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Zinc finger E-box binding homeobox 2

PDB rendering based on 2da7.
Available structures
2da7
Identifiers
Symbols ZEB2; SIP1; SIP-1; KIAA0569; SMADIP1; ZFHX1B
External IDs OMIM605802 MGI1344407 HomoloGene8868 GeneCards: ZEB2 Gene
RNA expression pattern
PBB GE ZEB2 203603 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 9839 24136
Ensembl ENSG00000169554 ENSMUSG00000026872
UniProt O60315 Q3URW5
RefSeq (mRNA) NM_014795 NM_001033635
RefSeq (protein) NP_055610 NP_001028807
Location (UCSC) Chr 2:
144.86 - 144.99 Mb
Chr 2:
44.81 - 44.94 Mb
PubMed search [1] [2]

Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene.[1]

Contents

Function

The SMADIP1 gene (also known as SIP1) is a member of the delta-EF1 (TCF8)/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SMADIP1 interacts with receptor-mediated, activated full-length SMADs.[1]

Clinical significance

Mutations in the ZEB2 gene is associated with the Mowat-Wilson syndrome.

References

Further reading

  • Mowat DR, Wilson MJ, Goossens M (2003). "Mowat-Wilson syndrome.". J. Med. Genet. 40 (5): 305–10. doi:10.1136/jmg.40.5.305. PMID 12746390.  
  • Nagase T, Ishikawa K, Miyajima N, 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.". DNA Res. 5 (1): 31–9. doi:10.1093/dnares/5.1.31. PMID 9628581.  
  • Ueki N, Oda T, Kondo M, et al. (1999). "Selection system for genes encoding nuclear-targeted proteins.". Nat. Biotechnol. 16 (13): 1338–42. doi:10.1038/4315. PMID 9853615.  
  • Verschueren K, Remacle JE, Collart C, et al. (1999). "SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes.". J. Biol. Chem. 274 (29): 20489–98. doi:10.1074/jbc.274.29.20489. PMID 10400677.  
  • Wakamatsu N, Yamada Y, Yamada K, et al. (2001). "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.". Nat. Genet. 27 (4): 369–70. doi:10.1038/86860. PMID 11279515.  
  • Comijn J, Berx G, Vermassen P, et al. (2001). "The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion.". Mol. Cell 7 (6): 1267–78. doi:10.1016/S1097-2765(01)00260-X. PMID 11430829.  
  • Cacheux V, Dastot-Le Moal F, Kääriäinen H, et al. (2001). "Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.". Hum. Mol. Genet. 10 (14): 1503–10. doi:10.1093/hmg/10.14.1503. PMID 11448942.  
  • Tylzanowski P, Verschueren K, Huylebroeck D, Luyten FP (2001). "Smad-interacting protein 1 is a repressor of liver/bone/kidney alkaline phosphatase transcription in bone morphogenetic protein-induced osteogenic differentiation of C2C12 cells.". J. Biol. Chem. 276 (43): 40001–7. doi:10.1074/jbc.M104112200. PMID 11477103.  
  • Yamada K, Yamada Y, Nomura N, et al. (2002). "Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.". Am. J. Hum. Genet. 69 (6): 1178–85. doi:10.1086/324343. PMID 11592033.  
  • Amiel J, Espinosa-Parrilla Y, Steffann J, et al. (2002). "Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.". Am. J. Hum. Genet. 69 (6): 1370–7. doi:10.1086/324342. PMID 11595972.  
  • Zweier C, Albrecht B, Mitulla B, 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.". Am. J. Med. Genet. 108 (3): 177–81. doi:10.1002/ajmg.10226. PMID 11891681.  
  • Nagaya M, Kato J, Niimi N, et al. (2002). "Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality.". J. Pediatr. Surg. 37 (8): 1117–22. doi:10.1053/jpsu.2002.34455. PMID 12149685.  
  • Guaita S, Puig I, Franci C, et al. (2002). "Snail induction of epithelial to mesenchymal transition in tumor cells is accompanied by MUC1 repression and ZEB1 expression.". J. Biol. Chem. 277 (42): 39209–16. doi:10.1074/jbc.M206400200. PMID 12161443.  
  • Espinosa-Parrilla Y, Amiel J, Augé J, et al. (2003). "Expression of the SMADIP1 gene during early human development.". Mech. Dev. 114 (1-2): 187–91. doi:10.1016/S0925-4773(02)00062-X. PMID 12175509.  
  • Yoneda M, Fujita T, Yamada Y, et al. (2002). "Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.". Neurology 59 (10): 1637–40. PMID 12451214.  
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  
  • Postigo AA (2003). "Opposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathway.". EMBO J. 22 (10): 2443–52. doi:10.1093/emboj/cdg225. PMID 12743038.  
  • Postigo AA, Depp JL, Taylor JJ, Kroll KL (2003). "Regulation of Smad signaling through a differential recruitment of coactivators and corepressors by ZEB proteins.". EMBO J. 22 (10): 2453–62. doi:10.1093/emboj/cdg226. PMID 12743039.  
  • Zweier C, Temple IK, Beemer F, et al. (2003). "Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.". J. Med. Genet. 40 (8): 601–5. doi:10.1136/jmg.40.8.601. PMID 12920073.  

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