HEY2, BHLHB32, CHF1, GRL, HERP, HERP1, HRT2, Hairy/enhancer-of-split related with YRPW motif protein 2, Cardiovascular helix-loop-helix factor 1, hCHF1, Class B basic helix-loop-helix protein 32, bHLHb32, HES-related repressor protein 2, Ha
This gene encodes 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 signal transduction 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. [provided by RefSeq, Jul 2008],disease:Defects in HEY2 may be involved in atrioventricular septal defects (AVSD).,function:Downstream effector of Notch signaling which may be required for cardiovascular development. Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.,similarity:Belongs to the HEY family.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,similarity:Contains 1 Orange domain.,subunit:May self-associate (By similarity). Interacts with GATA4, HES1 and HEYL (By similarity). Interacts with HDAC1, NCOR1 and SIN3A (By similarity). Interacts with ARNT and GATA6.,
