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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
  • 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 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

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

Proteomics data for HES7 Gene at MOPED

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).
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

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HES7 Gene COMPARTMENTS Subcellular localization image for HES7 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for HES7 Gene

Pathways & Interactions for HES7 Gene

SuperPathways 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: ENSP00000446205 for HES7 Gene via 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:0007498 mesoderm development NAS 11260262
GO:0036342 post-anal tail morphogenesis 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

Drugs & Compounds for HES7 Gene

No Compound Related Data Available

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

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

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 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).

SOURCE GeneReport for Unigene cluster for HES7 Gene Hs.434828

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

Primer Products

In Situ Assay Products

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.

Orthologs for HES7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HES7 35
  • 91.3 (n)
  • 93.24 (a)
HES7 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HES7 35
  • 90.98 (n)
  • 89.81 (a)
HES7 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hes7 35
  • 92 (n)
  • 92 (a)
Hes7 16
Hes7 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hes7 35
  • 90.37 (n)
  • 91.56 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia HES7 36
  • 54 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HES7 36
  • 99 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HES7 36
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135364 35
  • 61.16 (n)
  • 55.96 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398356 35
zebrafish
(Danio rerio)
Actinopterygii her5 36
  • 32 (a)
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)

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
VAR_064921 Spondylocostal dysostosis 4, autosomal recessive (SCDO4)
VAR_064922 Spondylocostal dysostosis 4, autosomal recessive (SCDO4)
VAR_064923 Spondylocostal dysostosis 4, autosomal recessive (SCDO4)

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

Variant ID Type Subtype PubMed ID
nsv833352 CNV Loss 17160897
nsv907657 CNV Loss 21882294
nsv457661 CNV Loss 19166990

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

HapMap Linkage Disequilibrium report
HES7
Human Gene Mutation Database (HGMD)
HES7

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

Disorders for HES7 Gene

MalaCards: The human disease database

(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
  • scdo4
spondylocostal dysostosis 5
  • jarcho-levin syndrome
spondylocostal dysostosis, autosomal recessive
  • jarcho-levin syndrome
hes7-related spondylocostal dysostosis, autosomal recessive
  • spondylocostal dysostosis 4, autosomal recessive
spondylocostal dysostosis
  • 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 67
  2. 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
  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
  4. 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
  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

Products for HES7 Gene

Sources for HES7 Gene

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