HEY2

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Hes-related family bHLH transcription factor with YRPW motif 2
Identifiers
Symbols HEY2 ; CHF1; GRIDLOCK; GRL; HERP1; HESR2; HRT2; bHLHb32
External IDs OMIM604674 MGI1341884 HomoloGene22705 GeneCards: HEY2 Gene
RNA expression pattern
PBB GE HEY2 219743 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23493 15214
Ensembl ENSG00000135547 ENSMUSG00000019789
UniProt Q9UBP5 Q9QUS4
RefSeq (mRNA) NM_012259 NM_013904
RefSeq (protein) NP_036391 NP_038932
Location (UCSC) Chr 6:
126.07 – 126.08 Mb
Chr 10:
30.83 – 30.84 Mb
PubMed search [1] [2]

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[edit]

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[edit]

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

Interactions[edit]

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

References[edit]

  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. doi:10.1016/S0925-4773(99)00080-5. PMID 10415358. 
  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. doi:10.1038/ng.2712. 
  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. doi:10.1016/S0006-291X(02)03020-6. PMID 12535671. 
  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. doi:10.1128/MCB.21.17.6080-6089.2001. PMC 87325. PMID 11486045. 

Further reading[edit]

External links[edit]

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