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Aliases for BHLHE41 Gene

Aliases for BHLHE41 Gene

  • Basic Helix-Loop-Helix Family Member E41 2 3 5
  • Enhancer-Of-Split And Hairy-Related Protein 1 2 3 4
  • Basic Helix-Loop-Helix Domain Containing, Class B, 3 2 3
  • Differentially Expressed In Chondrocytes Protein 2 3 4
  • BHLHB3 3 4
  • SHARP1 3 4
  • HDEC2 3 4
  • DEC2 3 4
  • Differentially Expressed In Chondrocytes 2 2
  • Class E Basic Helix-Loop-Helix Protein 41 3
  • Basic Helix-Loop-Helix Family, Member E41 2
  • Class B Basic Helix-Loop-Helix Protein 3 4
  • SHARP-1 4
  • BHLHe41 4
  • BHLHb3 4

External Ids for BHLHE41 Gene

Previous HGNC Symbols for BHLHE41 Gene

  • BHLHB3

Previous GeneCards Identifiers for BHLHE41 Gene

  • GC12M026165
  • GC12M026272
  • GC12M026043

Summaries for BHLHE41 Gene

Entrez Gene Summary for BHLHE41 Gene

  • 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. [provided by RefSeq, Feb 2014]

GeneCards Summary for BHLHE41 Gene

BHLHE41 (Basic Helix-Loop-Helix Family Member E41) is a Protein Coding gene. Diseases associated with BHLHE41 include Short Sleeper. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Circadian rhythm. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is BHLHE40.

UniProtKB/Swiss-Prot for BHLHE41 Gene

  • Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5-CACGTG-3) found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity.

Gene Wiki entry for BHLHE41 Gene

Additional gene information for BHLHE41 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHE41 Gene

Genomics for BHLHE41 Gene

GeneHancer (GH) Regulatory Elements for BHLHE41 Gene

Promoters and enhancers for BHLHE41 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J026119 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.8 1815 8.2 PKNOX1 CLOCK SIN3A FEZF1 DMAP1 ZNF2 FOS KLF13 SP3 REST SSPN BHLHE41 TDGP1 ENSG00000255858 ENSG00000257009 LOC100421617 ENSG00000256894
GH12J026268 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.6 -147.5 -147462 8.1 MLX FEZF1 SLC30A9 ZNF213 ZNF143 SP3 ZNF610 GLIS1 RCOR2 NBN BHLHE41 ENSG00000255858 ENSG00000257009 LOC100421617 ENSG00000256226 C12orf71 ENSG00000255968 ENSG00000255750 ENSG00000256625 ENSG00000256234
GH12J026194 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 11.7 -70.9 -70922 2.3 MXI1 L3MBTL2 SUZ12 MAX ZBTB8A ZIC2 ZNF335 GLIS2 POLR2A ZBTB48 SSPN ENSG00000256234 BHLHE41 GC12P026202 GC12M026191 GC12P026153
GH12J026298 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -174.1 -174074 1.6 PKNOX1 ATF1 GLI4 ZNF2 IRF4 GTF3C2 ZNF766 FOS ATF7 RUNX3 TDGP1 ENSG00000255858 ENSG00000255750 ENSG00000256234 BHLHE41 GC12P026302 GC12P026286 LOC105369705 SSPN
GH12J026286 Enhancer 0.9 FANTOM5 Ensembl ENCODE dbSUPER 16.7 -162.8 -162827 2.6 EBF1 GC12P026286 BHLHE41 ENSG00000255968 ENSG00000255750 ENSG00000256234 SSPN ENSG00000255858 GC12P026302 LOC105369705
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BHLHE41 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BHLHE41 gene promoter:

Genomic Locations for BHLHE41 Gene

Genomic Locations for BHLHE41 Gene
chr12:26,120,026-26,125,127
(GRCh38/hg38)
Size:
5,102 bases
Orientation:
Minus strand
chr12:26,272,959-26,278,060
(GRCh37/hg19)

Genomic View for BHLHE41 Gene

Genes around BHLHE41 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHLHE41 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BHLHE41 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHE41 Gene

Proteins for BHLHE41 Gene

  • Protein details for BHLHE41 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C0J9-BHE41_HUMAN
    Recommended name:
    Class E basic helix-loop-helix protein 41
    Protein Accession:
    Q9C0J9
    Secondary Accessions:
    • A2I2N8

    Protein attributes for BHLHE41 Gene

    Size:
    482 amino acids
    Molecular mass:
    50498 Da
    Quaternary structure:
    • Homodimer. Heterodimer with BHLHE40/DEC1. Interacts with CIART and ARNTL/BMAL1 (By similarity). Interacts with RXRA.

neXtProt entry for BHLHE41 Gene

Post-translational modifications for BHLHE41 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHLHE41 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BHLHE41 Gene

Domains & Families for BHLHE41 Gene

Gene Families for BHLHE41 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for BHLHE41 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with BHLHE41: view

No data available for UniProtKB/Swiss-Prot for BHLHE41 Gene

Function for BHLHE41 Gene

Molecular function for BHLHE41 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor involved in the regulation of the circadian rhythm by negatively regulating the activity of the clock genes and clock-controlled genes. Acts as the negative limb of a novel autoregulatory feedback loop (DEC loop) which differs from the one formed by the PER and CRY transcriptional repressors (PER/CRY loop). Both these loops are interlocked as it represses the expression of PER1 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 heterodimer by competing for the binding to E-box elements (5-CACGTG-3) found within the promoters of its target genes. Negatively regulates its own expression and the expression of DBP and BHLHE41/DEC2. Acts as a corepressor of RXR and the RXR-LXR heterodimers and represses the ligand-induced RXRA/B/G, NR1H3/LXRA, NR1H4 and VDR transactivation activity.

