Aliases for HES7 Gene
Aliases for HES7 Gene
External Ids for HES7 Gene
- HGNC: 15977
- Entrez Gene: 84667
- Ensembl: ENSG00000179111
- OMIM: 608059
- UniProtKB: Q9BYE0
Previous GeneCards Identifiers for HES7 Gene
- GC17P008428
- GC17M009113
- GC17M007966
- GC17M008226
- GC17M008227
- GC17M007965
- GC17M008030
- GC17M007919
- GC17M008046
- GC17M008051
- GC17M008056
- GC17M008060
Summaries for HES7 Gene
-
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]
GeneCards Summary for HES7 Gene
HES7 (Hes Family BHLH Transcription Factor 7) is a Protein Coding gene. Diseases associated with HES7 include Spondylocostal Dysostosis 4, Autosomal Recessive and Spondylocostal Dysostosis 5. Among its related pathways are Mesodermal Commitment Pathway and Gene regulatory network modelling somitogenesis. GO annotations related to this gene include transcription factor binding and protein dimerization activity.
UniProtKB/Swiss-Prot for HES7 Gene
-
Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HES7 Gene
Genomics for HES7 Gene
Regulatory Elements for HES7 Gene
Regulatory Element Products
Genomic Location for HES7 Gene
- Chromosome:
- 17
- Start:
- 8,120,590 bp from pter
- End:
- 8,125,739 bp from pter
- Size:
- 5,150 bases
- Orientation:
- Minus strand
Genomic View for HES7 Gene
- Cytogenetic band:
-
- 17p13.1 by Ensembl
- 17p13.1 by Entrez Gene
- 17p13.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HES7 Gene
Proteins for HES7 Gene
-
Protein details for HES7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BYE0-HES7_HUMAN
- Recommended name:
- Transcription factor HES-7
- Protein Accession:
- Q9BYE0
- F8VPC9
Protein attributes for HES7 Gene
- Size:
- 225 amino acids
- Molecular mass:
- 24899 Da
- Quaternary structure:
-
- Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family.
Post-translational modifications for HES7 Gene
Other Protein References for HES7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HES7
- Novus Biologicals Antibodies for HES7
- Invitrogen Antibodies for HES7
- antibodies-online Antibodies for HES7: See all 44
- GeneTex Ifnb1 antibody for HES7
Protein Products
-
OriGene Purified Proteins for HES7
- Search Origene for MassSpec and Protein Over-expression Lysates for HES7
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- ProSpec Recombinant Proteins for HES7
- antibodies-online Proteins for HES7: See all 4
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HES7
Assay Products
No data available for DME Specific Peptides for HES7 Gene
Domains & Families for HES7 Gene
Gene Families for HES7 Gene
Protein Domains for HES7 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HES7 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BYE0UniProtKB/Swiss-Prot:
HES7_HUMAN :- Has a particular type of basic domain which includes a helix-interrupting proline.
- Domain:
-
- Has a particular type of basic domain which includes a helix-interrupting proline.
- The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins.
Function for HES7 Gene
Molecular function for HES7 Gene
- UniProtKB/Swiss-Prot Function:
- Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock, which is essential for coordinated somite segmentation (By similarity).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA,NAS | 11260262 |
| GO:0008134 | transcription factor binding | NAS | 17611704 |
| GO:0046983 | protein dimerization activity | IEA | -- |
Phenotypes for HES7 Gene
- MGI mutant phenotypes for HES7:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for HES7:
Animal Models for HES7 Gene
- MGI Knock Outs for HES7:
-
- Hes7 tm1Kag
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HES7 gene
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CRISPR Products
-
OriGene CRISPR knockouts for HES7
-
Santa Cruz Biotechnology (SCBT) CRISPR for HES7
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miRNA for HES7 Gene
- miRTarBase miRNAs that target HES7
-
- hsa-mir-5089-5p (MIRT482738)
- hsa-mir-6720-5p (MIRT482739)
- hsa-mir-6512-3p (MIRT482740)
- hsa-mir-4769-5p (MIRT482741)
- hsa-mir-4654 (MIRT482742)
- hsa-mir-885-3p (MIRT482743)
- hsa-mir-505-5p (MIRT482744)
- hsa-mir-873-3p (MIRT482745)
- hsa-mir-6868-5p (MIRT482746)
- hsa-mir-6786-5p (MIRT482747)
- hsa-mir-1281 (MIRT482748)
- hsa-mir-8073 (MIRT482749)
- hsa-mir-221-5p (MIRT482750)
- hsa-mir-5009-3p (MIRT482751)
- hsa-mir-4671-5p (MIRT482752)
- hsa-mir-6849-3p (MIRT482753)
- hsa-mir-4463 (MIRT482754)
- hsa-mir-3684 (MIRT508347)
- hsa-mir-766-3p (MIRT508348)
- hsa-mir-4738-5p (MIRT508349)
- hsa-mir-5586-5p (MIRT508350)
- hsa-mir-508-5p (MIRT508351)
- hsa-mir-605-5p (MIRT508352)
- hsa-mir-548x-3p (MIRT508353)
- hsa-mir-548j-3p (MIRT508354)
- hsa-mir-548aq-3p (MIRT508355)
- hsa-mir-548am-3p (MIRT508356)
- hsa-mir-548aj-3p (MIRT508357)
- hsa-mir-548ah-3p (MIRT508358)
- hsa-mir-548ae-3p (MIRT508359)
- hsa-mir-4693-5p (MIRT541221)
- hsa-mir-5582-3p (MIRT541222)
miRNA Products
- Search ViGene Biosciences for HES7
Inhibitory RNA Products
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Cell Line Products
-
Horizon Cell Lines for HES7
-
ViGene Biosciences adenoviral particle packaged cDNA for HES7 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HES7 gene
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HES7 Gene
Localization for HES7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HES7 Gene
- Nucleus.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,NAS | 11260262 |
Pathways & Interactions for HES7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gene regulatory network modelling somitogenesis | ||
