Human Gene HES7 (ENST00000317814.8) from GENCODE V44
  Description: Homo sapiens hes family bHLH transcription factor 7 (HES7), transcript variant 2, mRNA. (from RefSeq NM_032580)
RefSeq Summary (NM_032580): 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].
Gencode Transcript: ENST00000317814.8
Gencode Gene: ENSG00000179111.9
Transcript (Including UTRs)
   Position: hg38 chr17:8,121,571-8,124,084 Size: 2,514 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg38 chr17:8,121,571-8,124,084 Size: 2,514 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:8,121,571-8,124,084)mRNA (may differ from genome)Protein (225 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
neXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Transcription factor HES-7; Short=hHes7; AltName: Full=Class B basic helix-loop-helix protein 37; Short=bHLHb37; AltName: Full=Hairy and enhancer of split 7; AltName: Full=bHLH factor Hes7;
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).
SUBUNIT: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family (By similarity).
DOMAIN: Has a particular type of basic domain which includes a helix-interrupting proline.
DOMAIN: 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 (By similarity).
DISEASE: Defects in HES7 are the cause of spondylocostal dysostosis type 4 (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.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.
SIMILARITY: Contains 1 Orange domain.

-  Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

-  MalaCards Disease Associations
  MalaCards Gene Search: HES7
Diseases sorted by gene-association score: spondylocostal dysostosis 4, autosomal recessive* (1230), hes7-related spondylocostal dysostosis, autosomal recessive* (500), spondylocostal dysostosis 4* (429), spondylocostal dysostosis 5* (283), spondylocostal dysostosis, autosomal recessive* (175), dysostosis (31), dextrocardia (17), spondylocostal dysostosis 3, autosomal recessive (9), spina bifida occulta (8), hajdu-cheney syndrome (7), dextrocardia with situs inversus (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.98 RPKM in Brain - Cerebellum
Total median expression: 18.41 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom
IPR003650 - Orange

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q9BYE0
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0008134 transcription factor binding
GO:0046983 protein dimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001501 skeletal system development
GO:0001756 somitogenesis
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007219 Notch signaling pathway
GO:0007275 multicellular organism development
GO:0007498 mesoderm development
GO:0014807 regulation of somitogenesis
GO:0036342 post-anal tail morphogenesis
GO:0045892 negative regulation of transcription, DNA-templated
GO:0048511 rhythmic process

Cellular Component:
GO:0005634 nucleus

-  Descriptions from all associated GenBank mRNAs
  BC039887 - Homo sapiens, Similar to hairy and enhancer of split 7 (Drosophila), clone IMAGE:5140396, mRNA.
LF209122 - JP 2014500723-A/16625: Polycomb-Associated Non-Coding RNAs.
MA444699 - JP 2018138019-A/16625: Polycomb-Associated Non-Coding RNAs.
AB049064 - Homo sapiens mRNA for bHLH factor Hes7, complete cds.
BC156907 - Synthetic construct Homo sapiens clone IMAGE:100062710, MGC:190593 hairy and enhancer of split 7 (Drosophila) (HES7) mRNA, encodes complete protein.
AB463716 - Synthetic construct DNA, clone: pF1KB9689, Homo sapiens HES7 gene for hairy and enhancer of split 7, without stop codon, in Flexi system.
JD200339 - Sequence 181363 from Patent EP1572962.
LF209121 - JP 2014500723-A/16624: Polycomb-Associated Non-Coding RNAs.
MA444698 - JP 2018138019-A/16624: Polycomb-Associated Non-Coding RNAs.
LF212394 - JP 2014500723-A/19897: Polycomb-Associated Non-Coding RNAs.
MA447971 - JP 2018138019-A/19897: Polycomb-Associated Non-Coding RNAs.
LF213222 - JP 2014500723-A/20725: Polycomb-Associated Non-Coding RNAs.
MA448799 - JP 2018138019-A/20725: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_hesPathway - Segmentation Clock

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHB37, ENST00000317814.1, ENST00000317814.2, ENST00000317814.3, ENST00000317814.4, ENST00000317814.5, ENST00000317814.6, ENST00000317814.7, HES7_HUMAN, NM_032580, Q9BYE0, uc002gkc.1, uc002gkc.2, uc002gkc.3, uc002gkc.4
UCSC ID: ENST00000317814.8
RefSeq Accession: NM_032580
Protein: Q9BYE0 (aka HES7_HUMAN)
CCDS: CCDS42258.1, CCDS54085.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HES7:
cdh-ov (Congenital Diaphragmatic Hernia Overview)
spondylocostal-d (Spondylocostal Dysostosis, Autosomal Recessive)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.