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. 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 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
Enhancers for HES7 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around HES7 on UCSC Golden Path with GeneCards custom track
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
Genes around HES7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p13.1 by Ensembl
- 17p13.1 by Entrez Gene
- 17p13.1 by HGNC
HES7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
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
- Novus Biologicals Antibodies for HES7
- Invitrogen Antibodies for HES7
- antibodies-online Antibodies for HES7: See all 44
- GeneTex Ifnb1 antibody for HES7
-
Santa Cruz Biotechnology (SCBT) Antibodies for HES7
Protein Products
-
OriGene Purified Proteins for HES7
- Search Origene for MassSpec and Protein Over-expression Lysates for HES7
- Origene Custom Protein Services for HES7
- 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.
- Contains 1 bHLH (basic helix-loop-helix) domain.
- Contains 1 Orange domain.
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).
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
- Search ViGene Biosciences for HES7
CRISPR Products
-
OriGene CRISPR knockouts for HES7
-
Santa Cruz Biotechnology (SCBT) CRISPR for HES7
- GenScript: Design CRISPR guide RNA sequences for HES7
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
Clone Products
- OriGene clones in human for HES7
- OriGene ORF clones in human,mouse,rat for HES7
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for HES7 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HES7 gene
- Search ViGene Biosciences for HES7
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for HES7 Gene
Localization for HES7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HES7 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
No data available for Gene Ontology (GO) - Cellular Components for HES7 Gene
Pathways & Interactions for HES7 Gene
More details on SuperPathways for HES7
No Data Available
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:0007498 | mesoderm development | NAS | 11260262 |
| GO:0036342 | post-anal tail morphogenesis | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HES7 Gene
Transcripts for HES7 Gene
mRNA/cDNA for HES7 Gene
- (7) 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
Clone Products
- OriGene clones in human for HES7
- OriGene ORF clones in human,mouse,rat for HES7
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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
This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.7) and Brain - Cerebellum (x6.6).
SOURCE GeneReport for Unigene cluster for HES7 Gene Hs.434828
Primer Products
-
OriGene qPCR primer pairs for HES7
No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HES7 Gene
Orthologs for HES7 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | HES7 35 |
|
||
| HES7 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | HES7 35 |
|
||
| HES7 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Hes7 35 |
|
||
| Hes7 16 |
|
||||
| Hes7 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Hes7 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HES7 36 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | HES7 36 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HES7 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100135364 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398356 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | her5 36 |
|
OneToOne |
- Species with no ortholog for HES7:
-
- 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 |
|---|---|---|---|---|---|
| VAR_064921 | Spondylocostal dysostosis 4, autosomal recessive (SCDO4) | ||||
| VAR_064922 | Spondylocostal dysostosis 4, autosomal recessive (SCDO4) | ||||
| VAR_064923 | Spondylocostal dysostosis 4, autosomal recessive (SCDO4) |
Gene Damage Index Score:
0.51;
11.15% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HES7 Gene
- Human Gene Mutation Database (HGMD)
- HES7
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES7 Gene
Disorders for HES7 Gene
(11) 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 |
|
|
| spondylocostal dysostosis |
|
|
Search HES7 in MalaCards
View complete list of genes associated with diseases
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 67
- Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation. (PMID: 25928698) Netravathi M. … Faruq M. (BMC Med. Genet. 2015) 3
- Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (PMID: 23897666) Sparrow D.B. … Dunwoodie S.L. (Am. J. Med. Genet. A 2013) 3
- Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis. (PMID: 22744456) Qiu X.S. … Qiu Y. (Stud Health Technol Inform 2012) 3
- 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
Products for HES7 Gene
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- OriGene Purified Proteins for HES7
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- Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for HES7
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- OriGene qPCR primer pairs for HES7
- OriGene CRISPR knockouts for HES7
- OriGene clones in human for HES7
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Design CRISPR guide RNA sequences for HES7
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- Novus Biologicals Antibodies for HES7
- Novus Biologicals proteins and lysates for HES7
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for HES7
- antibodies-online Antibodies for HES7: See all 44
- Search antibodies-online for kits
- antibodies-online Proteins for HES7: See all 4
- Search antibodies-online for peptides
- GeneTex Ifnb1 antibody for HES7
- Search GeneTex for Proteins for HES7
- ViGene Biosciences adenoviral particle packaged cDNA for HES7 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HES7 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HES7 gene
- Search ViGene Biosciences for HES7
- Search ViGene Biosciences for HES7
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- Search ViGene Biosciences for HES7
- Santa Cruz Biotechnology (SCBT) Antibodies for HES7
- Search Santa Cruz Biotechnology (SCBT) for HES7 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HES7
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
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) RNAdb
- (30) ASD
- (31) ECgene
- (32) GeneAnnot
- (33) SAGE
- (34) SOURCE
- (35) HomoloGene
- (36) PanEnsembl
- (37) euGenes
- (38) SGD
- (39) FlyBase
- (40) WormBase
- (41) Pseudogene
- (42) DGV
- (43) dbSNP
- (44) HapMap
- (45) GenAtlas
- (46) GeneTests
- (47) HGMD
- (48) GAD
- (49) LSDB
- (50) BGMUT
- (51) HuGE
- (52) eBioscience
- (53) Atlas
- (54) Cell Signaling Technology
- (55) GenBank
- (56) H-invDB
- (57) HORDE
- (58) HUGE
- (59) IMGT
- (60) Leiden
- (61) MILLIPORE
- (62) miRBase
- (63) DME
- (64) Nature
- (65) NCBI
- (66) OriGene
- (67) PubMed
- (68) R&D Systems
- (69) Salk
- (70) TGDB
- (71) Tufts
- (72) YEDA
- (73) CROW21
- (74) Tocris
- (75) Abcam
- (76) Novus
- (77) ProSpec
- (78) Sino Biological
- (79) GenScript
- (80) Qiagen
- (81) Cloud-Clone Corp.
- (82) Enzo Life Sciences
- (83) OCA
- (84) Proteopedia
- (85) MOPED
- (86) SPIRE
- (87) neXtProt
- (88) Reactome
- (89) GeneGo (Thomson Reuters)
- (90) fRNAdb
- (91) DISEASES
- (92) SIMAP
- (93) GenomeRNAi
- (94) LifeMap
- (95) miRTarBase
- (96) MalaCards
- (97) Invitrogen
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- (99) Vector BioLabs
- (100) ESI-BIO
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- (107) COMPARTMENTS
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- (110) ApexBio
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- (113) antibodies-online
- (114) CYP
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- (148) FANTOM5
- (149) ENCODE
- (150) ProSci
- (151) Horizon