Hairy/enhancer-of-split related with YRPW motif protein 2 (HEY2) also known as cardiovascular helix-loop-helix factor 1 (CHF1) is a protein that in humans is encoded by the HEY2gene.[1][2]
CHF1 is a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signaling pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined.[2]
↑Leimeister C, Externbrink A, Klamt B, Gessler M (Sep 1999). "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis". Mech. Dev. 85 (1–2): 173–7. doi:10.1016/S0925-4773(99)00080-5. PMID10415358.
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↑Takata T, Ishikawa F (January 2003). "Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression". Biochem. Biophys. Res. Commun. 301 (1): 250–7. doi:10.1016/S0006-291X(02)03020-6. PMID12535671.
Iso T, Kedes L, Hamamori Y (2003). "HES and HERP families: multiple effectors of the Notch signaling pathway". J. Cell. Physiol. 194 (3): 237–55. doi:10.1002/jcp.10208. PMID12548545.
Kokubo H, Miyagawa-Tomita S, Johnson RL (2005). "Hesr, a mediator of the Notch signaling, functions in heart and vessel development". Trends Cardiovasc. Med. 15 (5): 190–4. doi:10.1016/j.tcm.2005.05.005. PMID16165016.
Chin MT, Maemura K, Fukumoto S, Jain MK, Layne MD, Watanabe M, Hsieh CM, Lee ME (2000). "Cardiovascular basic helix loop helix factor 1, a novel transcriptional repressor expressed preferentially in the developing and adult cardiovascular system". J. Biol. Chem. 275 (9): 6381–7. doi:10.1074/jbc.275.9.6381. PMID10692439.
Zhong TP, Rosenberg M, Mohideen MA, Weinstein B, Fishman MC (2000). "gridlock, an HLH gene required for assembly of the aorta in zebrafish". Science. 287 (5459): 1820–4. doi:10.1126/science.287.5459.1820. PMID10710309.
Steidl C, Leimeister C, Klamt B, Maier M, Nanda I, Dixon M, Clarke R, Schmid M, Gessler M (2000). "Characterization of the human and mouse HEY1, HEY2, and HEYL genes: cloning, mapping, and mutation screening of a new bHLH gene family". Genomics. 66 (2): 195–203. doi:10.1006/geno.2000.6200. PMID10860664.
Takata T, Ishikawa F (2003). "Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression". Biochem. Biophys. Res. Commun. 301 (1): 250–7. doi:10.1016/S0006-291X(02)03020-6. PMID12535671.
Fischer A, Klamt B, Schumacher N, Glaeser C, Hansmann I, Fenge H, Gessler M (2004). "Phenotypic variability in Hey2 -/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome". Mamm. Genome. 15 (9): 711–6. doi:10.1007/s00335-004-2389-x. PMID15389319.
Kokubo H, Miyagawa-Tomita S, Nakazawa M, Saga Y, Johnson RL (2005). "Mouse hesr1 and hesr2 genes are redundantly required to mediate Notch signaling in the developing cardiovascular system". Dev. Biol. 278 (2): 301–9. doi:10.1016/j.ydbio.2004.10.025. PMID15680351.
Doi H, Iso T, Yamazaki M, Akiyama H, Kanai H, Sato H, Kawai-Kowase K, Tanaka T, Maeno T, Okamoto E, Arai M, Kedes L, Kurabayashi M (2005). "HERP1 inhibits myocardin-induced vascular smooth muscle cell differentiation by interfering with SRF binding to CArG box". Arterioscler. Thromb. Vasc. Biol. 25 (11): 2328–34. doi:10.1161/01.ATV.0000185829.47163.32. PMID16151017.
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