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

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: human all
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Genomic context

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues.
Title: BHLHE40/41 regulate microglia and peripheral macrophage responses associated with Alzheimer's disease and other disorders of lipid-rich tissues.
Approach to Functions of BHLHE41/DEC2 in Non-Small Lung Cancer Development.
Title: Approach to Functions of BHLHE41/DEC2 in Non-Small Lung Cancer Development.
Dec2 negatively regulates bone resorption in periodontitis.
Title: Dec2 negatively regulates bone resorption in periodontitis.
Postnatal regulation of B-1a cell development and survival by the CIC-PER2-BHLHE41 axis.
Title: Postnatal regulation of B-1a cell development and survival by the CIC-PER2-BHLHE41 axis.
CHRONO and DEC1/DEC2 compensate for lack of CRY1/CRY2 in expression of coherent circadian rhythm but not in generation of circadian oscillation in the neonatal mouse SCN.
Title: CHRONO and DEC1/DEC2 compensate for lack of CRY1/CRY2 in expression of coherent circadian rhythm but not in generation of circadian oscillation in the neonatal mouse SCN.
Circadian Clock Component Rev-erbalpha Regulates Diurnal Rhythm of UDP-Glucuronosyltransferase 1a9 and Drug Glucuronidation in Mice.
Title: Circadian Clock Component Rev-erbα Regulates Diurnal Rhythm of UDP-Glucuronosyltransferase 1a9 and Drug Glucuronidation in Mice.
MicroRNA-16 directly binds to DEC2 and inactivates the TLR4 signaling pathway to inhibit lupus nephritis-induced kidney tissue hyperplasia and mesangial cell proliferation.
Title: MicroRNA-16 directly binds to DEC2 and inactivates the TLR4 signaling pathway to inhibit lupus nephritis-induced kidney tissue hyperplasia and mesangial cell proliferation.
Single cell RNA-sequencing identified Dec2 as a suppressive factor for spermatogonial differentiation by inhibiting Sohlh1 expression.
Title: Single cell RNA-sequencing identified Dec2 as a suppressive factor for spermatogonial differentiation by inhibiting Sohlh1 expression.
Results identify Bhlhe41 as one of the key regulators of alveolar macrophages self-renewal and guardians of their identity providing the first line of immune defense and executes homeostatic functions in lung alveoli.
Title: Bhlhe40 and Bhlhe41 transcription factors regulate alveolar macrophage self-renewal and identity.
this study identified P21 and Sharp1 as HDAC4 target genes.
Title: HDAC4 regulates satellite cell proliferation and differentiation by targeting P21 and Sharp1 genes.

Submit: New GeneRIF Correction See all GeneRIFs (39)

Variation

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Alleles

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

Endonuclease-mediated (2) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bhlhe41 (e-PCR), detects polymorphism
- UniSTS:546522

AI170756 (e-PCR)
- UniSTS:261595

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

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
involved_in circadian regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian rhythm	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of myotube differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by competitive promoter binding	IDA Inferred from Direct Assay more info	PubMed
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

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

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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)

NM_001271768.1 → NP_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:46 → 104

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, ...
NM_024469.2 → NP_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:129 → 175

ORANGE; Orange domain

cd19750
Location:31 → 122

bHLH-O_DEC2; basic helix-loop-helix-orange (bHLH-O) domain found in differentially expressed in chondrocytes protein 2 (DEC2) and similar proteins