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Aliases for HES7 Gene

Aliases for HES7 Gene

  • Hes Family BHLH Transcription Factor 7 2 3
  • 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
  • SCDO4 3 6
  • HHes7 3 4
  • Hairy And Enhancer Of Split 7 (Drosophila) 2
  • Transcription Factor HES-7 3

External Ids for HES7 Gene

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 4. 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

Genomic Location for HES7 Gene

Start:
8,120,590 bp from pter
End:
8,124,092 bp from pter
Size:
3,503 bases
Orientation:
Minus strand

Genomic View for HES7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HES7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HES7 Gene

Regulatory Elements 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 for HES7 Gene

Gene Families for HES7 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for HES7 Gene

UniProtKB/Swiss-Prot:

HES7_HUMAN
Domain:
  • Has a particular type of basic domain which includes a helix-interrupting proline:
    • Q9BYE0
  • 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.:
    • Q9BYE0
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • Q9BYE0
  • Contains 1 Orange domain.:
    • Q9BYE0
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 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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for HES7 Gene

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

Pathways 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with HES7: view

No data available for Pathways by source 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

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 (6.7) and Brain - Cerebellum (6.6).

SOURCE GeneReport for Unigene cluster for HES7 Gene Hs.434828

genes like me logo Genes that share expressions with HES7: view

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 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HES7 36
  • 91.3 (n)
  • 93.24 (a)
HES7 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HES7 36
  • 90.98 (n)
  • 89.81 (a)
HES7 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hes7 36
  • 92 (n)
  • 92 (a)
Hes7 16
Hes7 37
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HES7 37
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hes7 36
  • 90.37 (n)
  • 91.56 (a)
lizard
(Anolis carolinensis)
Reptilia HES7 37
  • 31 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398356 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100135364 36
  • 61.16 (n)
  • 55.96 (a)
zebrafish
(Danio rerio)
Actinopterygii her5 37
  • 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 MAF
rs968570 -- 8,122,760(-) GTCCG(C/G)TTCCC intron-variant
rs1348325 -- 8,122,394(-) AGATA(C/T)TGGAG synonymous-codon, reference
rs1372868 -- 8,124,326(-) CCTTA(C/T)GGTCT upstream-variant-2KB
rs1372869 -- 8,124,000(-) TTGGC(C/T)AGGGG intron-variant
rs1442850 -- 8,120,919(+) GTTCG(C/T)CGGGT utr-variant-3-prime

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

Relevant External Links for HES7 Gene

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

Disorders for HES7 Gene

(1) OMIM Diseases for HES7 Gene (608059)

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.

(1) University of Copenhagen DISEASES for HES7 Gene

Relevant External Links for HES7

GeneTests
HES7
GeneReviews
HES7
Genetic Association Database (GAD)
HES7
Human Genome Epidemiology (HuGE) Navigator
HES7
genes like me logo Genes that share disorders with HES7: view

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
  2. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (PMID: 18775957) Sparrow D.B. … Dunwoodie S.L. (Hum. Mol. Genet. 2008) 3 4
  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 4
  4. 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 49
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 49

Products for HES7 Gene

Sources for HES7 Gene

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