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  2. HES7 - hes family bHLH transcription factor 7 Gene

HES7 - hes family bHLH transcription factor 7 Gene

中文名称:hes 家族 bHLH 转录因子 7

种属: Homo sapiens

同用名: SCDO4; hHes7; bHLHb37

基因 ID: 84667 | 基因类型: protein coding

关于 HES7

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,120,592-8,126,634 (from NCBI)

This gene has 3 transcripts (splice variants), 193 orthologues, 12 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码 bHLH 转录因子分裂家族的毛发和增强子成员。该基因的小鼠直系同源物受 Notch 信号调节。该蛋白质起转录抑制因子的作用,并与轴向骨骼的正确模式化有关。该基因的突变已被证明会导致脊柱肋骨发育不良。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

HES7 基因产物(2)

mRNA Protein Name
NM_001165967.2 NP_001159439.1 transcription factor HES-7 isoform 1
NM_032580.4 NP_115969.2 transcription factor HES-7 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

HES7 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (17 - 67)

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

transcription factor HES-7

bHLH factor Hes7

关联疾病

疾病名称 别名
Spondylocostal Dysostosis 4, Autosomal Recessive

SCDO4

Spondylocostal Dysostosis 4

Autosomal Recessive Spondylocostal Dysostosis 4

Doid:0112364

Dysostosis, Spondylocostal, Autosomal Recessive, Type 4

Spondylocostal Dysostosis, Autosomal Recessive

Autosomal Recessive Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylocostal Dysplasia

Spondylocostal Dysostosis, Autosomal Recessive 2

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

Dysostosis

Dysostoses

Dextrocardia

Heart Predominantly In Right Hemithorax

Heart In Right Chest

Right-Sided Heart

Congenital Dextrocardia Of Heart

Transposition Of Heart

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

Spondylocostal Dysostosis 1, Autosomal Recessive

Jarcho-Levin Syndrome

SCDO1

Vertebral Anomalies

Spondylothoracic Dysplasia

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylocostal Dysostosis 1

Autosomal Recessive Spondylocostal Dysostosis 1

Spondylocostal Dysostosis, Autosomal Recessive, 1

Doid:0112365

Dysostosis, Spondylocostal, Autosomal Recessive, Type 1

Spastic Paraplegia 76, Autosomal Recessive

SPG76

Autosomal Recessive Spastic Paraplegia Type 76

Hereditary Spastic Paraplegia 76

Autosomal Recessive Spastic Paraplegia 76

Paraplegia, Spastic, Autosomal Recessive, Type 76

Spondylocostal Dysostosis 5

Spondylothoracic Dysostosis

SCDO5

Jarcho-Levin Syndrome

Scoliosis, Congenital, With Or Without Rib Anomalies

Tacs

Spondylocostal Dysplasia

Costovertebral Segmentation Anomalies

Spondylocostal Dysostosis 1

Spondylocostal Dysostosis

Spondylothoracic Dysplasia

Scdo1

Spondylocostal Dysostosis 1 Autosomal Recessive

Costovertebral Dysplasia

Scdo

Std

Autosomal Dominant Spondylocostal Dysostosis

Autosomal Dominant Spondylocostal Dysplasia

Doid:0112363

Spondylocostal Dysostosis 4, Autosomal Dominant

Klippel-Feil Syndrome

Cervical Vertebral Fusion

Congenital Dystrophia Brevicollis

Cervical Fusion Syndrome

Klippel-Feil Deformity

Autosomal Dominant Klippel-Feil Syndrome

Congenital Synostosis Of Cervical Vertebrae

Klippel-Feil And Turner Syndrome

Klippel-Feil Deformity, Deafness And Facial Asymmetry

Klippel Feil Syndrome

Cervical Vertebral Fusion Syndrome

Dystrophia Brevicollis Congenita

Fusion Of Cervical Vertebrae

Kfs

Klippel-Feil Sequence

Vertebral Cervical Fusion Syndrome

Klippel-Feil Syndrome, Autosomal Dominant

Klippel-Feil Malformation

Isolated Klippel-Feil Syndrome

Meningocele

Isolated Spina Bifida

Spina Bifida

Cleft Spine

Open Spine

Rachischisis

Spinal Dysraphism

Spinal Meningocele

Congenital Meningocele

Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv

Scoliosis
Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome

Sacral Defect With Anterior Meningocele

Caudal Regression Syndrome

Caudal Regression Sequence

Sacral Agenesis

Caudal Dysgenesis Syndrome

SDAM

Caudal Dysplasia Sequence

Caudal Dysplasia

Sacral Agenesis Syndrome

Sacral Regression Syndrome

Sacral Defect And Anterior Sacral Meningocele

Rudd Klimek Syndrome

Sirenomelia

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

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

Spina Bifida Occulta
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

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
Bos taurus HES7 VGNC VGNC:29824
Mus musculus HES7 MGD MGI:2135679
Felis catus HES7 VGNC VGNC:62802
Rattus norvegicus HES7 RGD RGD:1305914
Canis familiaris HES7 VGNC VGNC:41667
Macaca mulatta HES7 VGNC VGNC:84888