Disease-gene associations mined from literature

Literature associating HEY2 and hypoplastic left heart syndrome

HEY2 [ENSP00000357348]

Hes-related family bHLH transcription factor with YRPW motif 2; 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; Belongs to the HEY family.

Synonyms:  HEY2,  HEY2p,  hHEY2,  B4E1L3,  Q5TF93 ...

Linkouts:  STRING  Pharos  UniProt  OMIM