CDX2
Description
The CDX2 (caudal type homeobox 2) is a protein-coding gene located on chromosome 13.
CDX2 is a homeobox transcription factor encoded by the CDX2 gene in humans. It is expressed in the nuclei of intestinal epithelial cells and plays a crucial role in the development and function of the digestive system. CDX2 belongs to the ParaHox gene cluster, a group of three highly conserved developmental genes found in most vertebrate species. Along with CDX1 and CDX4, CDX2 is one of the three caudal-related genes in the human genome. CDX2 regulates essential processes in the development and function of the lower gastrointestinal tract (duodenum to anus). During embryonic development, CDX2 becomes active in endodermal cells located posterior to the developing stomach. These cells eventually form the intestinal epithelium. CDX2 activity at this stage is critical for the proper formation of the intestine and anus. Additionally, CDX2 is required for the development of the placenta. Later in development, CDX2 is expressed in intestinal epithelial stem cells, which continuously differentiate into the cells that make up the intestinal lining.
CDX2 is a transcription factor that regulates the expression of numerous genes involved in intestinal epithelial function. It activates the transcription of sucrase-isomaltase (SI) by binding to its promoter. CDX2 also binds to the promoter region of the vitamin D receptor (VDR) at the 5'-ATAAAAACTTAT-3' sequence, activating its transcription. Additionally, CDX2 activates the transcription of lipoprotein lipase (LPH), claudin-2 (CLDN2), and intestinal mucin MUC2. CDX2 binds to the 5'-AATTTTTTACAACACCT-3' sequence in the promoter region of carbonic anhydrase 1 (CA1) to activate its transcription. CDX2 plays a crucial role in various intestinal processes, including early differentiation and maintenance of the intestinal epithelial lining of both the small and large intestine. Notably, CDX2 exhibits a preference for binding to methylated DNA.
CDX2 is also known as CDX-3, CDX2/AS, CDX3.
Associated Diseases
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- gastrointestinal stromal tumor
- superficial spreading melanoma
- pancreatic ductal adenocarcinoma
- urinary bladder carcinoma
