Gene Symbol | ZEB2 |
Entrez Gene ID | 9839 |
Full Name | zinc finger E-box binding homeobox 2 |
Synonyms | HSPC082,SIP-1,SIP1,SMADIP1,ZFHX1B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]. |
Disorder MIM: | |
Disorder Html: | Mowat-Wilson syndrome, 235730 (3) |