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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BHLHE40 Gene

protein-coding   GIFtS: 58
GCID: GC03P004997

Basic Helix-Loop-Helix Family, Member E40

(Previous names: basic helix-loop-helix domain containing, class B, 2)
(Previous symbols: STRA13, BHLHB2)
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BHLHE40 Gene:
This gene encodes a basic helix-loop-helix protein expressed in various tissues. Expression in the chondrocytes is
responsive to the addition of Bt2cAMP. The encoded protein is believed to be involved in the control of cell
differentiation. (provided by RefSeq, Aug 2008)

GeneCards Summary for BHLHE40 Gene: 
BHLHE40 (basic helix-loop-helix family, member e40) is a protein-coding gene. Diseases associated with BHLHE40 include pancreatic ductal adenocarcinoma, and mood disorder, and among its related super-pathways are Circadian Clock. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BHLHE40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus
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:

  • UniProtKB: Ubiquitinated; which may lead to proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14503

  • BHLHE40 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BHLHE40 Protein Expression
    REFSEQ proteins: NP_003661.1  
    ENSEMBL proteins: 
     ENSP00000256495  
    Reactome Protein details: O14503
    Human Recombinant Protein Products for BHLHE40: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    BHLHE40 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    BHLHE40 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/15 molecular function terms (GO ID links to tree view) (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 ----
         
    BHLHE40 for ontologies           About GeneDecksing


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

    BHLHE40 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BHLHE40 
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    SwitchGear 3'UTR luciferase reporter plasmidBHLHE40 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BHLHE40 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Circadian Clock
    Circadian Clock0.40
    Circadian rhythm0.35
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression0.40
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    3Heart Development
    Heart Development
    4HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network
    5HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2        Reactome Pathways for BHLHE40
        Circadian Clock
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression


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


    BHLHE40 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BHLHE40

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

    5/32 Interacting proteins for BHLHE40 (O145031, 2, 3 ENSP000002564954) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-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): 5/9 biological process terms (GO ID links to tree view) (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-dependent NAS9240428
    GO:0006366transcription from RNA polymerase II promoter IDA12397359
    GO:0007623circadian rhythm ----
    GO:0009416response to light stimulus ----

    BHLHE40 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BHLHE40 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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)

    Search CenterWatch for drugs/clinical trials and news about BHLHE40 / BHE40

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BHLHE40 gene: 
    NM_003670.2  

    Unigene Cluster for BHLHE40:

    Basic helix-loop-helix family, member e40
    Hs.744856  [show with all ESTs]
    Unigene Representative Sequence: NM_003670
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256495(uc003bqf.3 uc011asw.2) ENST00000467610 ENST00000460806

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    Additional mRNA sequence: 

    AB004066.1 AK312509.1 BC068292.1 BC082238.1 CR456921.1 

    18 DOTS entries:

    DT.65285476  DT.100890828  DT.95329147  DT.120923168  DT.92449152  DT.100890878  DT.100799601  DT.100032845 
    DT.100890865  DT.319007  DT.319012  DT.95354614  DT.100890834  DT.100890825  DT.100890848  DT.120923112 
    DT.97858669  DT.95297453 

    24/360 AceView cDNA sequences (see all 360):

    BM476237 CR610415 AL602359 AI492590 AL047651 AI494038 BM977619 AI384049 
    AA938441 CA394428 CA393585 AI288346 AW169854 BU183234 BP357872 AW338921 
    AI624763 CA394574 AL703091 AI811452 CR456921 AA632164 AW071011 BM703335 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BHLHE40 expression in normal human tissues (normalized intensities)      BHLHE40 embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H7 (WA07)
     
     Uterus (Reproductive System)
             cervix   

    See BHLHE40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BHLHE40

    SOURCE GeneReport for Unigene cluster: Hs.744856

    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

        SABiosciences Expression via Pathway-Focused 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

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BHLHE40 gene from 4/10 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  XM_414439.2  XP_414439.1 
    lizard
    (Anolis carolinensis)
    Reptilia BHLHE406
    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)
    About This Section
    Paralogs for BHLHE40 gene
    BHLHE412  
    2 SIMAP similar genes for BHLHE40 using alignment to 1 protein entry:     BHE40_HUMAN:
    BHLHB2    BHLHE41

    BHLHE40 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/231 SNPs in BHLHE40 are shown (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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604256    OMIM disorders: --

    18 diseases for BHLHE40:    About MalaCards
    pancreatic ductal adenocarcinoma    mood disorder    hypoxia    keratoconus
    bipolar disorder    burkitt's lymphoma    endometrial carcinoma    pancreatitis
    pancreatic cancer    gastric cancer    adenocarcinoma    breast cancer
    hepatocellular carcinoma    lung cancer    colorectal cancer    endotheliitis
    hepatitis    neuronitis


    BHLHE40 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for BHLHE40 gene, integrated from 9 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. (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. (2001)
    3. PER2 variantion is associated with depression vulnera bility. (PubMed id 19693801)1, 4 Lavebratt C....Forsell Y. (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. (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. (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. (2001)
    7. Assignment1 of the human Stra13 gene (STRA13) to chro mosome 3p26 by in situ hybridization. (PubMed id 10449910)1, 3 Antonevich T. and Taneja R. (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. (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. (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. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8553 HGNC: 1046 AceView: BHLHB2 Ensembl:ENSG00000134107 euGenes: HUgn8553
    ECgene: BHLHE40 Kegg: 8553 H-InvDB: BHLHE40

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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