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HES7 hes family bHLH transcription factor 7 [ Homo sapiens (human) ]

Gene ID: 84667, updated on 10-Dec-2024

Summary

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Official Symbol
HES7provided by HGNC
Official Full Name
hes family bHLH transcription factor 7provided by HGNC
Primary source
HGNC:HGNC:15977
See related
Ensembl:ENSG00000179111 MIM:608059; AllianceGenome:HGNC:15977
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCDO4; hHes7; bHLHb37
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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See HES7 in Genome Data Viewer
Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8120592..8126634, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8025967..8032000, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8023910..8027424, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8154 Neighboring gene tRNA-Gln (anticodon CTG) 1-5 Neighboring gene tRNA-Leu (anticodon TAG) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8155 Neighboring gene tRNA-Arg (anticodon TCT) 2-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8027282-8027802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8157 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8029079-8029880 Neighboring gene tRNA-Gly (anticodon GCC) 2-6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8036923-8037422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8162 Neighboring gene tRNA-Ser (anticodon CGA) 1-1 Neighboring gene tRNA-Thr (anticodon AGT) 5-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. Sparrow DB, et al. Eur J Hum Genet, 2010 Jun. PMID 20087400, Free PMC Article
  2. Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. Sparrow DB, et al. Am J Med Genet A, 2013 Sep. PMID 23897666
  3. Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation. Netravathi M, et al. BMC Med Genet, 2015 Feb 10. PMID 25928698, Free PMC Article
  4. Species-specific segmentation clock periods are due to differential biochemical reaction speeds. Matsuda M, et al. Science, 2020 Sep 18. PMID 32943519
  5. Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis. Qiu XS, et al. Stud Health Technol Inform, 2012. PMID 22744456

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Species-specific segmentation clock periods are due to differential biochemical reaction speeds.
    Title: Species-specific segmentation clock periods are due to differential biochemical reaction speeds.
  2. an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation
    Title: Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.
  3. mutation of HES7 is uniquely associated with defects in vertebral, heart and neural tube formation, and this observation will help provide a discriminatory diagnostic guide in patients with SCD, as well as inform molecular genetic testing.
    Title: Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
  4. MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.
    Title: Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.
  5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  6. Two new missense mutations in HES7 in a family with spondylocostal dysostosis.
    Title: Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.
  7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Risk of meningioma and common variation in genes related to innate immunity.
  9. R25W missense mutation of HES7 is causative of Spondylocostal dysostosis.
    Title: Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mesoderm development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in post-anal tail morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
  
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
transcription factor HES-7
Names
bHLH factor Hes7
class B basic helix-loop-helix protein 37
hairy and enhancer of split 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015816.1 RefSeqGene

    Range
    4987..8501
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001165967.2 → NP_001159439.1  transcription factor HES-7 isoform 1

    See identical proteins and their annotated locations for NP_001159439.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC129492, BC039887, BI259590
    Consensus CDS
    CCDS54085.1
    UniProtKB/Swiss-Prot
    Q9BYE0
    Related
    ENSP00000446205.2, ENST00000541682.7
    Conserved Domains (1) summary
    cd00083
    Location:14 → 73
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

  2. NM_032580.4 → NP_115969.2  transcription factor HES-7 isoform 2

    See identical proteins and their annotated locations for NP_115969.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) lacks a five amino acid segment, compared to isoform 1.
    Source sequence(s)
    AB049064, AC129492, BC039887, BI259590
    Consensus CDS
    CCDS42258.1
    UniProtKB/Swiss-Prot
    F8VPC9, Q9BYE0
    Related
    ENSP00000314774.4, ENST00000317814.8
    Conserved Domains (1) summary
    cd00083
    Location:14 → 73
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8120592..8126634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047436941.1 → XP_047292897.1  transcription factor HES-7 isoform X2

  2. XM_047436940.1 → XP_047292896.1  transcription factor HES-7 isoform X1

  3. XM_047436942.1 → XP_047292898.1  transcription factor HES-7 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8025967..8032000 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317564.1 → XP_054173539.1  transcription factor HES-7 isoform X2

  2. XM_054317563.1 → XP_054173538.1  transcription factor HES-7 isoform X4

  3. XM_054317565.1 → XP_054173540.1  transcription factor HES-7 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYE0.2 GenPept UniProtKB/Swiss-Prot:Q9BYE0

Gene LinkOut

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