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Aliases for BHLHE40 Gene

Aliases for BHLHE40 Gene

  • Basic Helix-Loop-Helix Family, Member E40 2 3
  • STRA13 3 4 6
  • DEC1 3 4 6
  • Basic Helix-Loop-Helix Domain Containing, Class B, 2 2 3
  • Differentiated Embryo Chondrocyte Expressed Gene 1 2 3
  • Differentially Expressed In Chondrocytes Protein 1 3 4
  • Enhancer-Of-Split And Hairy-Related Protein 2 3 4
  • Stimulated By Retinoic Acid Gene 13 Protein 3 4
  • Differentially Expressed In Chondrocytes 1 2 3
  • Class B Basic Helix-Loop-Helix Protein 2 3 4
  • SHARP-2 3 4
  • BHLHB2 3 4
  • HLHB2 3 6
  • Class E Basic Helix-Loop-Helix Protein 40 3
  • BHLHe40 4
  • Stra14 3
  • SHARP2 4

External Ids for BHLHE40 Gene

Previous HGNC Symbols for BHLHE40 Gene

  • STRA13
  • BHLHB2

Summaries for BHLHE40 Gene

Entrez Gene Summary for BHLHE40 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. [provided by RefSeq, Feb 2014]

GeneCards Summary for BHLHE40 Gene

BHLHE40 (Basic Helix-Loop-Helix Family, Member E40) is a Protein Coding gene. Among its related pathways are Heart Development and HIF-2-alpha transcription factor network. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is BHLHE41.

UniProtKB/Swiss-Prot for BHLHE40 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 PER1/2 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 ARNTL2/BMAL2 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 and NR1H3/LXRA transactivation activity. May be involved in the regulation of chondrocyte differentiation via the cAMP pathway.

Gene Wiki entry for BHLHE40 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHE40 Gene

Genomics for BHLHE40 Gene

Regulatory Elements for BHLHE40 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BHLHE40 Gene

Start:
4,979,116 bp from pter
End:
4,985,323 bp from pter
Size:
6,208 bases
Orientation:
Plus strand

Genomic View for BHLHE40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BHLHE40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHE40 Gene

Proteins for BHLHE40 Gene

  • Protein details for BHLHE40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14503-BHE40_HUMAN
    Recommended name:
    Class E basic helix-loop-helix protein 40
    Protein Accession:
    O14503
    Secondary Accessions:
    • Q96TD3

    Protein attributes for BHLHE40 Gene

    Size:
    412 amino acids
    Molecular mass:
    45510 Da
    Quaternary structure:
    • Homodimer. Heterodimer with BHLHE41/DEC2. Interacts with TCF3/E47. Interacts with ubiquitin-conjugating enzyme UBE2I/UBC9. Interacts with HDAC1, SUMO1, RXRA and ARNTL/BMAL1.

neXtProt entry for BHLHE40 Gene

Proteomics data for BHLHE40 Gene at MOPED

Post-translational modifications for BHLHE40 Gene

  • Sumoylation inhibits its ubiquitination and promotes its negative regulation of the CLOCK-ARNTL/BMAL1 heterodimer transcriptional activator activity.
  • Ubiquitinated; which may lead to proteasomal degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BHLHE40 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for BHLHE40 Gene

Domains for BHLHE40 Gene

Gene Families for BHLHE40 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for BHLHE40 Gene

Suggested Antigen Peptide Sequences for BHLHE40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14503

UniProtKB/Swiss-Prot:

BHE40_HUMAN :
  • O14503
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
  • Contains 1 Orange domain.
genes like me logo Genes that share domains with BHLHE40: view

Function for BHLHE40 Gene

Molecular function for BHLHE40 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 PER1/2 and in turn is repressed by PER1/2 and CRY1/2. Represses the activity of the circadian transcriptional activator: CLOCK-ARNTL/BMAL1 ARNTL2/BMAL2 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 and NR1H3/LXRA transactivation activity. May be involved in the regulation of chondrocyte differentiation via the cAMP pathway.

Gene Ontology (GO) - Molecular Function for BHLHE40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IDA 12397359
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA 12624110
GO:0001102 RNA polymerase II activating transcription factor binding ISS --
GO:0001191 RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription IDA 12397359
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with BHLHE40: view
genes like me logo Genes that share phenotypes with BHLHE40: view

Animal Models for BHLHE40 Gene

MGI Knock Outs for BHLHE40:

Animal Model Products

CRISPR Products

miRNA for BHLHE40 Gene

miRTarBase miRNAs that target BHLHE40
Targeting motifs for BHLHE40 Gene
HOMER Transcription Factor Regulatory Elements motif BHLHE40
  • Consensus sequence: KCACGTGMCN Submotif: canonical Cell Type: HepG2 GeoId: GSE31477

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BHLHE40

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for BHLHE40 Gene

Localization for BHLHE40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHE40 Gene

Cytoplasm. Nucleus. Nucleus, nucleolus. Note=Predominantly localized in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BHLHE40 Gene COMPARTMENTS Subcellular localization image for BHLHE40 gene
Compartment Confidence
nucleus 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for BHLHE40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9240428
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with BHLHE40: view

Pathways for BHLHE40 Gene

genes like me logo Genes that share pathways with BHLHE40: view

Pathways by source for BHLHE40 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BHLHE40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 12397359
GO:0006355 regulation of transcription, DNA-templated NAS 9240428
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007623 circadian rhythm TAS --
GO:0009416 response to light stimulus --
genes like me logo Genes that share ontologies with BHLHE40: view

