Process smooth muscle cell differentiationISS:ARUK-UCL
Biological Process somitogenesisISS:ARUK-UCL
Biological Process ureter developmentIMP:UniProtKB1 Publication

Nucleus

Congenital anomalies of kidney and urinary tract 2 (CAKUT2):
A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.