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BHLHE40 Gene

protein-coding   GIFtS: 55
GCID: GC03P004997

Basic Helix-Loop-Helix Family, Member E40

(Previous names: basic helix-loop-helix domain containing, class B, 2)
(Previous symbols: STRA13, BHLHB2)
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(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 E401 2     SHARP-22 3
STRA131 2 3 5     HLHB22 5
BHLHB21 2 3      Differentiated Embryo Chondrocyte Expressed Gene 11
DEC12 3 5     Stra142
Basic Helix-Loop-Helix Domain Containing, Class B, 21 2     Class E Basic Helix-Loop-Helix Protein 402
Differentially Expressed In Chondrocytes 11 2     Differentiated Embryo Chondrocyte Expressed Gene 12
Class B Basic Helix-Loop-Helix Protein 22 3     SHARP23
Differentially Expressed In Chondrocytes Protein 12 3     bHLHb23
Enhancer-Of-Split And Hairy-Related Protein 22 3     bHLHe403
Stimulated By Retinoic Acid Gene 13 Protein2 3     

External Ids:    HGNC: 10461   Entrez Gene: 85532   Ensembl: ENSG000001341077   OMIM: 6042565   UniProtKB: O145033   

Export aliases for BHLHE40 gene to outside databases


(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 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. 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 BHLHE41.

UniProtKB/Swiss-Prot: BHE40_HUMAN, O14503
Function: May function as a transcriptional factor to modulate chondrogenesis in response to the cAMP pathway

Gene Wiki entry for BHLHE40 (BHLHB2) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the BHLHE40 gene promoter:
         Max1   p53   AP-1   SREBP-1c   p300   ATF-2   SREBP-1b   SREBP-1a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBHLHE40 promoter sequence
   Search Chromatin IP Primers for BHLHE40

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BHLHE40


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

Entrez Gene cytogenetic band: 3p26   Ensembl cytogenetic band:  3p26.1   HGNC cytogenetic band: 3p26

BHLHE40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BHLHE40 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P004997:  view genomic region     (about GC identifiers)

Start:
5,020,801 bp from pter      End:
5,027,008 bp from pter
Size:
6,208 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BHE40_HUMAN, O14503 (See protein sequence)
Recommended Name: Class E basic helix-loop-helix protein 40  
Size: 412 amino acids; 45510 Da
Subunit: Able to homodimerize or heterodimerize with TCF3/E47. Interacts with ubiquitin-conjugating enzyme
UBE2I/UBC9
Secondary accessions: Q96TD3

Explore the universe of human proteins at neXtProt for BHLHE40: NX_O14503

Explore proteomics data for BHLHE40 at MOPED

Post-translational modifications: 

  • Ubiquitinated; which may lead to proteasomal degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BHLHE40 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003661.1  
    ENSEMBL proteins: 
     ENSP00000256495  
    Reactome Protein details: O14503

    BHLHE40 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for BHLHE40 

     
    antibodies-online proteins for BHLHE40 (9 products) 

     
    antibodies-online peptides for BHLHE40

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    antibodies-online kits for BHLHE40 (17 products) 


    (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 O14503

    ProtoNet protein and cluster: O14503

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


    UniProtKB/Swiss-Prot: BHE40_HUMAN, O14503
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    Find genes that share domains with BHLHE40           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BHE40_HUMAN, O14503
    Function: May function as a transcriptional factor to modulate chondrogenesis in response to the cAMP pathway

         Gene Ontology (GO): Selected molecular function terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000981sequence-specific DNA binding RNA polymerase II transcription factor activity IDA12397359
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IDA12624110
    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 IDA12397359
    GO:0003677DNA binding ----
         
    Find genes that share ontologies with BHLHE40           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Bhlhe40):
     behavior/neurological  hematopoietic system  immune system  nervous system  no phenotypic analysis 
     renal/urinary system 

    Find genes that share phenotypes with BHLHE40           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BHLHE40: Bhlhe40tm1Tan Bhlhe40tm1.1Rhli

       genOway: Develop your customized and physiologically relevant rodent model for BHLHE40

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  KCACGTGMCN 

    miRNA
    Products:
        
    miRTarBase miRNAs that target BHLHE40:
    hsa-mir-941 (MIRT036578), hsa-mir-454-3p (MIRT039240), hsa-mir-335-5p (MIRT018020)

    Block miRNA regulation of human, mouse, rat BHLHE40 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BHLHE40 (see all 48):
    hsa-miR-100* hsa-miR-376b hsa-miR-300 hsa-miR-330-5p hsa-miR-548k hsa-miR-200a hsa-miR-374a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidBHLHE40 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BHLHE40
    Predesigned siRNA for gene silencing in human, mouse, rat BHLHE40

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BHLHE40

    Clone
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    OriGene clones in human, mouse for BHLHE40 (see all 5)
    OriGene ORF clones in mouse, rat for BHLHE40
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BHLHE40 (NM_003670)
    Sino Biological Human cDNA Clone for BHLHE40
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BHLHE40
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BHLHE40

