Species Human Entrez 23493 | Human Mouse Ensembl ENSG00000135547 | |
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Aliases HEY2, CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32, hes related family bHLH transcription factor with YRPW motif 2 External IDs MGI: 1341884 HomoloGene: 22705 GeneCards: HEY2 | ||
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.
Contents
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.
Clinical significance
Common variants of SCN5A, SCN10A, and HEY2 (this gene) are associated with Brugada syndrome.
Interactions
HEY2 has been shown to interact with Sirtuin 1 and Nuclear receptor co-repressor 1.