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Aliases for HES7 Gene

Aliases for HES7 Gene

  • Hes Family BHLH Transcription Factor 7 2 3 5
  • BHLH Factor Hes7 2 3 4
  • Class B Basic Helix-Loop-Helix Protein 37 3 4
  • Hairy And Enhancer Of Split 7 3 4
  • BHLHb37 3 4
  • HHes7 3 4
  • Hairy And Enhancer Of Split 7 (Drosophila) 2
  • Transcription Factor HES-7 3
  • SCDO4 3

External Ids for HES7 Gene

Previous GeneCards Identifiers for HES7 Gene

  • GC17P008428
  • GC17M009113
  • GC17M007966
  • GC17M008226
  • GC17M008227
  • GC17M007965
  • GC17M008030
  • GC17M007919
  • GC17M008046
  • GC17M008051
  • GC17M008056
  • GC17M008060

Summaries for HES7 Gene

Entrez Gene Summary 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 Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F008117 1.2 ENCODE 21.3 +4.5 4472 7.7 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF143 LOC105371523 NEURL4 HES7 CTC1 MIR6883 ENSG00000271029 DVL2 SPEM1 PFAS NLGN2
GH17F008126 1.1 ENCODE 20.2 -0.9 -851 2.1 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF143 FOS DEK SP3 LOC105371523 HES7 NEURL4 MIR6883 DVL2 PFAS SNORD10 CTC1 SNORD118 TMEM107
GH17F007833 1.7 FANTOM5 ENCODE 10.4 +286.0 286010 12.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 DVL2 PFAS CTC1 SNORD10 LOC105371523 SNORA48 MIR6883 KCTD11 KDM6B CNTROB
GH17F008149 1.6 FANTOM5 ENCODE 10.7 -31.6 -31580 16.0 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 DVL2 SENP3 PFAS CTC1 SNORD10 MIR6883 LOC105371523 VAMP2 LOC100996842 NEURL4
GH17F007474 1.6 FANTOM5 ENCODE 10.4 +645.2 645150 12.5 CREB3L1 ZFP64 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 DVL2 SNORD10 SNORA48 CHRNB1 PFAS LOC105371523 KCTD11 CTC1 CNTROB MIR6883
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HES7 on UCSC Golden Path with GeneCards custom track

Promoters for HES7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001804854 -561 1801 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 FOS DEK SP3 REST
ENSR00001804853 1239 201 SUZ12 MAX GATA3 GLIS2 PATZ1 ZBTB20 SP3 RNF2 SP2 CBX2
ENSR00001804855 -1761 201 KLF1 SREBF2 CHD4 HIC1 GLIS2 ZNF366 PATZ1 KLF8 ZBTB20 NRF1

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:
HES7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HES7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for HES7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HES7 Gene

Post-translational modifications for HES7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HES7 Gene

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

Suggested Antigen Peptide Sequences for HES7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYE0

UniProtKB/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.
genes like me logo Genes that share domains with HES7: view

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).

Gene Ontology (GO) - Molecular Function for HES7 Gene

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 --
genes like me logo Genes that share ontologies with HES7: view
genes like me logo Genes that share phenotypes with HES7: view

Human Phenotype Ontology for HES7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HES7 Gene

MGI Knock Outs for HES7:

Animal Model Products

Inhibitory RNA Products

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HES7 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for HES7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,NAS 11260262
genes like me logo Genes that share ontologies with HES7: view

Pathways & Interactions for HES7 Gene

No Data Available

Interacting Proteins for HES7 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000446205%0d%0a9606.ENSP00000345206%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q9BYE0-HES7_HUMAN ENSP00000446205 for HES7 Gene via IID STRING

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with HES7: view

No data available for Pathways by source and 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

Hairy and enhancer of split 7 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HES7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2:

Relevant External Links for HES7 Gene

GeneLoc Exon Structure for
HES7
ECgene alternative splicing isoforms for
HES7

Expression for HES7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HES7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

NURSA nuclear receptor signaling pathways regulating expression of HES7 Gene:

HES7

SOURCE GeneReport for Unigene cluster for HES7 Gene:

Hs.434828
genes like me logo Genes that share expression patterns with HES7: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HES7 Gene

Orthologs for HES7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HES7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HES7 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hes7 34 16 35
  • 92 (n)
cow
(Bos Taurus)
Mammalia HES7 34 35
  • 91.3 (n)
dog
(Canis familiaris)
Mammalia HES7 34 35
  • 90.98 (n)
rat
(Rattus norvegicus)
Mammalia Hes7 34
  • 90.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HES7 35
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HES7 35
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135364 34
  • 61.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398356 34
zebrafish
(Danio rerio)
Actinopterygii her5 35
  • 32 (a)
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)

Evolution for HES7 Gene

ENSEMBL:
Gene Tree for HES7 (if available)
TreeFam:
Gene Tree for HES7 (if available)

Paralogs for HES7 Gene

No data available for Paralogs for HES7 Gene

Variants for HES7 Gene

Sequence variations from dbSNP and Humsavar 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 Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686], Pathogenic 8,121,693(-) CCGGG(G/T)ATTCT reference, missense
rs387906979 Spondylocostal dysostosis 4, autosomal recessive (SCDO4) [MIM:613686], Pathogenic 8,122,397(-) CGGAG(A/G)TATTG reference, missense
rs398122970 Pathogenic 8,121,854(-) GCCCC(-/AAACCGCCCC)GGCCC reference, frameshift-variant
rs1348325 Benign 8,122,394(-) AGATA(C/T)TGGAG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for HES7 Gene

Variant ID Type Subtype PubMed ID
nsv457661 CNV loss 19166990
nsv574335 CNV loss 21841781
nsv833352 CNV loss 17160897

Variation tolerance for HES7 Gene

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HES7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HES7 Gene

Disorders for HES7 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HES7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondylocostal dysostosis 4, autosomal recessive
  • scdo4
hes7-related spondylocostal dysostosis, autosomal recessive
  • spondylocostal dysostosis 4, autosomal recessive
spondylocostal dysostosis 4
  • scdo4
spondylocostal dysostosis 5
  • costovertebral segmentation anomalies
spondylocostal dysostosis, autosomal recessive
  • jarcho-levin syndrome
- elite association - COSMIC cancer census association via MalaCards
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

Genetic Association Database (GAD)
HES7
Human Genome Epidemiology (HuGE) Navigator
HES7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HES7
genes like me logo Genes that share disorders with HES7: view

No data available for Genatlas for HES7 Gene

Publications for HES7 Gene

  1. 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
  2. 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
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  4. 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
  5. 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

Products for HES7 Gene

Sources for HES7 Gene

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