HEY2

Also known as CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32, hes related family bHLH transcription factor with YRPW motif 2

Hairy/enhancer-of-split related with YRPW motif protein 2 (HEY2) also known as cardiovascular helix-loop-helix factor 1 (CHF1) is a protein that in humans is encoded by the HEY2 gene.

Gene data

HEY2

Name: hes related family bHLH transcription factor with YRPW motif 2
Type: protein-coding
Position: 125,747,664–125,761,269 (+)
Aliases: CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32
Ensembl: ENSG00000135547
RefSeq RNA: NM_012259.3, XM_017010627.2, XM_017010628.2, XM_054354945.1, XM_054354946.1
RefSeq protein: NP_036391.1, XP_016866116.1, XP_016866117.1, XP_054210920.1, XP_054210921.1

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].

Gene Ontology

Biological process

negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II vasculogenesis muscular septum morphogenesis muscular septum morphogenesis

Molecular function

RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific cis-regulatory region sequence-specific DNA binding cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific

Cellular component

chromatin nucleus nucleus nucleus nucleoplasm nucleoplasm cytoplasm cytoplasm

Pathways

Notch signaling pathway - Homo sapiens (human)Human papillomavirus infection - Homo sapiens (human)Pathways in cancer - Homo sapiens (human)Breast cancer - Homo sapiens (human)Developmental Biology Signaling by NOTCH Signaling by NOTCH Signal Transduction Signal Transduction Disease

via MyGene.info

Research

435 papers

The transcriptional repressor HEY2 regulates mitochondrial oxidative respiration to maintain cardiac homeostasis.Nature communications · 2025
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
Human Genetics of Ventricular Septal Defect.Advances in experimental medicine and biology · 2024
Hey2 enhancer activity defines unipotent progenitors for left ventricular cardiomyocytes in juxta-cardiac field of early mouse embryo.Proceedings of the National Academy of Sciences of the United States of America · 2023
Hey2 regulates the size of the cardiac progenitor pool during vertebrate heart development.Development (Cambridge, England) · 2018

via PubMed

Wikidata facts

Show 5 more facts

HomoloGene ID: 22705
exact match: identifiers.org/ncbigene/23493
genomic end: 126082415
genomic start: 126068810
cytogenetic location: 6q22.31

Sources (4)

via Wikidata · CC0

~2 min read

Article

7 sections

Contents

Expression
Knockout studies
Clinical significance
Interactions
References
Further reading
External links

Hairy/enhancer-of-split related with YRPW motif protein 2 (HEY2) also known as cardiovascular helix-loop-helix factor 1 (CHF1) is a protein that in humans is encoded by the HEY2 gene.

This protein is a type of transcription factor that belongs to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. It forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. During embryonic development, this mechanism is used to control the number of cells that develop into cardiac progenitor cells and myocardial cells. The relationship is inversely related, so as the number of cells that express the Hey2 gene increases, the more CHF1 is present to repress transcription and the number of cells that take on a myocardial fate decreases.