TBX18 gene

T-box 18

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Multicystic renal dysplasia, bilateral
  • Huntington's chorea

From UniProt:

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. [MIM:143400]

Cytogenetic Location: 6q14-q15, which is the long (q) arm of chromosome 6 between positions 14 and 15

Molecular Location: base pairs 84,666,834 to 84,764,236 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q14-q15, which is the long (q) arm of chromosome 6 between positions 14 and 15
  • CAKUT2