HES7 - hes family bHLH transcription factor 7 Gene

Also Known as SCDO4; hHes7; bHLHb37

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84667

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	Verweise	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

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-125130	Hesperetin 7-O-glucoside	Inhibitor	99.38%	Unkown
HY-RS06140	HES7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22199	Hes7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28721	Hes7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	HES7	NCBI