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

Gene ID: 79362, updated on 28-May-2016
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 Vega:OTTMUSG00000025458
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; 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]
Orthologs
Location:
6 77.7 cM; 6 G2-G3
Exon count:
5
Annotation release Status Assembly Chr Location
105 current GRCm38.p3 (GCF_000001635.23) 6 NC_000072.6 (145858243..145865591, 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 15704 Neighboring gene Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 Neighboring gene predicted gene, 38927 Neighboring gene predicted gene, 32675 Neighboring gene sarcospan Neighboring gene sarcospan, opposite strand

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
    BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Bmal1:Clock,Npas2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
    Bmal1:Clock,Npas2 activates circadian gene expression, organism-specific biosystemBmal1:Clock (Arntl:Clock) and Bmal1:Npas2 (Arntl:Npas2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et al. 1998, reviewed in M...
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemAt the center of the mouse circadian clock is a negative transcription/translation-based feedback loop: The Bmal1:Clock/Npas2 (Arntl:Clock/Npas2) heterodimer transactivates Cryptochrome (Cry) and Per...
  • Circadian Clock, organism-specific biosystem (from REACTOME)
    Circadian Clock, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Circadian rhythm, organism-specific biosystem (from KEGG)
    Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Circadian rhythm, conserved biosystem (from KEGG)
    Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
  • Mus musculus biological processes, organism-specific biosystem (from REACTOME)
    Mus musculus biological processes, organism-specific biosystemCertain mouse pathways have been fully manually curated in Reactome in order to support the manual inference of well-conserved but less well-studied human pathways. These pathways include Circadian...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
E-box binding IDA
Inferred from Direct Assay
more info
PubMed 
MRF binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT N-box 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 core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
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 IDA
Inferred from Direct Assay
more info
PubMed 
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 
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor activity, RNA polymerase II transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor complex TAS
Traceable Author Statement
more info
PubMed 
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

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, OTTMUSP00000030951, ENSMUST00000111703, OTTMUST00000062686
    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, OTTMUSP00000030950, ENSMUST00000032386, OTTMUST00000062685
    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 105 details...

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

Reference GRCm38.p3 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p3 C57BL/6J

    Range
    145858243..145865591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_869558.1 RNA Sequence

Alternate Mm_Celera

Genomic

  1. AC_000028.1 Alternate Mm_Celera

    Range
    148930462..148937635 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)