HES7 - hes family bHLH transcription factor 7 Gene

Homo sapiens

Also known as SCDO4; hHes7; bHLHb37

Gene ID: 84667 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	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

HES7 Protein Structure

HLH

0
100
200
225 a.a.

Protein Preferred Names

Protein Names

transcription factor HES-7

bHLH factor Hes7

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06140	HES7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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