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Hey2

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Hey2

Hes-related family bHLH transcription factor with YRPW motif 2
Identifiers
Symbols  ; CHF1; GRIDLOCK; GRL; HERP1; HESR2; HRT2; bHLHb32
External IDs GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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 HEY2 gene.[1][2]

Function

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]

Clinical significance

Common variants of SCN5A, SCN10A, and HEY2 (this gene) are associated with Brugada syndrome.[3]

Interactions

HEY2 has been shown to interact with Sirtuin 1[4] and Nuclear receptor co-repressor 1.[5]

References

  1. ^ 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.  
  2. ^ a b "Entrez Gene: HEY2 hairy/enhancer-of-split related with YRPW motif 2". 
  3. ^ Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud J-B, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, et al. (2013). "Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death". Nature Genetics.  
  4. ^ 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.  
  5. ^ Iso T, Sartorelli V, Poizat C, Iezzi S, Wu HY, Chung G, Kedes L, Hamamori Y (September 2001). "HERP, a novel heterodimer partner of HES/E(spl) in Notch signaling". Mol. Cell. Biol. 21 (17): 6080–9.  

Further reading

External links

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


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