Aliases for TBX18 Gene
External Ids for TBX18 Gene
Previous GeneCards Identifiers for TBX18 Gene
This genes codes for 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. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
GeneCards Summary for TBX18 Gene
TBX18 (T-Box 18) is a Protein Coding gene. Diseases associated with TBX18 include Congenital Anomalies Of Kidney And Urinary Tract 2 and Bilateral Multicystic Dysplastic Kidney. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is TBX15.
UniProtKB/Swiss-Prot for TBX18 Gene
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.