| 2 | Mesodermal Commitment Pathway | ||
Pathways by source for HES7 Gene
2 BioSystems pathways for HES7 Gene
Interacting Proteins for HES7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IEA | -- |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001756 | somitogenesis | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
No data available for SIGNOR curated interactions for HES7 Gene
Transcripts for HES7 Gene
mRNA/cDNA for HES7 Gene
- (4) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (13) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HES7 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HES7
-
Santa Cruz Biotechnology (SCBT) CRISPR for HES7
- GenScript: Design CRISPR guide RNA sequences for HES7
miRNA Products
- Search ViGene Biosciences for HES7
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HES7
- Browse OriGene Inhibitory RNA Products For HES7
- Search ViGene Biosciences for HES7
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||
| SP2: |
Expression for HES7 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Paraxial Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Presegmented Somitic Mesenchyme Cells Presomitic Mesoderm
- Presomitic Mesoderm Cells Presomitic Mesoderm
- Paraxial Mesoderm Cells Paraxial Mesoderm
-
Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm Cells Trunk Mesoderm
- Paraxial Mesoderm Cells Paraxial Mesoderm
-
Somite (Muscoskeletal System)
- Presegmented Somitic Mesenchyme Cells Presomitic Mesoderm
- Presomitic Mesoderm Cells Presomitic Mesoderm
mRNA differential expression in normal tissues according to GTEx for HES7 Gene
NURSA nuclear receptor signaling pathways regulating expression of HES7 Gene:
HES7SOURCE GeneReport for Unigene cluster for HES7 Gene:
Hs.434828Phenotype-based relationships between genes and organs from Gene ORGANizer for HES7 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- respiratory
- skeleton
- brain
- head
- jaw
- mandible
- maxilla
- meninges
- mouth
- neck
- skull
- tooth
- chest wall
- lung
- rib
- rib cage
- sternum
- pelvis
- digit
- finger
- hand
- upper limb
- blood vessel
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for HES7
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for HES7 Gene
Orthologs for HES7 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HES7 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hes7 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HES7 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HES7 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hes7 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HES7 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HES7 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100135364 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398356 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | her5 35 |
|
OneToOne |
- Species where no ortholog for HES7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- oppossum (Monodelphis domestica)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HES7 Gene
No data available for Paralogs for HES7 Gene
Variants for HES7 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs113994160 | Pathogenic, Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] | 8,123,096(-) | GGCGC(C/T)GGGAC | reference, missense | |
| rs387906978 | Pathogenic, Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] | 8,121,693(-) | CCGGG(G/T)ATTCT | reference, missense | |
| rs387906979 | Pathogenic, Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686] | 8,122,397(-) | CGGAG(A/G)TATTG | reference, missense | |
| rs398122970 | Pathogenic | 8,121,854(-) | GCCCC(-/AAACCGCCCC)GGCCC | reference, frameshift-variant | |
| rs200833034 | Uncertain significance | 8,121,844(+) | TCTAC(C/T)GGCTT | reference, synonymous-codon |
Relevant External Links for HES7 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES7 Gene
Disorders for HES7 Gene
(15) MalaCards diseases for HES7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spondylocostal dysostosis 4, autosomal recessive |
|
|
| spondylocostal dysostosis 5 |
|
|
| spondylocostal dysostosis, autosomal recessive |
|
|
| hes7-related spondylocostal dysostosis, autosomal recessive |
|
|
| dextrocardia |
|
|
UniProtKB/Swiss-Prot
HES7_HUMAN- Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686]: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. {ECO:0000269 PubMed:18775957, ECO:0000269 PubMed:20087400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for HES7
No data available for Genatlas for HES7 Gene
Publications for HES7 Gene
- Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm. (PMID: 11260262) Bessho Y. … Kageyama R. (Genes Cells 2001) 2 3 4 64
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
- Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. (PMID: 20087400) Sparrow D.B. … Dunwoodie S.L. (Eur. J. Hum. Genet. 2010) 3 4 64
- Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
- Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
Products for HES7 Gene
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- antibodies-online Antibodies for HES7: See all 44
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- antibodies-online Proteins for HES7: See all 4
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HES7 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
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- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
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- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer



