HEY2 - hes related family bHLH transcription factor with YRPW motif 2 Gene

Also Known as GRL; CHF1; HRT2; HERP1; HESR2; bHLHb32; GRIDLOCK

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23493

About HEY2

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:125,749,632-125,761,269 (from NCBI)

This gene has 2 transcripts (splice variants), 205 orthologues, 12 paralogues and is associated with 1 phenotype. Broad expression in endometrium (RPKM 2.9), brain (RPKM 2.7) and 22 other tissues.

Summary

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]

HEY2 Products (1)

mRNA	Protein	Name
NM_012259.3	NP_036391.1	hairy/enhancer-of-split related with YRPW motif protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15485867	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	21290414	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	10692439	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	12535671	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11486045	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11486045	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	12535671	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	10692439	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11486045	GOA
involved in negative regulation of transcription initiation by RNA polymerase II	IDA IDA: Inferred from direct assay	10692439	GOA
involved in negative regulation of transcription regulatory region DNA binding	IDA IDA: Inferred from direct assay	10692439	GOA
involved in vascular associated smooth muscle cell development	IEP IEP: Inferred from expression pattern	15821257	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of transcription repressor complex	IDA IDA: Inferred from direct assay	11486045	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEY2 Protein Structure

HLH

Hairy_orange

0
100
200
300
337 a.a.

Protein Preferred Names	Protein Names
hairy/enhancer-of-split related with YRPW motif protein 2	HES-related repressor protein 1

