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BHLHE41 Gene

protein-coding   GIFtS: 56
GCID: GC12M026272

Basic Helix-Loop-Helix Family, Member E41

(Previous names: basic helix-loop-helix domain containing, class B, 3)
(Previous symbol: BHLHB3)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Basic Helix-Loop-Helix Family, Member E411 2     hDEC22 3
BHLHB31 2 3 5     Differentially Expressed In Chondrocytes 21
Enhancer-Of-Split And Hairy-Related Protein 11 2 3     Class E Basic Helix-Loop-Helix Protein 412
DEC22 3 5     SHARP-13
SHARP12 3 5     bHLHb33
Basic Helix-Loop-Helix Domain Containing, Class B, 31 2     bHLHe413
Differentially Expressed In Chondrocytes Protein 22 3     Class B Basic Helix-Loop-Helix Protein 33

External Ids:    HGNC: 166171   Entrez Gene: 793652   Ensembl: ENSG000001230957   OMIM: 6062005   UniProtKB: Q9C0J93   

Export aliases for BHLHE41 gene to outside databases

Previous GC identifers: GC12M026165 GC12M026043


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bipolar i disorder, and schizoaffective disorder. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is BHLHE40.

UniProtKB/Swiss-Prot: BHE41_HUMAN, Q9C0J9
Function: May be a transcriptional repressor that represses both basal and activated transcription

Gene Wiki entry for BHLHE41 (BHLHB3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NC_018923.2  NT_009714.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the BHLHE41 gene promoter:
         TBP   GCNF   Lmo2   MyoD   C/EBPalpha   CHOP-10   PPAR-alpha   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBHLHE41 promoter sequence
   Search Chromatin IP Primers for BHLHE41

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BHLHE41


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p12.1   Ensembl cytogenetic band:  12p12.1   HGNC cytogenetic band: 12p12.1

BHLHE41 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHLHE41 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M026272:  view genomic region     (about GC identifiers)

Start:
26,272,959 bp from pter      End:
26,278,060 bp from pter
Size:
5,102 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BHE41_HUMAN, Q9C0J9 (See protein sequence)
Recommended Name: Class E basic helix-loop-helix protein 41  
Size: 482 amino acids; 50498 Da
Subunit: Homodimerize
Secondary accessions: A2I2N8

Explore the universe of human proteins at neXtProt for BHLHE41: NX_Q9C0J9

Explore proteomics data for BHLHE41 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BHLHE41 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_110389.1  
    ENSEMBL proteins: 
     ENSP00000242728  
    Reactome Protein details: Q9C0J9

    BHLHE41 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bHLH: Basic helix-loop-helix proteins

    3 InterPro protein domains:
     IPR018352 Orange_subgr
     IPR003650 Orange
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9C0J9

    ProtoNet protein and cluster: Q9C0J9

    2 Blocks protein domains:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB003650 Orange


    UniProtKB/Swiss-Prot: BHE41_HUMAN, Q9C0J9
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    BHLHE41 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BHE41_HUMAN, Q9C0J9
    Function: May be a transcriptional repressor that represses both basal and activated transcription

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS--
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity ----
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription ISS--
    GO:0001102RNA polymerase II activating transcription factor binding ISS--
    GO:0001191RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription ISS--
         
    BHLHE41 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bhlhe41):
     behavior/neurological  hematopoietic system  immune system 

    BHLHE41 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BHLHE41: Bhlhe41tm1.1Cdon Bhlhe41tm1Mjro

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BHLHE41
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BHLHE41

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BHLHE41
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BHLHE41

    miRNA
    Products:
        
    miRTarBase miRNAs that target BHLHE41:
    hsa-mir-186-5p (MIRT044939), hsa-mir-335-5p (MIRT018496)

    Block miRNA regulation of human, mouse, rat BHLHE41 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BHLHE41 (see all 114):
    hsa-miR-100* hsa-miR-15a hsa-miR-106a hsa-miR-128 hsa-miR-4305 hsa-miR-519a hsa-miR-342-3p hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidBHLHE41 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BHLHE41
    Predesigned siRNA for gene silencing in human, mouse, rat BHLHE41

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: BHLHE41 (NM_030762)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BHLHE41

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    Browse ESI BIO Cell Lines and PureStem Progenitors for BHLHE41 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE41


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BHE41_HUMAN, Q9C0J9: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    BHLHE41 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BHLHE41 About    
    See pathways by source

    SuperPathContained pathways About
    1Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    2Circadian rhythm
    Circadian rhythm0.31
    3HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for BHLHE41
        Circadian Clock in Mammals

