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

    Gene ID: 79365, updated on 10-Dec-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
    mouse all
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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
    • 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. Roles of SHARP1 in thyroid cancer. Zhou ZH, et al. Mol Med Rep, 2016 Jun. PMID 27121679
    2. Differentially Expressed in Chondrocytes 2 (DEC2) Increases the Expression of IL-1β and Is Abundantly Present in Synovial Membrane in Rheumatoid Arthritis. Olkkonen J, et al. PLoS One, 2015. PMID 26710124, Free PMC Article
    3. BHLHE41/DEC2 Expression Induces Autophagic Cell Death in Lung Cancer Cells and Is Associated with Favorable Prognosis for Patients with Lung Adenocarcinoma. Nagata T, et al. Int J Mol Sci, 2021 Oct 26. PMID 34768959, Free PMC Article
    4. DEC2 is a negative regulator for the proliferation and differentiation of chondrocyte lineage-committed mesenchymal stem cells. Sasamoto T, et al. Int J Mol Med, 2016 Sep. PMID 27430159
    5. Inhibition of DEC2 is necessary for exiting cell dormancy in salivary adenoid cystic carcinoma. Yang X, et al. J Exp Clin Cancer Res, 2021 May 14. PMID 33990215, Free PMC Article

    See all (73) 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)

    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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