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

HES7 Gene

protein-coding   GIFtS: 51
GCID: GC17M008060

hairy and enhancer of split 7 (Drosophila)

 Explore 7 diseases affiliated with
HES7 via our new
 Human Malady Compendium 
Biological research products
for HES7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hairy And Enhancer Of Split 7 (Drosophila)1 2     SCDO42 5
BHLHb371     Transcription Factor HES-72
Class B Basic Helix-Loop-Helix Protein 372 3     BHLHB373
BHLH Factor Hes72 3     Hairy And Enhancer Of Split 73
HHes71     

External Ids:    HGNC: 159771   Entrez Gene: 846672   Ensembl: ENSG000001791117   OMIM: 6080595   UniProtKB: Q9BYE03   

Export aliases for HES7 gene to outside databases

Previous GC identifers: GC17P008428 GC17M009113 GC17M007966 GC17M008226 GC17M008227 GC17M007965 GC17M008030 GC17M007919 GC17M008046 GC17M008051 GC17M008056


(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 HES7:
This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog
of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated
in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal
dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by
RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: HES7_HUMAN, Q9BYE0
Function: Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with
HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock,
which is essential for coordinated somite segmentation (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HES7 gene promoter:
         Nkx3-1 v2   Nkx3-1   Nkx3-1 v4   Nkx3-1 v3   Nkx3-1 v1   Tal-1beta   LCR-F1   GATA-1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHES7 promoter sequence
   Search SABiosciences Chromatin IP Primers for HES7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HES7


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

HES7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HES7 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M008060:  view genomic region     (about GC identifiers)

Start:
8,023,908 bp from pter      End:
8,027,410 bp from pter
Size:
3,503 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HES7_HUMAN, Q9BYE0 (See protein sequence)
Recommended Name: Transcription factor HES-7  
Size: 225 amino acids; 24899 Da
Subunit: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE family
(By similarity)
Subcellular location: Nucleus (Probable)

Explore the universe of human proteins at neXtProt for HES7: NX_Q9BYE0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BYE0

  • HES7 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159439.1  NP_115969.2  

    ENSEMBL proteins: 
     ENSP00000446205   ENSP00000314774   ENSP00000462491  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HES7

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11260262


    HES7 for ontologies           About GeneDecksing



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

    HES7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003650 Orange
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9BYE0

    ProtoNet protein and cluster: Q9BYE0

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


    UniProtKB/Swiss-Prot: HES7_HUMAN, Q9BYE0
    Domain: Has a particular type of basic domain which includes a helix-interrupting proline
    Domain: The C-terminal WRPW motif is a transcriptional repression motif which is necessary for interaction with
    Groucho/TLE family members, transcriptional corepressors recruited to specific target DNA by Hairy-related proteins
    (By similarity)
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain
    Similarity: Contains 1 Orange domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HES7_HUMAN, Q9BYE0
    Function: Transcriptional repressor. Represses transcription from both N box- and E box-containing promoters. May with
    HES1, cooperatively regulate somite formation in the presomitic mesoderm (PSM). May function as a segmentation clock,
    which is essential for coordinated somite segmentation (By similarity)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HES7
    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate HES7 (see all 22):
    hsa-miR-4265 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-331-3p hsa-miR-346 hsa-miR-23b* hsa-miR-4309 hsa-miR-100
    SwitchGear 3'UTR luciferase reporter plasmidHES7 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS11260262
    GO:0008134transcription factor binding NAS17611704
    GO:0046983protein dimerization activity IEA--


    HES7 for ontologies           About GeneDecksing


    Animal Models:
         5 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Hes7):
     embryogenesis  growth/size  limbs/digits/tail  mortality/aging  skeleton 

    HES7 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HES7

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HES7 (ENSP000003147744) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ----
    GO:0001501skeletal system development ----
    GO:0001756somitogenesis ----
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--


    HES7 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HES7
    Search CenterWatch for drugs/clinical trials and news about HES7 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HES7 gene (2 alternative transcripts): 
    NM_001165967.1  NM_032580.3  

    Unigene Cluster for HES7:

    Hairy and enhancer of split 7 (Drosophila)
    Hs.434828  [show with all ESTs]
    Unigene Representative Sequence: BM808440
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000541682(uc002gkb.2 uc002gkc.3) ENST00000317814 ENST00000577735


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    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate HES7 (see all 22):
    hsa-miR-4265 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-331-3p hsa-miR-346 hsa-miR-23b* hsa-miR-4309 hsa-miR-100
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES7

    Additional cDNA sequence: 

