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Twist-related protein 2

From Wikipedia, the free encyclopedia
TWIST2
Identifiers
AliasesTWIST2, DERMO1, FFDD3, SETLSS, bHLHa39, AMS, BBRSAY, twist family bHLH transcription factor 2
External IDsOMIM: 607556; MGI: 104685; HomoloGene: 40594; GeneCards: TWIST2; OMA:TWIST2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001271893
NM_057179

NM_007855

RefSeq (protein)

NP_001258822
NP_476527

NP_031881

Location (UCSC)Chr 2: 238.85 – 238.91 MbChr 1: 91.73 – 91.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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TWIST2 has been shown to interact with SREBF1.[8]

Clinical significance

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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

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  1. ^ a b c ENSG00000288335 GRCh38: Ensembl release 89: ENSG00000233608, ENSG00000288335Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007805Ensembl, 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. ^ a b "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

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.