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

Gene ID: 79362, updated on 13-Mar-2020

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
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

Genomic context

See Bhlhe41 in Genome Data Viewer
Location:
6 G3; 6 77.7 cM
Exon count:
5
Annotation release Status Assembly Chr Location
108 current GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (145858243..145865420, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (145811257..145813860, complement)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 38927 Neighboring gene VISTA enhancer mm1548 Neighboring gene predicted gene, 32675 Neighboring gene sarcospan

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

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
MRF binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II activating transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II activating transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bHLH transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anterior/posterior pattern specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
circadian regulation of gene expression IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
circadian regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
circadian rhythm IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of myotube differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by competitive promoter binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of neurogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional 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)

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/Swiss-Prot
    Q99PV5
    UniProtKB/TrEMBL
    D3Z2G6
    Related
    ENSMUSP00000107332.1, ENSMUST00000111703.1
    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
    ENSMUSP00000032386.4, ENSMUST00000032386.10
    Conserved Domains (2) summary
    smart00511
    Location:129175
    ORANGE; Orange domain
    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, ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 108 details...Open this link in a new tab

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

Reference GRCm38.p6 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p6 C57BL/6J

    Range
    145858243..145865420 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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