ZEB2

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]

Description

zinc finger E-box binding homeobox 2

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014), Transcription factors

Chromosome

2:q22.3 (144384081 - 144524583)

Ensembl ID

ENSG00000169554  (ver. 84.38)

Orthologs

Mouse Zeb2: ENSMUSG00000026872

UniProt

O60315

neXtProt

NX_O60315

Human splice variants
Mouse splice variants