Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene .[ 5] [ 6] [ 7] 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.[ 7]
Clinical significance
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1 2 3 ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335 – Ensembl , May 20171 2 3 GRCm38: Ensembl release 89: ENSMUSG00000007805 – 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 .↑ Li L, Cserjesi P, Olson EN (Dec 1995). "Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis" . Dev Biol . 172 (1): 280– 92. doi :10.1006/dbio.1995.0023 PMID 7589808 . ↑ Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM (Apr 1997). "The locations of the H-twist and H-dermo-1 genes are distinct on the human genome" . Biochim Biophys Acta . 1360 (1): 1– 2. doi :10.1016/s0925-4439(96)00071-3 PMID 9061034 . 1 2 "Entrez Gene: TWIST2 twist homolog 2 (Drosophila)" .↑ Lee, Yun Sok; Lee Hyoung Ho; Park Jiyoung; Yoo Eung Jae; Glackin Carlotta A; Choi Young Il; Jeon Sung Ho; Seong Rho Hyun; Park Sang Dai; Kim Jae Bum (Dec 2003). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c" . Nucleic Acids Res . 31 (24). England: 7165– 74. doi :10.1093/nar/gkg934 . PMC 291873 PMID 14654692 . ↑ Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara (2015-07-02). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes" . The American Journal of Human Genetics . 97 (1): 99– 110. doi :10.1016/j.ajhg.2015.05.017 . ISSN 0002-9297 . PMC 4572501 PMID 26119818 .
Volorio S, Simon G, Repetto M, et al. (1999). "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein". DNA Seq . 9 (5– 6): 307– 15. doi :10.3109/10425179809008469 . PMID 10524757 . Lee MS, Lowe G, Flanagan S, et al. (2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone . 27 (5): 591– 602. doi :10.1016/S8756-3282(00)00380-X . PMID 11062344 . Gong XQ, Li L (2002). "Dermo-1, a multifunctional basic helix-loop-helix protein, represses MyoD transactivation via the HLH domain, MEF2 interaction, and chromatin deacetylation" . J. Biol. Chem . 277 (14): 12310– 7. doi :10.1074/jbc.M110228200 PMID 11809751 . 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Lee YS, Lee HH, Park J, et al. (2004). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c" . Nucleic Acids Res . 31 (24): 7165– 74. doi :10.1093/nar/gkg934 . PMC 291873 PMID 14654692 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121– 7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Firulli BA, Krawchuk D, Centonze VE, et al. (2005). "Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities" . Nat. Genet . 37 (4): 373– 81. doi :10.1038/ng1525 . PMC 2568820 PMID 15735646 . Raval A, Lucas DM, Matkovic JJ, et al. (2005). "TWIST2 demonstrates differential methylation in immunoglobulin variable heavy chain mutated and unmutated chronic lymphocytic leukemia". J. Clin. Oncol . 23 (17): 3877– 85. doi :10.1200/JCO.2005.02.196 . PMID 15809452 . Terauchi M, Kajiyama H, Yamashita M, et al. (2007). "Possible involvement of TWIST in enhanced peritoneal metastasis of epithelial ovarian carcinoma". Clin. Exp. Metastasis . 24 (5): 329– 39. doi :10.1007/s10585-007-9070-1 . PMID 17487558 . S2CID 24243743 .
