Twist-related protein 2
(Redirected from TWIST2)
| TWIST2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | TWIST2, DERMO1, FFDD3, SETLSS, bHLHa39, AMS, BBRSAY, twist family bHLH transcription factor 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607556; MGI: 104685; HomoloGene: 40594; GeneCards: TWIST2; OMA:TWIST2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene.[5][6][7] 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.[7]
Interactions
[edit]Clinical significance
[edit]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.[9]
References
[edit]- 1 2 3 ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335 – Ensembl, May 2017
- 1 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 (December 1995). "Dermo-1: a novel twist-related bHLH protein expressed in the developing dermis". Developmental Biology. 172 (1): 280–292. doi:10.1006/dbio.1995.0023. PMID 7589808.
- ↑ Perrin-Schmitt F, Bolcato-Bellemin AL, Bourgeois P, Stoetzel C, Danse JM (April 1997). "The locations of the H-twist and H-dermo-1 genes are distinct on the human genome". Biochimica et Biophysica 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 YS, Lee HH, Park J, Yoo EJ, Glackin CA, Choi YI, et al. (December 2003). "Twist2, a novel ADD1/SREBP1c interacting protein, represses the transcriptional activity of ADD1/SREBP1c". Nucleic Acids Research. 31 (24): 7165–7174. doi:10.1093/nar/gkg934. PMC 291873. PMID 14654692.
- ↑ Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, et al. (July 2015). "Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes". American Journal of Human Genetics. 97 (1): 99–110. doi:10.1016/j.ajhg.2015.05.017. PMC 4572501. PMID 26119818.
Further reading
[edit]- Volorio S, Simon G, Repetto M, Cucciardi M, Banfi S, Borsani G, et al. (1998). "Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein". DNA Sequence. 9 (5–6): 307–315. doi:10.3109/10425179809008469. PMID 10524757.
- Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (November 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". The Journal of Biological Chemistry. 277 (14): 12310–12317. doi:10.1074/jbc.M110228200. PMID 11809751.
- Firulli BA, Krawchuk D, Centonze VE, Vargesson N, Virshup DM, Conway SJ, et al. (April 2005). "Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities". Nature Genetics. 37 (4): 373–381. doi:10.1038/ng1525. PMC 2568820. PMID 15735646.
- Raval A, Lucas DM, Matkovic JJ, Bennett KL, Liyanarachchi S, Young DC, et al. (June 2005). "TWIST2 demonstrates differential methylation in immunoglobulin variable heavy chain mutated and unmutated chronic lymphocytic leukemia". Journal of Clinical Oncology. 23 (17): 3877–3885. doi:10.1200/JCO.2005.02.196. PMID 15809452.
- Terauchi M, Kajiyama H, Yamashita M, Kato M, Tsukamoto H, Umezu T, et al. (2007). "Possible involvement of TWIST in enhanced peritoneal metastasis of epithelial ovarian carcinoma". Clinical & Experimental Metastasis. 24 (5): 329–339. doi:10.1007/s10585-007-9070-1. PMID 17487558. S2CID 24243743.
External links
[edit]- TWIST2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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