ZEB2

Zinc finger E-box binding homeobox 2
PDB rendering based on 2da7.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2DA7
Identifiers
Symbols	ZEB2; HSPC082; SIP-1; SIP1; SMADIP1; ZFHX1B
External IDs	OMIM: 605802 MGI: 1344407 HomoloGene: 8868 GeneCards: ZEB2 Gene
Gene Ontology Molecular function • sequence-specific DNA binding transcription factor activity • zinc ion binding • phosphatase regulator activity • sequence-specific DNA binding • SMAD binding • metal ion binding Cellular component • nucleus • nucleolus • cytoplasm Biological process • neural crest cell migration • somitogenesis • neural tube closure • transcription, DNA-dependent • nervous system development • hippocampus development • cell proliferation in forebrain • positive regulation of Wnt receptor signaling pathway • positive regulation of JUN kinase activity Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9839	24136
Ensembl	ENSG00000169554	ENSMUSG00000026872
UniProt	O60315	Q9R0G7
RefSeq (mRNA)	NM_001171653	NM_015753
RefSeq (protein)	NP_001165124	NP_056568
Location (UCSC)	Chr 2: 145.15 – 145.28 Mb	Chr 2: 44.98 – 45.12 Mb
PubMed search	[1]	[2]

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

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.

Clinical significance

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

External links

• GeneReviews/NIH/NCBI/UW entry on Mowat-Wilson syndrome

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. PMC 1735450. 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. PMC 1235530. 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. PMC 1235547. 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. PMC 139241. PMID 12477932. 
• Postigo AA (2003). "Opposing functions of ZEB proteins in the regulation of the TGFβ/BMP signaling pathway". EMBO J. 22 (10): 2443–52. doi:10.1093/emboj/cdg225. PMC 155983. 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. PMC 155984. 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. PMC 1735564. PMID 12920073. 

External links

• ZEB2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)