    1 BioSystems Pathway for BHLHE41
        HIF-1-alpha transcription factor network

    1 Reactome Pathway for BHLHE41
        BMAL1:CLOCK,NPAS2 activates circadian gene expression


    1 Kegg Pathway  (Kegg details for BHLHE41):
        Circadian rhythm


    BHLHE41 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including BHLHE41: 
              Circadian Rhythms in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BHLHE41

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for BHLHE41 (Q9C0J93 ENSP000002427284) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYOD1P151723, ENSP000002500034I2D: score=2 STRING: ENSP00000250003
    SIRT1Q96EB63, ENSP000002120154I2D: score=1 STRING: ENSP00000212015
    BHLHE40O145033, ENSP000002564954I2D: score=1 STRING: ENSP00000256495
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    CEBPBP176763, ENSP000003054224I2D: score=2 STRING: ENSP00000305422
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA14672706
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter ----
    GO:0007623circadian rhythm ----
    GO:0008283cell proliferation NAS11162494

    BHLHE41 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BHLHE41 (BHE41)

    1 Novoseek inferred chemical compound relationship for BHLHE41 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 34.5 8 18233956 (4), 17342330 (1)



    BHLHE41 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BHLHE41 gene: 
    NM_030762.2  

    Unigene Cluster for BHLHE41:

    Basic helix-loop-helix family, member e41
    Hs.177841  [show with all ESTs]
    Unigene Representative Sequence: NM_030762
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000242728(uc001rhb.3) ENST00000394326 ENST00000541271
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BHLHE41 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BHLHE41 (see all 114):
    hsa-miR-100* hsa-miR-15a hsa-miR-106a hsa-miR-128 hsa-miR-4305 hsa-miR-519a hsa-miR-342-3p hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidBHLHE41 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BHLHE41
    Predesigned siRNA for gene silencing in human, mouse, rat BHLHE41
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    GenScript: all cDNA clones in your preferred vector: BHLHE41 (NM_030762)
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    OriGene qPCR primer pairs and template standards for BHLHE41
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BHLHE41
      QuantiTect SYBR Green Assays in human, mouse, rat BHLHE41
      QuantiFast Probe-based Assays in human, mouse, rat BHLHE41

    Additional mRNA sequence: 

    AB044088.1 AJ270695.1 AK094422.1 AK303677.1 AK311258.1 AY665466.1 AY665467.1 BC025968.1 

    9 DOTS entries:

    DT.99952715  DT.75158325  DT.453922  DT.214099  DT.95164151  DT.95164148  DT.121206005  DT.95164150 
    DT.91996871 

    Selected AceView cDNA sequences (see all 169):

    AA709437 CA414694 CK430796 N45639 BM670254 AW136718 BG929136 AA487800 
    AK094422 AI022846 N50868 AA594434 AA296750 AI028096 AI222179 W37595 
    AI978761 BQ002547 AI460122 AW964159 CD679549 AA828321 BC025968 AA713508 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BHLHE41 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATTTTTGT
    BHLHE41 Expression
    About this image


    BHLHE41 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Veins
     
     Eye (Sensory Organs)
             Retina
     
     Thyroid (Endocrine System)
    BHLHE41 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BHLHE41 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.177841

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

        Pathway & Disease-focused RT2 Profiler PCR Array including BHLHE41: 
              Circadian Rhythms in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat BHLHE41
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE41

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BHLHE41 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bhlhe415 basic helix-loop-helix family, member e41   --   6 (77.70 cM) 145858243 
    lizard
    (Anolis carolinensis)
    Reptilia BHLHE416
    basic helix-loop-helix family, member e41
    61(a)
    1 ↔ 1
    GL343349.1(1155153-1165731)
    zebrafish
    (Danio rerio)
    Actinopterygii bhlhe416
    basic helix-loop-helix family, member e41
    51(a)
    1 ↔ 1
    18(15785020-15789333) ENSDARG00000041691


    ENSEMBL Gene Tree for BHLHE41 (if available)
    TreeFam Gene Tree for BHLHE41 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BHLHE41 gene
    BHLHE402  
    3 SIMAP similar genes for BHLHE41 using alignment to 2 protein entries:     BHE41_HUMAN (see all proteins):
    BHLHB3    BHLHB2    BHLHE40

    BHLHE41 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BHLHE41
    PGOHUM00000262871


