ZEB2 : zinc finger E-box binding homeobox 2
Description
The ZEB2 (zinc finger E-box binding homeobox 2) is a protein-coding gene located on chromosome 2.
The ZEB2 gene produces a protein crucial for the development of various organs and tissues before birth. This protein acts as a transcription factor, attaching to specific DNA regions to control gene activity. It plays a role in signaling pathways regulating early growth and development. The ZEB2 protein is active in various cell types before birth, particularly important for the development of the neural crest, giving rise to tissues and organs like the nervous system, endocrine glands, pigment cells, heart muscles, and facial structures. The ZEB2 protein also contributes to the development of organs outside the neural crest, such as the digestive tract, skeletal muscles, and kidneys.
ZEB2 is a transcriptional inhibitor that binds to the DNA sequence 5‘-CACCT-3‘ in various promoters, repressing the transcription of E-cadherin and the expression of MEOX2.
ZEB2 is also known as HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B.
Associated Diseases
- Mowat-Wilson syndrome due to monosomy 2q22
- Mowat-Wilson syndrome
- Large congenital melanocytic nevus
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Coloboma