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE40


    (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
    BHE40_HUMAN, O14503: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9240428
    GO:0005730nucleolus IDA--
    GO:0005794Golgi apparatus IDA--

    Find genes that share ontologies with BHLHE40           About GenesLikeMe


    (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 BHLHE40 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    2Circadian rhythm
    Circadian rhythm0.31
    3SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    4HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network
    5HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network


    Find genes that share SuperPaths with BHLHE40           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for BHLHE40
        Circadian Clock in Mammals

    5 BioSystems Pathways for BHLHE40
        Heart Development
    SIDS Susceptibility Pathways
    Circadian rhythm pathway
    HIF-2-alpha transcription factor network
    HIF-1-alpha transcription factor network


    1 Reactome Pathway for BHLHE40
        BMAL1:CLOCK,NPAS2 activates circadian gene expression


    1 Kegg Pathway  (Kegg details for BHLHE40):
        Circadian rhythm

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BHLHE40: 
              TGFB Signaling Targets in human mouse rat
              Circadian Rhythms in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BHLHE40

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BHLHE40 (O145031, 2, 3 ENSP000002564954) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046371, 2, 3, ENSP000002693054EBI-711810,EBI-366083 MINT-4544983 MINT-4544966 MINT-4545030 MINT-4654062 MINT-4545046 I2D: score=1 STRING: ENSP00000269305
    UBE2IP632791, 3, ENSP000003248974EBI-711810,EBI-80168 I2D: score=2 STRING: ENSP00000324897
    MDM2Q009872, 3, ENSP000004172814MINT-4544999 I2D: score=1 STRING: ENSP00000417281
    BRD7Q9NPI12, 3MINT-63052 I2D: score=5 
    CHD3Q128732, 3MINT-63054 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA12397359
    GO:0006355regulation of transcription, DNA-templated NAS9240428
    GO:0006366transcription from RNA polymerase II promoter ISS--
    GO:0007623circadian rhythm ----
    GO:0009416response to light stimulus ----

    Find genes that share ontologies with BHLHE40           About GenesLikeMe



    (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 BHLHE40 (BHE40)

    1 HMDB Compound for BHLHE40    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    3 Novoseek inferred chemical compound relationships for BHLHE40 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 38.7 2 12594185 (2)
    vegf 18.6 3 12754744 (1), 18233956 (1), 17342330 (1)
    forskolin 18.4 3 11432722 (2), 12594185 (1)



    Find genes that share compounds with BHLHE40           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BHLHE40 gene: 
    NM_003670.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256495(uc003bqf.3 uc011asw.2) ENST00000467610 ENST00000460806

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BHLHE40 (see all 48):
    hsa-miR-100* hsa-miR-376b hsa-miR-300 hsa-miR-330-5p hsa-miR-548k hsa-miR-200a hsa-miR-374a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidBHLHE40 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat BHLHE40
      QuantiFast Probe-based Assays in human, mouse, rat BHLHE40

    Selected AceView cDNA sequences (see all 360):

    AA026120 CA394574 BM803207 BM703335 AI492590 AI081906 BU183234 AL602359 
    BM977619 CR456921 CK820241 CK820242 AI865310 BP357872 AA938441 AW169854 
    AA459382 BM477781 CA442935 AA927362 AI584136 BM476237 AW071011 AI384049 

    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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    BHLHE40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGGTAGC
    BHLHE40 Expression
    About this image


    BHLHE40 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Cartilage (Muscoskeletal System)
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (Naive)
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
    BHLHE40 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BHLHE40 Protein Expression

    UniProtKB/Swiss-Prot: BHE40_HUMAN, O14503
    Tissue specificity: Expressed in cartilage, spleen, intestine, lung, and to a lesser extent in heart, brain,
    liver, muscle and stomach

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BHLHE40: 
              TGFB Signaling Targets in human mouse rat
              Circadian Rhythms in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BHLHE40
    OriGene qSTAR qPCR primer pairs in human, mouse for BHLHE40
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BHLHE40
    QuantiTect SYBR Green Assays in human, mouse, rat BHLHE40
    QuantiFast Probe-based Assays in human, mouse, rat BHLHE40
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHLHE40

    (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 BHLHE40 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bhlhe401 , 5 basic helix-loop-helix family, member e401, 5 87.92(n)1
    90.51(a)1
      6 (49.85 cM)5
    208931  NM_011498.41  NP_035628.11 
     1086606295 
    chicken
    (Gallus gallus)
    Aves BHLHE401 basic helix-loop-helix family, member e40 72.33(n)
    73.75(a)
      416108  NM_001277144.1  NP_001264073.1 
    lizard
    (Anolis carolinensis)
    Reptilia BHLHB26
    Uncharacterized protein
    70(a)
    1 ↔ 1
    2(173033011-173042638)
    zebrafish
    (Danio rerio)
    Actinopterygii wufm54h072 wufm54h07 75.86(n)   335746  CD284443.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BHLHE40 gene
    BHLHE412  
    2 SIMAP similar genes for BHLHE40 using alignment to 1 protein entry:     BHE40_HUMAN:
    BHLHB2    BHLHE41