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for BHLHE41 (see all 135)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1889962651,2
    --26272509(+) CTCCTC/TCTGGC 1 -- int10--------
    rs1469213831,2
    C--26272534(+) ACTTGA/CAGTTC 1 -- int10--------
    rs1924893341,2
    --26272658(+) AGCTGA/GCAATC 1 -- int10--------
    rs1820499201,2
    --26272667(+) TCCTTA/CACTGT 1 -- int10--------
    rs108426781,2
    C,F,A,H--26272824(+) ATCTAG/TTTATA 1 -- int122Minor allele frequency- T:0.49NS EA NA WA 2699
    rs1494643631,2
    C--26273015(+) AGCAGA/GTAGAC 1 -- ut310--------
    rs10481551,2
    C,F,A,H--26273088(-) TTACAG/CCTTTT 1 -- ut31 ese395Minor allele frequency- C:0.43EA NS MN NA PA EU CA WA 6152
    rs762689171,2
    C,F--26273317(+) TTTATC/TGTCAC 1 -- ut311Minor allele frequency- T:0.04NA 120
    rs1431823721,2
    C--26273407(+) GTACCA/CAGCAT 1 -- ut310--------
    rs1482842311,2
    --26273687(+) AGACTA/GTTGTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BHLHE41 (26272959 - 26278060 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BHLHE41:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1396n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): BHLHE41
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BHLHE41
    DNA2.0 Custom Variant and Variant Library Synthesis for BHLHE41

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606200   
    OMIM disorders: 612975  
    14 diseases for BHLHE41:    
    About MalaCards
    bipolar i disorder    schizoaffective disorder    lung adenocarcinoma    mood disorder
    oral cancer    hypoxia    bipolar disorder    endometrial carcinoma
    schizophrenia    lung cancer    adenocarcinoma    endotheliitis
    melanoma    breast cancer


    BHLHE41 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for BHLHE41 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 7.86 2 17342330 (1), 20236182 (1)
    carcinoma 1.98 1 12624110 (1)

    Genetic Association Database (GAD): BHLHE41
    Human Genome Epidemiology (HuGE) Navigator: BHLHE41 (0 documents)

    Export disorders for BHLHE41 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BHLHE41 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with BHLHE41)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of DEC2, a new member of basic helix-loop-helix proteins. (PubMed id 11162494)1, 2, 3, 9 Fujimoto K.... Kato Y. (Biochem. Biophys. Res. Commun. 2001)
    2. The transcriptional repressor DEC2 regulates sleep length in mammals. (PubMed id 19679812)1, 2 He Y.... Fu Y.H. (Science 2009)
    3. Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia. (PubMed id 19839995)1, 4 Mansour H.A....Nimgaonkar V.L. (Bipolar Disord 2009)
    4. Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PubMed id 18557763)1, 3 Stevens J.D....Skinner M.K. ( research in biological diversity 2008)
    5. The basic helix-loop-helix protein, SHARP-1, represses transcription by a histone deacetylase-dependent and histone deacetylase-independent mechanism. (PubMed id 11278948)1, 2 Garriga-Canut M.... Buckley N.J. (J. Biol. Chem. 2001)
    6. DEC1 negatively regulates the expression of DEC2 through binding to the E-box in the proximal promoter. (PubMed id 12624110)1, 9 Li Y....Yan B. (J. Biol. Chem. 2003)
    7. Identification of functional hypoxia response elements in the promoter region of the DEC1 and DEC2 genes. (PubMed id 12354771)1, 9 Miyazaki K....Kato Y. (J. Biol. Chem. 2002)
    8. Human mismatch repair gene, MLH1, is transcriptionally repressed by the hypoxia-inducible transcription factors, DEC1 and DEC2. (PubMed id 18345027)1, 9 Nakamura H....Nishiyama M. (Oncogene 2008)
    9. Functional analysis of the basic helix-loop-helix transcription factor DEC1 in circadian regulation. Interaction with BMAL1. (PubMed id 15560782)1, 9 Sato F....Kato Y. (Eur. J. Biochem. 2004)
    10. Sumoylation of the basic helix-loop-helix transcription factor sharp-1 regulates recruitment of the histone methyltransferase G9a and function in myogenesis. (PubMed id 23637228)1 Wang Y....Taneja R. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79365 HGNC: 16617 AceView: BHLHB3 Ensembl:ENSG00000123095 euGenes: HUgn79365
    ECgene: BHLHE41 Kegg: 79365 H-InvDB: BHLHE41

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BHLHE41 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BHLHE41 gene:
    Search GeneIP for patents involving BHLHE41

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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