Description: Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. (from RefSeq NM_014795) RefSeq Summary (NM_014795): 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]. Gencode Transcript: ENST00000627532.3 Gencode Gene: ENSG00000169554.22 Transcript (Including UTRs) Position: hg38 chr2:144,384,081-144,520,119 Size: 136,039 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr2:144,389,451-144,517,350 Size: 127,900 Coding Exon Count: 9
ID:ZEB2_HUMAN DESCRIPTION: RecName: Full=Zinc finger E-box-binding homeobox 2; AltName: Full=Smad-interacting protein 1; Short=SMADIP1; AltName: Full=Zinc finger homeobox protein 1b; FUNCTION: Transcriptional inhibitor that binds to DNA sequence 5'- CACCT-3' in different promoters. Represses transcription of E- cadherin. SUBUNIT: Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1. SUBCELLULAR LOCATION: Nucleus. PTM: Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity. DISEASE: Defects in ZEB2 are the cause of Mowat-Wilson syndrome (MWIS) [MIM:235730]; also known as Hirschsprung disease-mental retardation syndrome. A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Some patients manifest Hirschsprung disease. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. SIMILARITY: Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family. SIMILARITY: Contains 7 C2H2-type zinc fingers. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=BAA25495.2; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ZEB2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O60315
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.