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    Bhlhe41 basic helix-loop-helix family, member e41 [ Mus musculus (house mouse) ]

    Gene ID: 79362, updated on 9-Dec-2024

    Summary

    Official Symbol
    Bhlhe41provided by MGI
    Official Full Name
    basic helix-loop-helix family, member e41provided by MGI
    Primary source
    MGI:MGI:1930704
    See related
    Ensembl:ENSMUSG00000030256 AllianceGenome:MGI:1930704
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    DEC2; Bhlhb3; Sharp1; Bhlhb2l; 6430520M22Rik
    Summary
    This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with Arntl or compete for E-box binding sites in the promoter of Per1 and repress Clock/Arntl's transactivation of Per1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2014]
    Expression
    Broad expression in mammary gland adult (RPKM 17.6), adrenal adult (RPKM 12.4) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bhlhe41 in Genome Data Viewer
    Location:
    6 G3; 6 77.7 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (145803969..145811146, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (145858243..145865420, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene 15704 Neighboring gene Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 Neighboring gene STARR-positive B cell enhancer mm9_chr6:145778656-145778957 Neighboring gene VISTA enhancer mm1548 Neighboring gene predicted gene, 38927 Neighboring gene STARR-positive B cell enhancer mm9_chr6:145832170-145832470 Neighboring gene STARR-positive B cell enhancer ABC_E10420 Neighboring gene STARR-seq mESC enhancer starr_17793 Neighboring gene sarcospan Neighboring gene predicted gene, 32838 Neighboring gene predicted gene, 38928

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables E-box binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables E-box binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables MRF binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables bHLH transcription factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables bHLH transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables bHLH transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone deacetylase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription repressor complex TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    class E basic helix-loop-helix protein 41
    Names
    bHLH transcriptional factor Dec2
    basic helix-loop-helix domain containing, class B3
    class B basic helix-loop-helix protein 3
    differentially expressed in chondrocytes protein 2

    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.

    mRNA and Protein(s)

    1. NM_001271768.1NP_001258697.1  class E basic helix-loop-helix protein 41 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA013582, AB044090, AC144936, BE980915, BE985179
      Consensus CDS
      CCDS71860.1
      UniProtKB/TrEMBL
      D3Z2G6
      Related
      ENSMUSP00000107332.2, ENSMUST00000111703.2
      Conserved Domains (1) summary
      cd00083
      Location:46104
      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_024469.2NP_077789.1  class E basic helix-loop-helix protein 41 isoform 1

      See identical proteins and their annotated locations for NP_077789.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA013582, AB044090, AC144936, BE985179
      Consensus CDS
      CCDS20697.1
      UniProtKB/Swiss-Prot
      Q99PV5
      UniProtKB/TrEMBL
      Q6L8F5
      Related
      ENSMUSP00000032386.5, ENSMUST00000032386.11
      Conserved Domains (2) summary
      smart00511
      Location:129175
      ORANGE; Orange domain
      cd19750
      Location:31122
      bHLH-O_DEC2; basic helix-loop-helix-orange (bHLH-O) domain found in differentially expressed in chondrocytes protein 2 (DEC2) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      145803969..145811146 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)