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

    Gene ID: 84667, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See HES7 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8120592..8126634, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8025967..8032000, complement)
    105.20220307 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

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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
    part_of 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

    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)

    NEW Try the new Transcript table

    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_001165967.2NP_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:1473
      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_032580.4NP_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:1473
      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_2023_10

    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_047436941.1XP_047292897.1  transcription factor HES-7 isoform X2

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

    3. XM_047436942.1XP_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_054317564.1XP_054173539.1  transcription factor HES-7 isoform X2

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

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