Zinc finger E-box-binding homeobox 2
The ZEB2 gene encodes a transcription factor. Mutations cause autosomal recessive Mowat-Wilson syndrome.
Genetests:
Related Diseases:
References:
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Mowat DR et al. (1998) Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.
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El-Kasti MM et al. (2012) A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes.
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Renthal NE et al. (2010) miR-200 family and targets, ZEB1 and ZEB2, modulate uterine quiescence and contractility during pregnancy and labor.
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Seuntjens E et al. (2009) Sip1 regulates sequential fate decisions by feedback signaling from postmitotic neurons to progenitors.
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Park SM et al. (2008) The miR-200 family determines the epithelial phenotype of cancer cells by targeting the E-cadherin repressors ZEB1 and ZEB2.
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Beltran M et al. (2008) A natural antisense transcript regulates Zeb2/Sip1 gene expression during Snail1-induced epithelial-mesenchymal transition.
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Verstappen G et al. (2008) Atypical Mowat-Wilson patient confirms the importance of the novel association between ZFHX1B/SIP1 and NuRD corepressor complex.
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Van de Putte T et al. (2007) Neural crest-specific removal of Zfhx1b in mouse leads to a wide range of neurocristopathies reminiscent of Mowat-Wilson syndrome.
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9. |
Kato M et al. (2007) MicroRNA-192 in diabetic kidney glomeruli and its function in TGF-beta-induced collagen expression via inhibition of E-box repressors.
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10. |
Vandewalle C et al. (2005) SIP1/ZEB2 induces EMT by repressing genes of different epithelial cell-cell junctions.
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11. |
Lin SY et al. (2003) Multiple tumor suppressor pathways negatively regulate telomerase.
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Van de Putte T et al. (2003) Mice lacking ZFHX1B, the gene that codes for Smad-interacting protein-1, reveal a role for multiple neural crest cell defects in the etiology of Hirschsprung disease-mental retardation syndrome.
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13. |
Comijn J et al. (2001) The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion.
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14. |
Postigo AA et al. (2000) Differential expression and function of members of the zfh-1 family of zinc finger/homeodomain repressors.
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15. |
Remacle JE et al. (1999) New mode of DNA binding of multi-zinc finger transcription factors: deltaEF1 family members bind with two hands to two target sites.
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Ghoumid J et al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
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Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
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18. |
Wakamatsu N et al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.
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19. |
Cacheux V et al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.
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20. |
Yamada K et al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.
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21. |
Amiel J et al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.
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Zweier C et al. (2002) "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
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Yoneda M et al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.
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Zweier C et al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.
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25. |
Ishihara N et al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.
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26. |
McGaughran J et al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.
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27. |
Zweier C et al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.
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28. |
Heinritz W et al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.
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29. |
Dastot-Le Moal F et al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome.
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30. |
Verschueren K et al. (1999) SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes.
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31. |
Orphanet article
Orphanet ID 120593
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32. |
NCBI article
NCBI 9839
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OMIM.ORG article
Omim 605802
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Wikipedia article
Wikipedia EN (ZEB2)
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Update: Aug. 14, 2020