Compounds for BHLHE40 Gene

(1) HMDB Compounds for BHLHE40 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4

(3) Novoseek inferred chemical compound relationships for BHLHE40 Gene

Compound -log(P) Hits PubMed IDs
retinoic acid 38.7 2
vegf 18.6 3
forskolin 18.4 3
genes like me logo Genes that share compounds with BHLHE40: view

Transcripts for BHLHE40 Gene

mRNA/cDNA for BHLHE40 Gene

Unigene Clusters for BHLHE40 Gene

Basic helix-loop-helix family, member e40:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BHLHE40

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHE40 Gene

No ASD Table

Relevant External Links for BHLHE40 Gene

GeneLoc Exon Structure for
BHLHE40
ECgene alternative splicing isoforms for
BHLHE40

Expression for BHLHE40 Gene

mRNA expression in normal human tissues for BHLHE40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BHLHE40 Gene

SOURCE GeneReport for Unigene cluster for BHLHE40 Gene Hs.744856

mRNA Expression by UniProt/SwissProt for BHLHE40 Gene

O14503-BHE40_HUMAN
Tissue specificity: Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain, liver, muscle and stomach
genes like me logo Genes that share expressions with BHLHE40: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for BHLHE40 Gene

Orthologs for BHLHE40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BHLHE40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BHLHE40 35
  • 99.68 (n)
  • 100 (a)
BHLHE40 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BHLHE40 35
  • 90.61 (n)
  • 94.17 (a)
BHLHE40 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BHLHE40 35
  • 92.39 (n)
  • 95.87 (a)
BHLHE40 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bhlhe40 35
  • 87.92 (n)
  • 90.51 (a)
Bhlhe40 16
Bhlhe40 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BHLHE40 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BHLHE40 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhlhe40 35
  • 86.78 (n)
  • 90.02 (a)
chicken
(Gallus gallus)
Aves BHLHE40 35
  • 72.33 (n)
  • 73.75 (a)
BHLHE40 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BHLHB2 36
  • 70 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii bhlhe40 35
  • 64.81 (n)
  • 62.88 (a)
bhlhe40 36
  • 58 (a)
OneToOne
wufm54h07 35
Species with no ortholog for BHLHE40:
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 BHLHE40 Gene

ENSEMBL:
Gene Tree for BHLHE40 (if available)
TreeFam:
Gene Tree for BHLHE40 (if available)

Paralogs for BHLHE40 Gene

Paralogs for BHLHE40 Gene

Selected SIMAP similar genes for BHLHE40 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with BHLHE40: view

Variants for BHLHE40 Gene

Sequence variations from dbSNP and Humsavar for BHLHE40 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs867893 -- 4,977,894(+) ACAAT(G/T)AAATT upstream-variant-2KB
rs908078 -- 4,983,086(+) AAAGG(C/T)TCGGA synonymous-codon, reference
rs1058377 -- 4,984,985(+) GATTC(A/C)CACAG utr-variant-3-prime
rs1058380 -- 4,985,023(+) TTGAA(A/G)AGAAG utr-variant-3-prime
rs1058395 -- 4,985,145(+) TAAAA(A/T)ACTTA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BHLHE40 Gene

Variant ID Type Subtype PubMed ID
nsv834606 CNV Loss 17160897
nsv876471 CNV Gain 21882294

Relevant External Links for BHLHE40 Gene

HapMap Linkage Disequilibrium report
BHLHE40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BHLHE40 Gene

Disorders for BHLHE40 Gene

(7) Novoseek inferred disease relationships for BHLHE40 Gene

Disease -log(P) Hits PubMed IDs
colon carcinoma 26.8 2
tumors 8.58 4
carcinoma 6.79 4
breast cancer 0 4
colorectal cancer 0 1

Relevant External Links for BHLHE40

Genetic Association Database (GAD)
BHLHE40
Human Genome Epidemiology (HuGE) Navigator
BHLHE40
genes like me logo Genes that share disorders with BHLHE40: view

No data available for UniProtKB/Swiss-Prot for BHLHE40 Gene

Publications for BHLHE40 Gene

  1. Molecular characterization of the novel basic helix-loop-helix protein DEC1 expressed in differentiated human embryo chondrocytes. (PMID: 9240428) Shen M. … Kato Y. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 23
  2. Gene structure and chromosomal location of a human bHLH transcriptional factor DEC1 x Stra13 x SHARP-2/BHLHB2. (PMID: 11226878) Teramoto M. … Kato Y. (J. Biochem. 2001) 3 4 23
  3. Functional analysis of the basic helix-loop-helix transcription factor DEC1 in circadian regulation. Interaction with BMAL1. (PMID: 15560782) Sato F. … Kato Y. (Eur. J. Biochem. 2004) 3 4 23
  4. DEC1 (STRA13) protein expression relates to hypoxia- inducible factor 1-alpha and carbonic anhydrase-9 overexpression in non-small cell lung cancer. (PMID: 12754744) Giatromanolaki A. … Harris A.L. (J. Pathol. 2003) 3 23
  5. Abundant expression of Dec1/stra13/sharp2 in colon carcinoma: its antagonizing role in serum deprivation-induced apoptosis and selective inhibition of procaspase activation. (PMID: 12119049) Li Y. … Yan B. (Biochem. J. 2002) 3 23

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