hairy/enhancer-of-split related with YRPW motif 2 (cardiovascular helix-loop-helix factor 1, hairy & enhancer of split-related protein 2, HESR-2, hairy-related transcription factor 2, HES-related repressor protein 2, protein gridlock homolog, HEY2, CHF1, GRL, HERP, HERP1, HRT2)

Function: 1) participates in Notch signaling pathways 2) role downstream of Notch signaling in vascular development (putative) 3) roles in cardiovascular development & ventricular septation 4) binds to the canonical E box sequence 5'-CACGTG-3' 5) role as transcriptional repressor (putative) Structure: - contains 1 basic helix-loop-helix (bHLH) domain - contains 1 Orange domain Compartment: nucleus (probable). Expression: - induced by overexpression of constitutively active Notch intracellular domain Pathology: - defects in HEY2 may be involved in atrioventricular septal defects

General

hairy & enhancer of split (HES) transcriptional silencer (transcriptional repressor)

Properties

SIZE: MW = 36 kD entity length = 337 aa COMPARTMENT: cell nucleus MOTIF: DNA-binding motif SITE: 49-61 helix-loop-helix NAME: helix-loop-helix SITE: 62-104 FOR-BINDING-VIA: helix-loop-helix Orange {122-157} histidine-rich region {175-191} MOTIF: histidine residue (SEVERAL) alanine-rich region {262-302} MOTIF: alanine residue (SEVERAL) YRPW {327-330}

Database Correlations

OMIM 604674 UniProt Q9UBP5 PFAM correlations

References

UniProt :accession Q9UBP5