HEY2

HEY2
Identifiers
Aliases	HEY2, CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32, hes related family bHLH transcription factor with YRPW motif 2
External IDs	MGI: 1341884 HomoloGene: 22705 GeneCards: HEY2
Gene location (Human)
Chr.	Chromosome 6 (human)[1]
End	125,761,269 bp[1]
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[2]
End	30,842,801 bp[2]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• microsatellite binding; • sequence-specific DNA binding; • DNA binding; • protein dimerization activity; • protein homodimerization activity; • transcription factor activity, sequence-specific DNA binding; • transcription factor binding; • histone deacetylase binding; • transcription factor activity, RNA polymerase II core promoter sequence-specific; • RNA polymerase II activating transcription factor binding; • protein binding; • protein heterodimerization activity; • transcription factor activity, transcription factor binding; • RNA polymerase II transcription factor activity, sequence-specific DNA binding; • RNA polymerase II regulatory region sequence-specific DNA binding; • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding; • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding; • transcription corepressor activity; • sequence-specific double-stranded DNA binding;
Cellular component	• cytoplasm; • transcriptional repressor complex; • Sin3 complex; • nucleoplasm; • cell 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 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 from RNA polymerase II promoter; • 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 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 from RNA polymerase II promoter; • 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;
	Sources:Amigo / QuickGO
Orthologs
	23493
	15214
	ENSG00000135547
	ENSMUSG00000019789
	Q9UBP5; Q5TF93
	Q9QUS4
	NM_012259
	NM_013904
	NP_036391
	NP_038932
	Wikidata
View/Edit Human	View/Edit Mouse

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]

Function

CHF1 is 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 signaling 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.^[6]

Clinical significance

Common variants of SCN5A, SCN10A, and HEY2 (this gene) are associated with Brugada syndrome.^[7]

Interactions

HEY2 has been shown to interact with Sirtuin 1^[8] and Nuclear receptor co-repressor 1.^[9]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000135547 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019789 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Leimeister C, Externbrink A, Klamt B, Gessler M (Sep 1999). "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis". Mech. Dev. 85 (1–2): 173–7. doi:10.1016/S0925-4773(99)00080-5. PMID 10415358.
1 2 "Entrez Gene: HEY2 hairy/enhancer-of-split related with YRPW motif 2".
↑ Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R (2013). "Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death". Nat. Genet. 45 (9): 1044–9. doi:10.1038/ng.2712. PMC 3869788. PMID 23872634.
↑ Takata T, Ishikawa F (January 2003). "Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression". Biochem. Biophys. Res. Commun. 301 (1): 250–7. doi:10.1016/S0006-291X(02)03020-6. PMID 12535671.
↑ Iso T, Sartorelli V, Poizat C, Iezzi S, Wu HY, Chung G, Kedes L, Hamamori Y (September 2001). "HERP, a novel heterodimer partner of HES/E(spl) in Notch signaling". Mol. Cell. Biol. 21 (17): 6080–9. doi:10.1128/MCB.21.17.6080-6089.2001. PMC 87325. PMID 11486045.

External links

HEY2+protein,+human at the US 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.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000135547 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000019789 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[pmid10415358-5] Leimeister C, Externbrink A, Klamt B, Gessler M (Sep 1999). "Hey genes: a novel subfamily of hairy- and Enhancer of split related genes specifically expressed during mouse embryogenesis". Mech. Dev. 85 (1–2): 173–7. doi:10.1016/S0925-4773(99)00080-5. PMID 10415358.

[entrez-6] 1 2 "Entrez Gene: HEY2 hairy/enhancer-of-split related with YRPW motif 2".

[Bezzina_Barc_2013-7] Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R (2013). "Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death". Nat. Genet. 45 (9): 1044–9. doi:10.1038/ng.2712. PMC 3869788. PMID 23872634.

[pmid12535671-8] Takata T, Ishikawa F (January 2003). "Human Sir2-related protein SIRT1 associates with the bHLH repressors HES1 and HEY2 and is involved in HES1- and HEY2-mediated transcriptional repression". Biochem. Biophys. Res. Commun. 301 (1): 250–7. doi:10.1016/S0006-291X(02)03020-6. PMID 12535671.

[pmid11486045-9] Iso T, Sartorelli V, Poizat C, Iezzi S, Wu HY, Chung G, Kedes L, Hamamori Y (September 2001). "HERP, a novel heterodimer partner of HES/E(spl) in Notch signaling". Mol. Cell. Biol. 21 (17): 6080–9. doi:10.1128/MCB.21.17.6080-6089.2001. PMC 87325. PMID 11486045.