HEY2

HEY2
Identifiers
Aliases	HEY2, CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32, hes related family bHLH transcription factor with YRPW motif 2
External IDs	OMIM: 604674 MGI: 1341884 HomoloGene: 22705 GeneCards: HEY2
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q22.31 Start 125,747,664 bp[1] End 125,761,269 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 A4 Start 30,708,355 bp[2] End 30,718,797 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in popliteal artery right ventricle right coronary artery oocyte secondary oocyte right uterine tube corpus epididymis left coronary artery ascending aorta caput epididymis Top expressed in trigeminal ganglion ascending aorta left ventricle cumulus cell semi-lunar valve aortic valve external carotid artery spinal nerve maxillary prominence atrioventricular valve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function microsatellite binding sequence-specific DNA binding DNA binding protein dimerization activity protein homodimerization activity DNA-binding transcription factor activity transcription factor binding histone deacetylase binding RNA polymerase II general transcription initiation factor activity protein binding protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific transcription corepressor activity sequence-specific double-stranded DNA binding Cellular component cytoplasm transcription repressor complex Sin3 complex nucleoplasm nucleus Biological process dorsal aorta morphogenesis cardiac vascular smooth muscle cell development cochlea development pattern specification process cell fate commitment pulmonary valve morphogenesis regulation of inner ear auditory receptor cell differentiation negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation regulation of transcription, DNA-templated heart trabecula formation tricuspid valve morphogenesis regulation of vasculogenesis pulmonary artery morphogenesis cardiac septum morphogenesis negative regulation of cardiac vascular smooth muscle cell differentiation muscular septum morphogenesis ventricular septum morphogenesis protein-DNA complex assembly cardiac muscle hypertrophy outflow tract morphogenesis ascending aorta morphogenesis cardiac left ventricle morphogenesis labyrinthine layer blood vessel development negative regulation of transcription by RNA polymerase II coronary vasculature morphogenesis smooth muscle cell differentiation negative regulation of gene expression endocardial cushion to mesenchymal transition involved in heart valve formation transcription, DNA-templated ventricular trabecula myocardium morphogenesis positive regulation of heart rate vasculogenesis multicellular organism development atrial septum morphogenesis negative regulation of cardiac muscle cell apoptotic process heart development arterial endothelial cell differentiation positive regulation of cardiac muscle cell proliferation blood vessel development cardiac muscle hypertrophy in response to stress umbilical cord morphogenesis negative regulation of transcription regulatory region DNA binding mesenchymal cell development artery development regulation of gene expression negative regulation of transcription by transcription factor localization negative regulation of transcription initiation from RNA polymerase II promoter vascular associated smooth muscle cell development anterior/posterior axis specification tricuspid valve formation negative regulation of transcription, DNA-templated cardiac ventricle morphogenesis cardiac right ventricle morphogenesis ventricular cardiac muscle cell development atrioventricular valve development positive regulation of transcription by RNA polymerase II negative regulation of Notch signaling pathway cardiac epithelial to mesenchymal transition Notch signaling involved in heart development Notch signaling pathway positive regulation of transcription, DNA-templated cell differentiation regulation of neurogenesis aortic valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of gene expression negative regulation of biomineral tissue development anterior/posterior pattern specification circulatory system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23493 15214 Ensembl ENSG00000135547 ENSMUSG00000019789 UniProt Q9UBP5 Q5TF93 Q9QUS4 RefSeq (mRNA) NM_012259 NM_013904 RefSeq (protein) NP_036391 NP_038932 Location (UCSC) Chr 6: 125.75 – 125.76 Mb Chr 10: 30.71 – 30.72 Mb PubMed search [3] [4]
Wikidata
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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.^[5][6]

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. ^[7] 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. ^[7]

Expression

The expression of the Hey2 gene is induced by the Notch signaling pathway. In this mechanism, adjacent cells bind via transmembrane notch receptors. 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.^[6]

Knockout studies

The Hey2 gene is involved with the formation of the cardiovascular system and especially the heart itself. ^[7] Although studies have not been conducted about the effects of a malfunction in Hey2 expression in humans, experiments done with mice suggest this gene could be responsible for a number of heart defects. Using a gene knockout technique, scientists inactivated both the Hey1 and Hey2 genes of mice.^[8] The loss of these two genes resulted in death of the embryo 9.5 days after conception.^[8] It was found that the developing hearts of these embryos lacked most structural formations which resulted in massive hemorrhage.^[8] When only the Hey1 gene was knocked out, no apparent phenotypic changes occurred, suggesting that these two genes carry similar and redundant information for the development of the heart.^[8]

Clinical significance

Common variants of SCN5A, SCN10A, and HEY2 (this gene) are associated with Brugada syndrome.^[9]

Interactions

HEY2 has been shown to interact with Sirtuin 1^[10] and Nuclear receptor co-repressor 1.^[11]

References

Further reading

External links

• HEY2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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