ZEB2
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| Location (UCSC) | Chr 2: 144.36 – 144.52 Mb | Chr 2: 44.87 – 45.01 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
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Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene.[5] The ZEB2 protein is a transcription factor that plays a role in the transforming growth factor β (TGFβ) signaling pathways that are essential during early fetal development.[6]
Function
ZEB2 (previously also known as SMADIP1, SIP1) and its mammalian paralog ZEB1 belongs to the Zeb family within the ZF (zinc finger) class of homeodomain transcription factors. ZEB2 protein has 8 zinc fingers and 1 homeodomain.[7] The structure of the homeodomain shown on the right.
ZEB2 interacts with receptor-mediated, activated full-length
ZEB2 transcripts are found in tissues differentiated from the
Clinical significance
Mutations in the ZEB2 gene are associated with the Mowat–Wilson syndrome. This disease exhibits mutations and even complete deletions of the ZEB2 gene. Mutations of the gene can cause the gene to produce nonfunctional ZEB2 proteins or inactivate the function of the gene as a whole. These deficits of ZEB2 protein interfere with the development of many organs. Many of the symptoms can be explained by the irregular development of the structures from the neural crest.[9]
Hirschsprung's disease also has many symptoms that can be explained by lack of ZEB2 during development of the digestive tract nerves. This disease causes severe constipation and enlargement of the colon.[10]
The risk of hepatocellular carcinoma and cirrhosis in chronic hepatitis B has been reported to be associated with a single-nucleotide polymorphism in the promoter region of ZEB2, designated rs3806475, under a recessive model of inheritance.[11]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000169554 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026872 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: ZEB2 zinc finger E-box binding homeobox 2".
- S2CID 25770329.
- PMID 26464018.
- PMID 33765444.
- S2CID 37981110.
- S2CID 22472646.
- license.
Further reading
- Mowat DR, Wilson MJ, Goossens M (May 2003). "Mowat-Wilson syndrome". Journal of Medical Genetics. 40 (5): 305–10. PMID 12746390.
- Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (February 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 Research. 5 (1): 31–9. PMID 9628581.
- Ueki N, Oda T, Kondo M, Yano K, Noguchi T, Muramatsu M (December 1998). "Selection system for genes encoding nuclear-targeted proteins". Nature Biotechnology. 16 (13): 1338–42. S2CID 20001769.
- Verschueren K, Remacle JE, Collart C, Kraft H, PMID 10400677.
- Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, Kitoh H, Mutoh N, Yamanaka T, Mushiake K, Kato K, Sonta S, Nagaya M (April 2001). "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease". Nature Genetics. 27 (4): 369–70. S2CID 39070888.
- Comijn J, Berx G, Vermassen P, Verschueren K, van Grunsven L, Bruyneel E, Mareel M, Huylebroeck D, van Roy F (June 2001). "The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion". Molecular Cell. 7 (6): 1267–78. PMID 11430829.
- Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, Wilson M, Mowat D, Goossens M (July 2001). "Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease". Human Molecular Genetics. 10 (14): 1503–10. PMID 11448942.
- Tylzanowski P, Verschueren K, Huylebroeck D, Luyten FP (October 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". The Journal of Biological Chemistry. 276 (43): 40001–7. PMID 11477103.
- Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S, Kato K, Sonta S, Ono H, Yamanaka T, Nagaya M, Wakamatsu N (December 2001). "Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features". American Journal of Human Genetics. 69 (6): 1178–85. PMID 11592033.
- Amiel J, Espinosa-Parrilla Y, Steffann J, Gosset P, Pelet A, Prieur M, Boute O, Choiset A, Lacombe D, Philip N, Le Merrer M, Tanaka H, Till M, Touraine R, Toutain A, Vekemans M, Munnich A, Lyonnet S (December 2001). "Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures". American Journal of Human Genetics. 69 (6): 1370–7. PMID 11595972.
- Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A (March 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". American Journal of Medical Genetics. 108 (3): 177–81. PMID 11891681.
- Nagaya M, Kato J, Niimi N, Tanaka S, Wakamatsu N (August 2002). "Clinical features of a form of Hirschsprung's disease caused by a novel genetic abnormality". Journal of Pediatric Surgery. 37 (8): 1117–22. PMID 12149685.
- Guaita S, Puig I, Franci C, Garrido M, Dominguez D, Batlle E, Sancho E, Dedhar S, De Herreros AG, Baulida J (October 2002). "Snail induction of epithelial to mesenchymal transition in tumor cells is accompanied by MUC1 repression and ZEB1 expression". The Journal of Biological Chemistry. 277 (42): 39209–16. PMID 12161443.
- Espinosa-Parrilla Y, Amiel J, Augé J, Encha-Razavi F, Munnich A, S2CID 18645909.
- Yoneda M, Fujita T, Yamada Y, Yamada K, Fujii A, Inagaki T, Nakagawa H, Shimada A, Kishikawa M, Nagaya M, Azuma T, Kuriyama M, Wakamatsu N (November 2002). "Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B". Neurology. 59 (10): 1637–40. S2CID 34389990.
- Postigo AA (May 2003). "Opposing functions of ZEB proteins in the regulation of the TGFbeta/BMP signaling pathway". The EMBO Journal. 22 (10): 2443–52. PMID 12743038.
- Postigo AA, Depp JL, Taylor JJ, Kroll KL (May 2003). "Regulation of Smad signaling through a differential recruitment of coactivators and corepressors by ZEB proteins". The EMBO Journal. 22 (10): 2453–62. PMID 12743039.
- Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A (August 2003). "Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome". Journal of Medical Genetics. 40 (8): 601–5. PMID 12920073.
External links
- GeneReviews/NIH/NCBI/UW entry on Mowat-Wilson syndrome
- ZEB2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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