HEY2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HEY2	Q9UBP5	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP8-1	Homo sapiens	Q8IUC2	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP11-1	Homo sapiens	Q8IUC1	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP4-4	Homo sapiens	Q9BYR3	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP4-4	Homo sapiens	Q9BYR3	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP1-1	Homo sapiens	Q07627	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP1-1	Homo sapiens	Q07627	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP6-2	Homo sapiens	Q3LI66	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP6-1	Homo sapiens	Q3LI64	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP6-1	Homo sapiens	Q3LI64	Y2H Array	32296183
Intra	HEY2	Q9UBP5	SIRT1	Homo sapiens	Q96EB6	Anti Tag CoIP	12535671
Intra	HEY2	Q9UBP5	SIRT1	Homo sapiens	Q96EB6	Pull Down	12535671
Intra	HEY2	Q9UBP5	PDLIM7	Homo sapiens	Q9NR12	Y2H Array	32296183
Intra	HEY2	Q9UBP5	PDLIM7	Homo sapiens	Q9NR12	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	HEY2	Q9UBP5	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	TRAF1	Homo sapiens	Q13077	Validated Y2H	25416956
Intra	HEY2	Q9UBP5	TRAF4	Homo sapiens	Q9BUZ4	Y2H Array	32296183
Intra	HEY2	Q9UBP5	TRAF4	Homo sapiens	Q9BUZ4	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP5-9	Homo sapiens	P26371	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	KRTAP5-9	Homo sapiens	P26371	Y2H Array	32296183
Intra	HEY2	Q9UBP5	HTT	Homo sapiens	P42858	Y2H Prey Pooling	23275563
Intra	HEY2	Q9UBP5	HTT	Homo sapiens	P42858	Lumier	23275563
Intra	HEY2	Q9UBP5	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	HEY2	Q9UBP5	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	RBPMS	Homo sapiens	Q93062	Validated Y2H	25416956
Intra	HEY2	Q9UBP5	HOXA1	Homo sapiens	P49639	Y2H Array	32296183
Intra	HEY2	Q9UBP5	HOXA1	Homo sapiens	P49639	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	FHL5	Homo sapiens	Q5TD97	Y2H Prey Pooling	32296183
Intra	HEY2	Q9UBP5	FHL5	Homo sapiens	Q5TD97	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP3-1	Homo sapiens	Q9BYR8	Y2H Array	32296183
Intra	HEY2	Q9UBP5	KRTAP3-1	Homo sapiens	Q9BYR8	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Tricuspid Atresia	Congenital Agenesis Of The Tricuspid Valve
Proctitis	Ulcerative Proctitis Chronic Ulcerative Proctitis Idiopathic Proctitis Nonspecific Ulcerative Proctitis Ulcerative Colitis Confined To Rectum Ip - [Idiopathic Proctitis] Chronic Ulcerative Proctitis Nos
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Tricuspid Valve Stenosis	Tricuspid Stenosis Tricuspid Stricture Tricuspid Valve Stricture Tricuspid Insufficiency With Obstruction Tricuspid Insufficiency With Stenosis
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Lateral Meningocele Syndrome	Lehman Syndrome Lms LMNS Meningocele, Lateral Syndrome
Hajdu-Cheney Syndrome	Acroosteolysis With Osteoporosis And Changes In Skull And Mandible Cheney Syndrome Arthrodentoosteodysplasia HJCYS Serpentine Fibula-Polycystic Kidney Syndrome Sfpks Acroosteolysis Dominant Type Serpentine Fibula-Polycystic Kidneys Syndrome Arthro-Dento-Osteo Dysplasia Cranioskeletal Dysplasia With Acro-Osteolysis Familial Osteodysplasia Hereditary Osteodysplasia With Acro-Osteolysis Hcs Serpentine Fibula Syndrome Acro-Osteolysis Serpentine Fibula Polycystic Kidney Syndrome
Conjunctival Deposit
Fanconi Renotubular Syndrome 1	Renal Fanconi Syndrome Adult Fanconi Syndrome FRTS1 Fanconi Renotubular Syndrome Frts Rfs Fanconi Syndrome Without Cystinosis Luder-Sheldon Syndrome
Alagille Syndrome 1	Alagille Syndrome Arteriohepatic Dysplasia Alagille-Watson Syndrome Cholestasis With Peripheral Pulmonary Stenosis Hepatic Ductular Hypoplasia Alagille Syndrome Due To A Jag1 Point Mutation ALGS1 Algs Aws Syndromic Bile Duct Paucity Cardiovertebral Syndrome Hepatofacioneurocardiovertebral Syndrome Paucity Of Interlobular Bile Ducts Watson-Miller Syndrome Alagille Syndrome Due To 20p12 Microdeletion Ahd Hepatic Ductular Hypoplasia, Syndromatic Watson Alagille Syndrome Alagille'S Syndrome Alagille Syndrome Due To Del(20)(P12) Alagille Syndrome Due To Monosomy 20p12 Alagille-Watson Syndrome Due To Monosomy 20p12 Arteriohepatic Dysplasia Due To Monosomy 20p12 Syndromic Bile Duct Paucity Due To Monosomy 20p12 Alagille-Watson Syndrome Due To A Jag1 Point Mutation Arteriohepatic Dysplasia Due To A Jag1 Point Mutation Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation Alagille Syndrome, Type 1
Atrioventricular Septal Defect	AVSD Atrioventricular Canal Defect Avcd Endocardial Cushion Defect Ecd Avc Defect Atrioventricular Septal Defect, Susceptibility To, 1 Atrioventricular Septal Defect 1 Endocardial Cushion Defects Septal Defect, Atrioventricular Atrioventricular Defect With Atrial Shunting Only Incomplete Atrioventricular Septal Defect With Isolated Atrial Component Incomplete Atrioventricular Canal Defect With Isolated Atrial Component Primum Atrial Septal Defect Partial Atrioventricular Canal Defect With Isolated Atrial Component Partial Atrioventricular Septal Defect, Ostium Primum Type Ostium Primum Atrial Septal Defect Partial Atrioventricular Canal Defect Partial Atrioventricular Septal Defect Atrial Septum Primum Defect Atrioventricular Canal Defect With Isolated Ventricular Component Atrioventricular Canal Defect With Isolated Ventricular Communication Atrioventricular Septal Defect With Isolated Ventricular Component Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect Intermediate Atrioventricular Canal Defect Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices Intermediate Atrioventricular Septal Defect Transitional Atrioventricular Canal Defect Transitional Atrioventricular Septal Defect Complete Atrioventricular Canal With Atrial And Ventricular Components Complete Atrioventricular Canal Defect Complete Atrioventricular Septal Defect
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Arteriovenous Malformation	Arteriovenous Malformations Arteriovenous Hemangioma Cirsoid Aneurysm Racemose Aneurysm Racemose Angioma Racemose Hemangioma Congenital Arteriovenous Malformation
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Hypoplastic Left Heart Syndrome	Hlhs Heart, Hypoplastic Left, Syndrome Hypoplasia Of The Left Heart Left Heart Hypoplasia Syndrome Hlhs - [Hypoplastic Left Heart Syndrome] Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06147	HEY2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	HEY2	VGNC	VGNC:73369
Felis catus	HEY2	VGNC	VGNC:67560
Bos taurus	HEY2	VGNC	VGNC:29829
Rattus norvegicus	HEY2	RGD	RGD:621405
Mus musculus	HEY2	MGD	MGI:1341884
Canis familiaris	HEY2	VGNC	VGNC:54844
Others	HEY2	NCBI