    Find genes that share paralogs with BHLHE40           About GenesLikeMe



    (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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    Selected SNPs for BHLHE40 (see all 231)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1161296661,2
    F--5019137(+) TTCGCC/GCAGTC 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs731060611,2
    C,F--5019140(+) GCCCAG/ATCTCG 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs1482882671,2
    --5019182(+) CACAGC/GCAGGT 1 -- us2k10--------
    rs38066761,2
    C,F--5019442(-) CACCTC/TCCCCG 1 -- us2k11Minor allele frequency- T:0.05EA 120
    rs1932174751,2
    --5019453(+) GGTGGC/GGCCCT 1 -- us2k10--------
    rs1467290131,2
    C--5019544(+) CTTCT-/CCCCCG 1 -- us2k10--------
    rs1855828971,2
    --5019546(+) TCTCCC/GCCGCT 1 -- us2k10--------
    rs8678931,2
    C,F,A--5019579(+) ACAATG/TAAATT 1 -- us2k19Minor allele frequency- T:0.24NA WA CSA EA 370
    rs1404999611,2
    --5019607(+) CAACAA/CAAGTT 1 -- us2k10--------
    rs22494361,2
    C,H--5019764(+) CCTAGC/TGCAGA 1 -- us2k111Minor allele frequency- T:0.13NA WA CSA EA 373

    HapMap Linkage Disequilibrium report for BHLHE40 (5020801 - 5027008 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BHLHE40:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834606CNV Loss17160897
    nsv876471CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing BHLHE40
    DNA2.0 Custom Variant and Variant Library Synthesis for BHLHE40

    (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: 604256    OMIM disorders: --


    Find genes that share disorders with BHLHE40           About GenesLikeMe

    7 Novoseek inferred disease relationships for BHLHE40 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon carcinoma 26.8 2 12624110 (1), 12119049 (1)
    tumors 8.58 5 16462771 (1), 19624270 (1), 17376295 (1), 20236182 (1)
    carcinoma 6.79 5 15328513 (2), 12624110 (1), 11432722 (1)
    breast cancer 0 5 15328513 (2), 20236182 (2)
    colorectal cancer 0 1 17611704 (1)
    melanoma 0 1 11432722 (1)
    cancer 0 3 18345027 (1), 19624270 (1), 15221940 (1)

    Genetic Association Database (GAD): BHLHE40
    Human Genome Epidemiology (HuGE) Navigator: BHLHE40 (0 documents)

    Export disorders for BHLHE40 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 BHLHE40 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with BHLHE40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of the novel basic helix-loop-helix protein DEC1 expressed in differentiated human embryo chondrocytes. (PubMed id 9240428)1, 2, 3, 9 Shen M.... Kato Y. (Biochem. Biophys. Res. Commun. 1997)
    2. Gene structure and chromosomal location of a human bHLH transcriptional factor DEC1 x Stra13 x SHARP-2/BHLHB2. (PubMed id 11226878)1, 2, 9 Teramoto M.... Kato Y. (J. Biochem. 2001)
    3. PER2 variantion is associated with depression vulnerability. (PubMed id 19693801)1, 4 Lavebratt C....Forsell Y. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    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 status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Regulation of STRA13 by the von Hippel-Lindau tumor suppressor protein, hypoxia, and the UBC9/ubiquitin proteasome degradation pathway. (PubMed id 11278694)1, 2 Ivanova A.V.... Lerman M.I. (J. Biol. Chem. 2001)
    7. Assignment1 of the human Stra13 gene (STRA13) to chromosome 3p26 by in situ hybridization. (PubMed id 10449910)1, 3 Antonevich T. and Taneja R. (Cytogenet. Cell Genet. 1999)
    8. DEC1, a basic helix-loop-helix transcription factor and a novel target gene of the p53 family, mediates p53-dependent premature senescence. (PubMed id 18025081)1, 9 Qian Y....Chen X. (J. Biol. Chem. 2008)
    9. The expression of antiapoptotic protein survivin is transcriptionally upregulated by DEC1 primarily through multiple sp1 binding sites in the proximal promoter. (PubMed id 16462771)1, 9 Li Y....Yan B. (Oncogene 2006)
    10. 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)

    (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: 8553 HGNC: 1046 AceView: BHLHB2 Ensembl:ENSG00000134107 euGenes: HUgn8553
    ECgene: BHLHE40 Kegg: 8553 H-InvDB: BHLHE40

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for BHLHE40 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 BHLHE40 gene:
    Search GeneIP for patents involving BHLHE40

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



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