ZEB2: Difference between revisions

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== Function ==
== 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.<ref name="pmid26464018">{{cite journal | author = Bürglin, TR, Affolter, M, | title = Homeodomain proteins: an update | journal = Chromosoma | volume = 125| issue = 3 | pages = x | year = 2015 | pmid = 26464018 | doi = 10.1007/s00412-015-0543-8 | pmc=4901127}}</ref> The structure of the homeodomain shown on the right.
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.<ref name="pmid26464018">{{cite journal | vauthors = Bürglin TR, Affolter M | title = Homeodomain proteins: an update | journal = Chromosoma | volume = 125 | issue = 3 | pages = 497–521 | date = June 2016 | pmid = 26464018 | doi = 10.1007/s00412-015-0543-8 }}</ref>The structure of the homeodomain shown on the right.


ZEB2 interacts with receptor-mediated, activated full-length [[SMAD (protein)|SMAD]]s.<ref name="entrez"/> The activation of TGFβ receptors brings about the phosphorylation of intracellular effector molecules, R-SMADs. ZEB2 is an R-SMAD-binding protein and acts as a transcriptional corepressor.
ZEB2 interacts with receptor-mediated, activated full-length [[SMAD (protein)|SMAD]]s.<ref name="entrez"/> The activation of TGFβ receptors brings about the phosphorylation of intracellular effector molecules, R-SMADs. ZEB2 is an R-SMAD-binding protein and acts as a transcriptional corepressor.
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* {{cite journal | vauthors = Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 5 | issue = 1 | pages = 31–9 | date = February 1998 | pmid = 9628581 | doi = 10.1093/dnares/5.1.31 }}
* {{cite journal | vauthors = Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O | title = 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 | journal = DNA Research | volume = 5 | issue = 1 | pages = 31–9 | date = February 1998 | pmid = 9628581 | doi = 10.1093/dnares/5.1.31 }}
* {{cite journal | vauthors = Ueki N, Oda T, Kondo M, Yano K, Noguchi T, Muramatsu M | title = Selection system for genes encoding nuclear-targeted proteins | journal = Nature Biotechnology | volume = 16 | issue = 13 | pages = 1338–42 | date = December 1998 | pmid = 9853615 | doi = 10.1038/4315 }}
* {{cite journal | vauthors = Ueki N, Oda T, Kondo M, Yano K, Noguchi T, Muramatsu M | title = Selection system for genes encoding nuclear-targeted proteins | journal = Nature Biotechnology | volume = 16 | issue = 13 | pages = 1338–42 | date = December 1998 | pmid = 9853615 | doi = 10.1038/4315 }}
* {{cite journal | vauthors = Verschueren K, Remacle JE, Collart C, Kraft H, Baker BS, Tylzanowski P, Nelles L, Wuytens G, Su MT, Bodmer R, Smith JC, Huylebroeck D | title = SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes | journal = The Journal of Biological Chemistry | volume = 274 | issue = 29 | pages = 20489–98 | date = July 1999 | pmid = 10400677 | doi = 10.1074/jbc.274.29.20489 }}
* {{cite journal|authorlink5=Bruce Baker (geneticist) | vauthors = Verschueren K, Remacle JE, Collart C, Kraft H, Baker BS, Tylzanowski P, Nelles L, Wuytens G, Su MT, Bodmer R, Smith JC, Huylebroeck D | title = SIP1, a novel zinc finger/homeodomain repressor, interacts with Smad proteins and binds to 5'-CACCT sequences in candidate target genes | journal = The Journal of Biological Chemistry | volume = 274 | issue = 29 | pages = 20489–98 | date = July 1999 | pmid = 10400677 | doi = 10.1074/jbc.274.29.20489 }}
* {{cite journal | vauthors = 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 | title = Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease | journal = Nature Genetics | volume = 27 | issue = 4 | pages = 369–70 | date = April 2001 | pmid = 11279515 | doi = 10.1038/86860 }}
* {{cite journal | vauthors = 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 | title = Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease | journal = Nature Genetics | volume = 27 | issue = 4 | pages = 369–70 | date = April 2001 | pmid = 11279515 | doi = 10.1038/86860 }}
* {{cite journal | vauthors = Comijn J, Berx G, Vermassen P, Verschueren K, van Grunsven L, Bruyneel E, Mareel M, Huylebroeck D, van Roy F | title = The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion | journal = Molecular Cell | volume = 7 | issue = 6 | pages = 1267–78 | date = June 2001 | pmid = 11430829 | doi = 10.1016/S1097-2765(01)00260-X }}
* {{cite journal | vauthors = Comijn J, Berx G, Vermassen P, Verschueren K, van Grunsven L, Bruyneel E, Mareel M, Huylebroeck D, van Roy F | title = The two-handed E box binding zinc finger protein SIP1 downregulates E-cadherin and induces invasion | journal = Molecular Cell | volume = 7 | issue = 6 | pages = 1267–78 | date = June 2001 | pmid = 11430829 | doi = 10.1016/S1097-2765(01)00260-X }}

Latest revision as of 12:42, 6 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

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.[3]The structure of the homeodomain shown on the right.

ZEB2 interacts with receptor-mediated, activated full-length SMADs.[1] The activation of TGFβ receptors brings about the phosphorylation of intracellular effector molecules, R-SMADs. ZEB2 is an R-SMAD-binding protein and acts as a transcriptional corepressor.

ZEB2 transcripts are found in tissues differentiated from the neural crest such as the cranial nerve ganglia, dorsal root ganglia, sympathetic ganglionic chains, the enteric nervous system and melanocytes. ZEB2 is also found in tissues that are not derived from the neural crest, including the wall of the digestive tract, kidneys, and skeletal muscles.

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 gene as a whole. These deficits of ZEB2 protein interferes with the development of many organs. Many of the symptoms can be explained by the irregular development of the structures from the neural crest.[4]

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.[5]

References

  1. 1.0 1.1 "Entrez Gene: ZEB2 zinc finger E-box binding homeobox 2".
  2. Bassez G, Camand OJ, Cacheux V, Kobetz A, Dastot-Le Moal F, Marchant D, Catala M, Abitbol M, Goossens M (March 2004). "Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome". Neurobiology of Disease. 15 (2): 240–50. doi:10.1016/j.nbd.2003.10.004. PMID 15006694.
  3. Bürglin TR, Affolter M (June 2016). "Homeodomain proteins: an update". Chromosoma. 125 (3): 497–521. doi:10.1007/s00412-015-0543-8. PMID 26464018.
  4. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M (April 2007). "ZFHX1B mutations in patients with Mowat-Wilson syndrome". Human Mutation. 28 (4): 313–21. doi:10.1002/humu.20452. PMID 17203459.
  5. Saunders CJ, Zhao W, Ardinger HH (November 2009). "Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics". American Journal of Medical Genetics Part A. 149A (11): 2527–31. doi:10.1002/ajmg.a.33067. PMID 19842203.

Further reading

External links