Phenotypes From GWAS Catalog for BHLHE41 Gene

Gene Ontology (GO) - Molecular Function for BHLHE41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM 19274049
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS --
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding ISS --
genes like me logo Genes that share ontologies with BHLHE41: view
genes like me logo Genes that share phenotypes with BHLHE41: view

Animal Model Products

miRNA for BHLHE41 Gene

miRTarBase miRNAs that target BHLHE41

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BHLHE41 Gene

Localization for BHLHE41 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHE41 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BHLHE41 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BHLHE41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BHLHE41: view

Pathways & Interactions for BHLHE41 Gene

genes like me logo Genes that share pathways with BHLHE41: view

Pathways by source for BHLHE41 Gene

1 KEGG pathway for BHLHE41 Gene
1 R&D Systems pathway for BHLHE41 Gene
1 Qiagen pathway for BHLHE41 Gene

SIGNOR curated interactions for BHLHE41 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BHLHE41 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 14672706
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007623 circadian rhythm IEA --
GO:0008283 cell proliferation NAS 11162494
genes like me logo Genes that share ontologies with BHLHE41: view

Drugs & Compounds for BHLHE41 Gene

(1) Additional Compounds for BHLHE41 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BHLHE41: view

Transcripts for BHLHE41 Gene

mRNA/cDNA for BHLHE41 Gene

(169) Selected AceView cDNA sequences:
(8) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BHLHE41 Gene

Basic helix-loop-helix family, member e41:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHE41 Gene

No ASD Table

Relevant External Links for BHLHE41 Gene

GeneLoc Exon Structure for
BHLHE41
ECgene alternative splicing isoforms for
BHLHE41

Expression for BHLHE41 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BHLHE41 Gene

mRNA differential expression in normal tissues according to GTEx for BHLHE41 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x5.2).

Protein differential expression in normal tissues from HIPED for BHLHE41 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BHLHE41 Gene



Protein tissue co-expression partners for BHLHE41 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BHLHE41 Gene:

BHLHE41

SOURCE GeneReport for Unigene cluster for BHLHE41 Gene:

Hs.177841

mRNA Expression by UniProt/SwissProt for BHLHE41 Gene:

Q9C0J9-BHE41_HUMAN
Tissue specificity: Highly expressed in skeletal muscle and brain, moderately expressed in pancreas and heart, weakly expressed in placenta, lung, liver and kidney.

Evidence on tissue expression from TISSUES for BHLHE41 Gene

  • Nervous system(3.5)
  • Muscle(2.7)
  • Stomach(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with BHLHE41: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BHLHE41 Gene

Orthologs for BHLHE41 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BHLHE41 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BHLHE41 34 33
  • 99.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bhlhe41 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHE41 34
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BHLHE41 34
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BHLHE41 34
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BHLHE41 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bhlhe41 34
  • 51 (a)
OneToOne
Species where no ortholog for BHLHE41 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BHLHE41 Gene

ENSEMBL:
Gene Tree for BHLHE41 (if available)
TreeFam:
Gene Tree for BHLHE41 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BHLHE41: view image

Paralogs for BHLHE41 Gene

Paralogs for BHLHE41 Gene

(3) SIMAP similar genes for BHLHE41 Gene using alignment to 2 proteins:

  • BHE41_HUMAN
  • Q8TAT1_HUMAN
genes like me logo Genes that share paralogs with BHLHE41: view

Variants for BHLHE41 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for BHLHE41 Gene

BHE41_HUMAN-Q9C0J9
Genetic variations in BHLHE41 are associated with the short sleep phenotype [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.

Sequence variations from dbSNP and Humsavar for BHLHE41 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs121912617 affects, Short-sleeper 26,122,364(-) G/A/C/T coding_sequence_variant, missense_variant
rs1000152105 -- 26,123,890(-) A/G intron_variant
rs1000264657 -- 26,121,140(-) G/C 3_prime_UTR_variant
rs1001655422 -- 26,123,091(-) CTTCTT/CTT coding_sequence_variant, inframe_deletion
rs1001923651 -- 26,121,548(-) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for BHLHE41 Gene

Variant ID Type Subtype PubMed ID
esv3581126 CNV gain 25503493

Variation tolerance for BHLHE41 Gene

Gene Damage Index Score: 10.12; 90.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BHLHE41 Gene

Human Gene Mutation Database (HGMD)
BHLHE41
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BHLHE41

Disorders for BHLHE41 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BHLHE41 Gene - From: HGMD, OMIM, GTR, and GeneCards

Disorder Aliases PubMed IDs
short sleeper
  • short sleep phenotype
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BHLHE41

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BHLHE41: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BHLHE41 Gene

Publications for BHLHE41 Gene

  1. Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins. (PMID: 11162494) Fujimoto K … Kato Y (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  2. Functional analysis of the basic helix-loop-helix transcription factor DEC1 in circadian regulation. Interaction with BMAL1. (PMID: 15560782) Sato F … Kato Y (European journal of biochemistry 2004) 3 4 22 58
  3. The basic helix-loop-helix proteins differentiated embryo chondrocyte (DEC) 1 and DEC2 function as corepressors of retinoid X receptors. (PMID: 19786558) Cho Y … Makishima M (Molecular pharmacology 2009) 3 4 58
  4. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. (PMID: 19839995) Mansour HA … Nimgaonkar VL (Bipolar disorders 2009) 3 44 58
  5. The transcriptional repressor DEC2 regulates sleep length in mammals. (PMID: 19679812) He Y … Fu YH (Science (New York, N.Y.) 2009) 3 4 58

Products for BHLHE41 Gene

Sources for BHLHE41 Gene

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