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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
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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)

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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.

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)