Misplaced Pages

TWIST2
Identifiers
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
Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.3 Start 238,848,032 bp End 238,910,534 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 D Start 91,729,183 bp End 91,775,750 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium canal of the cervix ectocervix subcutaneous adipose tissue vagina lactiferous gland left uterine tube left ovary right ovary body of uterus Top expressed in dermis maxillary prominence mandibular prominence umbilical cord efferent ductule vas deferens condyle lamina propria of urethra fossa skin of abdomen More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein binding protein dimerization activity Cellular component cytoplasm nucleus nucleolus Biological process multicellular organism development cell differentiation negative regulation of apoptotic process negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated negative regulation of osteoblast differentiation transcription, DNA-templated positive regulation of cell migration Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 117581 13345 Ensembl ENSG00000233608 ENSG00000288335 ENSMUSG00000007805 UniProt Q8WVJ9 Q9D030 RefSeq (mRNA) NM_001271893 NM_057179 NM_007855 RefSeq (protein) NP_001258822 NP_476527 NP_031881 Location (UCSC) Chr 2: 238.85 – 238.91 Mb Chr 1: 91.73 – 91.78 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Twist-related protein 2 is a protein that in humans is encoded by the TWIST2 gene. 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.

Interactions

TWIST2 has been shown to interact with SREBF1.

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.

References

1. ^ ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000007805 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. ^ "Entrez Gene: TWIST2 twist homolog 2 (Drosophila)".
8. 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.
9. 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.

Further reading

• 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.

External links

• TWIST2+protein,+human at the U.S. 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.

This protein-related article is a stub. You can help Misplaced Pages by expanding it.

• v
• t
• e

• Genes on human chromosome 2
• Transcription factors
• Protein stubs