Biology:TWIST2
 Generic protein structure example |
Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene.[1][2][3] 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.[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
- ↑ "Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis". Dev Biol 172 (1): 280–92. Dec 1995. doi:10.1006/dbio.1995.0023. PMID 7589808.
- ↑ "The locations of the H-twist and H-dermo-1 genes are distinct on the human genome". Biochim Biophys Acta 1360 (1): 1–2. Apr 1997. doi:10.1016/s0925-4439(96)00071-3. PMID 9061034.
- ↑ 3.0 3.1 "Entrez Gene: TWIST2 twist homolog 2 (Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=117581.
- ↑ Lee, Yun Sok; Lee Hyoung Ho; Park Jiyoung; Yoo Eung Jae; Glackin Carlotta A; Choi Young Il; Jeon Sung Ho; Seong Rho Hyun et al. (Dec 2003). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Res. (England) 31 (24): 7165–74. doi:10.1093/nar/gkg934. PMID 14654692.
- ↑ Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise et al. (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. PMID 26119818.
Further reading
- "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein". DNA Seq. 9 (5–6): 307–15. 1999. doi:10.3109/10425179809008469. PMID 10524757.
- "Human Dermo-1 has attributes similar to twist in early bone development". Bone 27 (5): 591–602. 2000. doi:10.1016/S8756-3282(00)00380-X. PMID 11062344.
- "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. 2002. doi:10.1074/jbc.M110228200. PMID 11809751.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Res. 31 (24): 7165–74. 2004. doi:10.1093/nar/gkg934. PMID 14654692.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities". Nat. Genet. 37 (4): 373–81. 2005. doi:10.1038/ng1525. PMID 15735646.
- "TWIST2 demonstrates differential methylation in immunoglobulin variable heavy chain mutated and unmutated chronic lymphocytic leukemia". J. Clin. Oncol. 23 (17): 3877–85. 2005. doi:10.1200/JCO.2005.02.196. PMID 15809452.
- "Possible involvement of TWIST in enhanced peritoneal metastasis of epithelial ovarian carcinoma". Clin. Exp. Metastasis 24 (5): 329–39. 2007. doi:10.1007/s10585-007-9070-1. PMID 17487558.
External links
- TWIST2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 |
