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词条 TWIST2
释义

  1. Interactions

  2. Clinical significance

  3. References

  4. Further reading

  5. External links

{{Infobox_gene}}Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene.[1][2][3]{{PBB_Summary
| section_title =
| summary_text = Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Twist. It is thought that during osteoblast development this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.[3]
}}

Interactions

TWIST2 has been shown to interact with SREBF1.[4]

Clinical significance

Mutations in the TWIST2 gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with Ablepharon macrostomia syndrome and Barber–Say syndrome.[5]

References

1. ^{{cite journal |vauthors=Li L, Cserjesi P, Olson EN | title = Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis | journal = Dev Biol | volume = 172 | issue = 1 | pages = 280–92 |date=Dec 1995 | pmid = 7589808 | pmc = | doi = 10.1006/dbio.1995.0023 }}
2. ^{{cite journal |vauthors=Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM | title = The locations of the H-twist and H-dermo-1 genes are distinct on the human genome | journal = Biochim Biophys Acta | volume = 1360 | issue = 1 | pages = 1–2 |date=Apr 1997 | pmid = 9061034 | pmc = | doi = 10.1016/s0925-4439(96)00071-3}}
3. ^1 {{cite web | title = Entrez Gene: TWIST2 twist homolog 2 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=117581| accessdate = }}
4. ^{{cite journal |last=Lee |first=Yun Sok |authorlink= |author2=Lee Hyoung Ho |author3=Park Jiyoung |author4=Yoo Eung Jae |author5=Glackin Carlotta A |author6=Choi Young Il |author7=Jeon Sung Ho |author8=Seong Rho Hyun |author9=Park Sang Dai |author10=Kim Jae Bum |date=Dec 2003 |title=Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c |journal=Nucleic Acids Res. |volume=31 |issue=24 |pages=7165–74 |publisher= |location = England| pmid = 14654692 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1093/nar/gkg934 |pmc=291873 }}
5. ^{{Cite journal|last=Marchegiani|first=Shannon|last2=Davis|first2=Taylor|last3=Tessadori|first3=Federico|last4=van Haaften|first4=Gijs|last5=Brancati|first5=Francesco|last6=Hoischen|first6=Alexander|last7=Huang|first7=Haigen|last8=Valkanas|first8=Elise|last9=Pusey|first9=Barbara|date=2015-07-02|title=Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes|journal=The American Journal of Human Genetics|volume=97|issue=1|pages=99–110|doi=10.1016/j.ajhg.2015.05.017|pmid=26119818|pmc=4572501|issn=0002-9297}}

Further reading

{{refbegin | 2}}
  • {{cite journal |vauthors=Volorio S, Simon G, Repetto M, etal |title=Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein |journal=DNA Seq. |volume=9 |issue= 5–6 |pages= 307–15 |year= 1999 |pmid= 10524757 |doi=10.3109/10425179809008469 }}
  • {{cite journal |vauthors=Lee MS, Lowe G, Flanagan S, etal |title=Human Dermo-1 has attributes similar to twist in early bone development |journal=Bone |volume=27 |issue= 5 |pages= 591–602 |year= 2000 |pmid= 11062344 |doi=10.1016/S8756-3282(00)00380-X }}
  • {{cite journal |vauthors=Gong XQ, Li L |title=Dermo-1, a multifunctional basic helix-loop-helix protein, represses MyoD transactivation via the HLH domain, MEF2 interaction, and chromatin deacetylation |journal=J. Biol. Chem. |volume=277 |issue= 14 |pages= 12310–7 |year= 2002 |pmid= 11809751 |doi= 10.1074/jbc.M110228200 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M }}
  • {{cite journal |vauthors=Lee YS, Lee HH, Park J, etal |title=Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c |journal=Nucleic Acids Res. |volume=31 |issue= 24 |pages= 7165–74 |year= 2004 |pmid= 14654692 |doi=10.1093/nar/gkg934 | pmc=291873 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
  • {{cite journal |vauthors=Firulli BA, Krawchuk D, Centonze VE, etal |title=Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities |journal=Nat. Genet. |volume=37 |issue= 4 |pages= 373–81 |year= 2005 |pmid= 15735646 |doi= 10.1038/ng1525 | pmc=2568820 }}
  • {{cite journal |vauthors=Raval A, Lucas DM, Matkovic JJ, etal |title=TWIST2 demonstrates differential methylation in immunoglobulin variable heavy chain mutated and unmutated chronic lymphocytic leukemia |journal=J. Clin. Oncol. |volume=23 |issue= 17 |pages= 3877–85 |year= 2005 |pmid= 15809452 |doi= 10.1200/JCO.2005.02.196 }}
  • {{cite journal |vauthors=Terauchi M, Kajiyama H, Yamashita M, etal |title=Possible involvement of TWIST in enhanced peritoneal metastasis of epithelial ovarian carcinoma |journal=Clin. Exp. Metastasis |volume=24 |issue= 5 |pages= 329–39 |year= 2007 |pmid= 17487558 |doi= 10.1007/s10585-007-9070-1 }}
{{refend}}

External links

  • {{MeshName|TWIST2+protein,+human}}
{{NLM content}}{{Transcription factors}}{{protein-stub}}

1 : Transcription factors
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