HES-Related Family bHLH Transcription Factor with YRPW Motif 2

Alternative Names

  • HEY2
  • Hairy/Enhancer of Split-Related with YRPW Motif 2
  • Cardiovascular Basic-Loop-Helix Factor
  • CHF1, FORMERLY
  • Hairy/Enhancer of Split-Related Repressor Protein 1
  • HERP1
  • Gridlock
  • GRL
  • Hairy-Related Transcription Factor 2
  • HRT2

Associated Diseases

Ventricular Septal Defect 1
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OMIM Number

604674

NCBI Gene ID

23493

Uniprot ID

Q9UBP5

Length

14,605 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Hairy/enhancer-of-split related with YRPW motif protein 2

Molecular Mass

35808 Da

Amino Acid Count

337

Genomic Location

chr6:125,747,639-125,762,243

Gene Map Locus
6q22.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_012259.3:c.486_564delLebanonchr6:125759274-125759352PathogenicPathogenicVentricular Septal Defect 1NM_012259.3:c.486_564del
NM_012259.3:c.685G>ALebanonchr6:125759473PathogenicVentricular Septal Defect 1NM_012259.3:c.685G>A; NP_036391.1:p.Ala229Thr
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