Twist-related protein 2

{{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Twist-related protein 2''' is a protein that in humans is encoded by the ''TWIST2'' gene.<ref name="pmid7589808">{{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 | doi = 10.1006/dbio.1995.0023 | doi-access = free }}</ref><ref name="pmid9061034">{{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 | doi = 10.1016/s0925-4439(96)00071-3| doi-access = free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TWIST2 twist homolog 2 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=117581}}</ref> The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.<ref name="entrez" />

==Interactions== TWIST2 has been shown to interact with SREBF1.<ref name=pmid14654692>{{cite journal |last=Lee |first=Yun Sok |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 |location = England| pmid = 14654692 |doi=10.1093/nar/gkg934 |pmc=291873 }}</ref>

==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.<ref>{{Cite journal|last1=Marchegiani|first1=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}}</ref>

==References== {{reflist}}

==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 |doi-access= free }} *{{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 |doi-access=free }} *{{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 |s2cid=24243743 }} {{refend}}

== External links == * {{MeshName|TWIST2+protein,+human}}

Category:Transcription factors