• Gene id: 23493

Gene Summary

• Gene Symbol: HEY2   Gene   UCSC   Ensembl
• Aliases: CHF1, GRIDLOCK, GRL, HERP1, HESR2, HRT2, bHLHb32
• Gene name: hes related family bHLH transcription factor with YRPW motif 2
• Alternate names: hairy/enhancer-of-split related with YRPW motif protein 2, HES-related repressor protein 1, HES-related repressor protein 2, HESR-2, HRT-2, cardiovascular basic helix-loop-helix factor 1, cardiovascular helix-loop-helix factor 1, class B basic helix-loop-helix p,
• Gene location: 6q22.31 (125747638: 125762242)     Exons: 7     NC_000006.12
• Gene summary(Entrez): 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 deac
• OMIM: 604674

Protein Summary

• Protein general information: Q9UBP5  
  • Name: Hairy/enhancer of split related with YRPW motif protein 2 (Cardiovascular helix loop helix factor 1) (hCHF1) (Class B basic helix loop helix protein 32) (bHLHb32) (HES related repressor protein 2) (Hairy and enhancer of split related protein 2) (HESR 2) (
  • Length: 337  
  • Mass: 35808
• Sequence:

  MKRPCEETTSESDMDETIDVGSENNYSGQSTSSVIRLNSPTTTSQIMARKKRRGIIEKRRRDRINNSLSELRRLV
  PTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALAMDFMSIGFRECLTEVARYLSSVEGLDSSDPLR
  VRLVSHLSTCATQREAAAMTSSMAHHHHPLHPHHWAAAFHHLPAALLQPNGLHASESTPCRLSTTSEVPPAHGSA
  LLTATFAHADSALRMPSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAFPMLPPNAAAAVAAA
  TAISPPLSVSATSSPQQTSSGTNNKPYRPWGTEVGAF

• Structural information:
  • Protein Domains: (48..10-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981-)
    (122..15-)
    (/note="Orange-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00380"-)
  • Interpro: IPR011598  IPR036638  IPR003650  
  • Prosite: PS50888 PS51054
  • CDD: cd00083
  • STRING: ENSP00000357348
• Other Databases: GeneCards:  HEY2  Malacards:  HEY2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0009952	anterior/posterior pattern specification	IBA	biological process
GO:0007219	Notch signaling pathway	IBA	biological process
GO:0072359	circulatory system development	IBA	biological process
GO:0050767	regulation of neurogenesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0003171	atrioventricular valve development	IEA	biological process
GO:0003199	endocardial cushion to mesenchymal transition involved in heart valve formation	IEA	biological process
GO:0003208	cardiac ventricle morphogenesis	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0010460	positive regulation of heart rate	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0014898	cardiac muscle hypertrophy in response to stress	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0045165	cell fate commitment	IEA	biological process
GO:0045607	regulation of inner ear auditory receptor cell differentiation	IEA	biological process
GO:0045746	negative regulation of Notch signaling pathway	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0055015	ventricular cardiac muscle cell development	IEA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	IEA	biological process
GO:0060413	atrial septum morphogenesis	IEA	biological process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0060840	artery development	IEA	biological process
GO:0060842	arterial endothelial cell differentiation	IEA	biological process
GO:0060948	cardiac vascular smooth muscle cell development	IEA	biological process
GO:0065004	protein-DNA complex assembly	IEA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IEA	biological process
GO:2000820	negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0003150	muscular septum morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003184	pulmonary valve morphogenesis	IEA	biological process
GO:0003186	tricuspid valve morphogenesis	IEA	biological process
GO:0003195	tricuspid valve formation	IEA	biological process
GO:0003214	cardiac left ventricle morphogenesis	IEA	biological process
GO:0003215	cardiac right ventricle morphogenesis	IEA	biological process
GO:0003300	cardiac muscle hypertrophy	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007389	pattern specification process	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0009948	anterior/posterior axis specification	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014031	mesenchymal cell development	IEA	biological process
GO:0035910	ascending aorta morphogenesis	IEA	biological process
GO:0035912	dorsal aorta morphogenesis	IEA	biological process
GO:0036304	umbilical cord morphogenesis	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060347	heart trabecula formation	IEA	biological process
GO:0060411	cardiac septum morphogenesis	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060977	coronary vasculature morphogenesis	IEA	biological process
GO:0061156	pulmonary artery morphogenesis	IEA	biological process
GO:0070168	negative regulation of biomineral tissue development	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:2001212	regulation of vasculogenesis	IEA	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0061314	Notch signaling involved in heart development	TAS	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	TAS	biological process
GO:0070168	negative regulation of biomineral tissue development	ISS	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0016580	Sin3 complex	IDA	colocalizes with
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:2000678	negative regulation of transcription regulatory region DNA binding	IDA	biological process
GO:0001570	vasculogenesis	ISS	biological process
GO:0010621	negative regulation of transcription by transcription factor localization	ISS	biological process
GO:0060317	cardiac epithelial to mesenchymal transition	ISS	biological process
GO:0060413	atrial septum morphogenesis	ISS	biological process
GO:0060716	labyrinthine layer blood vessel development	ISS	biological process
GO:0060842	arterial endothelial cell differentiation	ISS	biological process
GO:2000723	negative regulation of cardiac vascular smooth muscle cell differentiation	ISS	biological process
GO:2000820	negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0017053	transcription repressor complex	IDA	cellular component
GO:0060633	negative regulation of transcription initiation from RNA polymerase II promoter	IDA	biological process
GO:0061314	Notch signaling involved in heart development	IC	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0003150	muscular septum morphogenesis	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0003186	tricuspid valve morphogenesis	ISS	biological process
GO:0003214	cardiac left ventricle morphogenesis	ISS	biological process
GO:0003215	cardiac right ventricle morphogenesis	ISS	biological process
GO:0014031	mesenchymal cell development	ISS	biological process
GO:0035910	ascending aorta morphogenesis	ISS	biological process
GO:0035912	dorsal aorta morphogenesis	ISS	biological process
GO:0036304	umbilical cord morphogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0051145	smooth muscle cell differentiation	NAS	biological process
GO:0060411	cardiac septum morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0061156	pulmonary artery morphogenesis	ISS	biological process
GO:2001212	regulation of vasculogenesis	ISS	biological process
GO:0003180	aortic valve morphogenesis	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0008134	transcription factor binding	NAS	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0055015	ventricular cardiac muscle cell development	ISS	biological process
GO:0007219	Notch signaling pathway	ISS	biological process
GO:0003208	cardiac ventricle morphogenesis	ISS	biological process
GO:0097084	vascular smooth muscle cell development	IEP	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05224	Breast cancer
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq