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BHLHE41 basic helix-loop-helix family member e41 [ Homo sapiens (human) ]

Gene ID: 79365, updated on 2-Nov-2024

Summary

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Official Symbol
BHLHE41provided by HGNC
Official Full Name
basic helix-loop-helix family member e41provided by HGNC
Primary source
HGNC:HGNC:16617
See related
Ensembl:ENSG00000123095 MIM:606200; AllianceGenome:HGNC:16617
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEC2; FNSS1; hDEC2; BHLHB3; SHARP1
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. [provided by RefSeq, Feb 2014]
Expression
Broad expression in thyroid (RPKM 31.2), brain (RPKM 21.3) and 19 other tissues See more
Orthologs
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Genomic context

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See BHLHE41 in Genome Data Viewer
Location:
12p12.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26120030..26125037, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (25992585..25998690, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26272963..26277970, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Ras association domain family member 8 Neighboring gene uncharacterized LOC107984501 Neighboring gene uncharacterized LOC124902901 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:26200376-26200975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4301 Neighboring gene sarcospan Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26866 Neighboring gene ITPR2 and SSPN antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:26379181-26379816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6118 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:26398995-26400194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26902 Neighboring gene uncharacterized LOC105369705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6119 Neighboring gene uncharacterized LOC105369704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6121

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. BHLHE41 suppresses MCF-7 cell invasion via MAPK/JNK pathway. Zhang D, et al. J Cell Mol Med, 2020 Apr. PMID 32073238, Free PMC Article
  2. Unique BHLHB3 overexpression in pediatric acute myeloid leukemia with t(6;11)(q27;q23). Coenen EA, et al. Leukemia, 2014 Jul. PMID 24561520
  3. DEC2 modulates orexin expression and regulates sleep. Hirano A, et al. Proc Natl Acad Sci U S A, 2018 Mar 27. PMID 29531056, Free PMC Article
  4. Maternal venous SHARP1 levels in preeclampsia. Ersoy AO, et al. J Perinat Med, 2017 Oct 26. PMID 27845885
  5. Basic helix-loop-helix transcription factor DEC2 functions as an anti-apoptotic factor during paclitaxel-induced apoptosis in human prostate cancer cells. Liu Q, et al. Int J Mol Med, 2016 Dec. PMID 27840924, Free PMC Article

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. High expression of DEC2 distinguishes chondroblastic osteosarcoma and promotes tumour growth by activating the VEGFC/VEGFR2 signalling pathway.
    Title: High expression of DEC2 distinguishes chondroblastic osteosarcoma and promotes tumour growth by activating the VEGFC/VEGFR2 signalling pathway.
  2. 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.
  3. 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.
  4. Inhibition of DEC2 is necessary for exiting cell dormancy in salivary adenoid cystic carcinoma.
    Title: Inhibition of DEC2 is necessary for exiting cell dormancy in salivary adenoid cystic carcinoma.
  5. BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung Cancer Cells and Is Associated with Favorable Prognosis for Patients with Lung Adenocarcinoma.
    Title: BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung Cancer Cells and Is Associated with Favorable Prognosis for Patients with Lung Adenocarcinoma.
  6. TFEB Transcriptional Responses Reveal Negative Feedback by BHLHE40 and BHLHE41.
    Title: TFEB Transcriptional Responses Reveal Negative Feedback by BHLHE40 and BHLHE41.
  7. The Potential Roles of Dec1 and Dec2 in Periodontal Inflammation.
    Title: The Potential Roles of Dec1 and Dec2 in Periodontal Inflammation.
  8. DEC2 Serves as Potential Tumor Suppressor in Breast Carcinoma.
    Title: DEC2 Serves as Potential Tumor Suppressor in Breast Carcinoma.
  9. BHLHE41 suppresses MCF-7 cell invasion via MAPK/JNK pathway.
    Title: BHLHE41 suppresses MCF-7 cell invasion via MAPK/JNK pathway.
  10. ARID1A-dependent permissive chromatin accessibility licenses estrogen-receptor signaling to regulate circadian rhythms genes in endometrial cancer.
    Title: ARID1A-dependent permissive chromatin accessibility licenses estrogen-receptor signaling to regulate circadian rhythms genes in endometrial cancer.
Submit: New GeneRIF Correction See all GeneRIFs (51)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Short sleep, familial natural, 1
MedGen: C5200932 OMIM: 612975 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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 ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables E-box binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables MRF binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 ISS
Inferred from Sequence or Structural Similarity
more info
  
enables RNA polymerase II-specific DNA-binding transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables bHLH transcription factor binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables histone deacetylase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
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 negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of myotube differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
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 competitive promoter binding ISS
Inferred from Sequence or Structural Similarity
more info
  
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 chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
class E basic helix-loop-helix protein 41
Names
basic helix-loop-helix domain containing, class B, 3
differentially expressed in chondrocytes protein 2
enhancer-of-split and hairy-related protein 1

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.

Genomic

  1. NG_021173.1 RefSeqGene

    Range
    5034..10041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_030762.3 → NP_110389.1  class E basic helix-loop-helix protein 41

    See identical proteins and their annotated locations for NP_110389.1

    Status: REVIEWED

    Source sequence(s)
    AB044088, AW500664, BC025968
    Consensus CDS
    CCDS8706.1
    UniProtKB/Swiss-Prot
    A2I2N8, Q9C0J9
    Related
    ENSP00000242728.4, ENST00000242728.5
    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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    26120030..26125037 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    25992585..25998690 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054373204.1 → XP_054229179.1  class E basic helix-loop-helix protein 41 isoform X1

    UniProtKB/TrEMBL
    Q8TAT1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C0J9.1 GenPept UniProtKB/Swiss-Prot:Q9C0J9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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