Aliases for HEYL Gene
External Ids for HEYL Gene
Previous GeneCards Identifiers for HEYL Gene
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 sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for HEYL Gene
HEYL (Hes Related Family BHLH Transcription Factor With YRPW Motif-Like) is a Protein Coding gene. Diseases associated with HEYL include Cerebellopontine Angle Meningioma and Cerebellopontine Angle Tumor. Among its related pathways are Signaling by NOTCH1 and PI3K-Akt signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HEY2.
UniProtKB/Swiss-Prot for HEYL Gene
Downstream effector of Notch signaling which may be required for cardiovascular development (By similarity). Transcriptional repressor which binds preferentially to the canonical E box sequence 5-CACGTG-3 (By similarity). Represses transcription by the cardiac transcriptional activators GATA4 and GATA6.