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

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

中文名称:具有 YRPW 基序 2 的 hes 相关家族 bHLH 转录因子

种属: Homo sapiens

同用名: GRL; CHF1; HRT2; HERP1; HESR2; bHLHb32; GRIDLOCK

基因 ID: 23493 | 基因类型: protein coding

关于 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.

功能概要

该基因编码基本螺旋-环-螺旋 (bHLH) 型转录因子的分裂相关 (HESR) 家族的一个成员。编码的蛋白质形成同二聚体或异二聚体,定位于细胞核并与组蛋白脱乙酰酶复合物相互作用以抑制转录。该基因的表达由 Notch 信号转导途径诱导。小鼠中两个相似且冗余的基因是胚胎心血管发育所必需的,并且还涉及神经发生和体细胞发生。已发现可变剪接的转录本变体,但尚未确定其生物学有效性。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_012259.3 NP_036391.1 hairy/enhancer-of-split related with YRPW motif protein 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor activity IDA
IDA: 通过直接分析推断
15485867 GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
IDA: 通过直接分析推断
21290414 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
10692439 GOA
enables histone deacetylase binding IPI
IPI: 通过物理相互作用推断
12535671 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11486045 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
11486045 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription repressor complex IDA
IDA: 通过直接分析推断
11486045 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

HEY2 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (53 - 104)

Hairy_orange

Hairy_orange: Hairy Orange (123 - 163)

  • 0
  • 100
  • 200
  • 300
  • 337 a.a.
蛋白主名 其他名称

hairy/enhancer-of-split related with YRPW motif protein 2

HES-related repressor protein 1

HEY2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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