    AB049064.1 BC039887.1 

    1 DOTS entry:

    DT.100020691 

    13 AceView cDNA sequences:

    BF058233 BU620502 NR_000038 BI259590 BI335370 BC039887 AB049064 NM_032580 
    BU629441 CA432402 BU633860 CA432404 BQ930883 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HES7    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c
    SP1:                    -               
    SP2:                                    


    ECgene alternative splicing isoforms for HES7

    (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

    HES7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATAAAGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    HES7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Paraxial MesodermParaxial MesodermParaxial Mesoderm CellsMesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HES7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HES7

    SOURCE GeneReport for Unigene cluster: Hs.434828
        SABiosciences Expression via Pathway-Focused PCR Array including HES7: 
              Notch Signaling Targets in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES7

    (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 HES7 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia HES76
    --
    26(a)
    1 ↔ 1
    GL343400.1(527690-532338)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983562 bHLH-WRPW transcription factor ESR-5 76.19(n)    AF137072.1 
    zebrafish
    (Danio rerio)
    Actinopterygii her56
    her76
    (see all 4)
    hairy and enhancer of split related-7
    (see all 4)
    25(a)
    25(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    14(31412619-31414295)
    5(71711885-71713200)


    ENSEMBL Gene Tree for HES7 (if available)
    TreeFam Gene Tree for HES7 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HES7 gene
    HEYL2  HES42  HES62  HELT2  HEY22  HES32  HEY12  HES52  
    HES22  HES12  

    HES7 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/19 NCBI SNPs in HES7 are shown (see all 19    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs620630671,2
    --7920070(+) GGCTTC/G/TGGCCG 6 P syn11NA 2
    rs2008330341,2
    --8025162(+) TCTACC/TGGCTT 4 P syn10--------
    rs560660451,2
    C,--8025180(+) GGCGGT/CTTGGG 4 /K syn14Minor allele frequency- C:0.19NA WA EA 360
    rs13483251,2
    C,F,A,H,--8025712(-) AGATAT/CTGGAG 4 /L syn123Minor allele frequency- C:0.19EA NA NS CSA WA EU 2336
    rs1168582361,2
    F,--8025979(+) CAACGC/AGTGAG 2 -- int11Minor allele frequency- A:0.03NA 120
    rs9685701,2
    C,H,--8026078(-) GTCCGC/GTTCCC 2 -- int114Minor allele frequency- G:0.02MN NA WA CSA EA 445
    rs1495272681,2
    --8026124(+) GGGAGC/TGAAAT 2 -- int10--------
    rs1902016731,2
    --8026188(+) GTTCTA/GAGAGC 2 -- int10--------
    rs1460099691,2
    --8026267(+) AACCAA/CGCTTG 2 -- int10--------
    rs1399069851,2
    --8026279(+) GTCCCC/GACCCC 2 -- int10--------

    HapMap Linkage Disequilibrium report for HES7 (8023908 - 8027410 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HES7
         1 CNV: 4988
    Human Gene Mutation Database (HGMD): HES7

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HES7
    DNA2.0 Custom Variant and Variant Library Synthesis for HES7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HES7 for disorders           About GeneDecksing

    OMIM gene information: 608059   
    OMIM disorders: 613686  
    UniProtKB/Swiss-Prot: HES7_HUMAN, Q9BYE0
  • Defects in HES7 are the cause of spondylocostal dysostosis type 4 (SCDO4) [MIM:613686]. A rare condition of
  • variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral
    fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations

    7 diseases for HES7:    About MalaCards
    spondylocostal dysostosis    dysostosis    spondylocostal dysostosis, autosomal recessive    spondylocostal dysostosis 4
    dwarfism    meningioma    leukemia

    1 disease from the University of Copenhagen DISEASES database for HES7:
    Spondylocostal dysostosis
    GeneTests: HES7
    Spondylocostal Dysostosis, Autosomal Recessive

    Human Genome Epidemiology (HuGE) Navigator: HES7 (7 documents)

    Export disorders for HES7 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 HES7 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with HES7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm. (PubMed id 11260262)1, 2, 3 Bessho Y.... Kageyama R. (2001)
    2. Two novel missense mutations in HAIRY-AND-ENHANCER-OF -SPLIT-7 in a family with spondylocostal dysostosis. (PubMed id 20087400)1, 2 Sparrow D.B....Dunwoodie S.L. (2010)
    3. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (PubMed id 18775957)1, 2 Sparrow D.B....Dunwoodie S.L. (2008)
    4. Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis. (PubMed id 22744456)1 Qiu X.S....Qiu Y. (2012)
    5. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    6. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1 Han S....Kang D. (2010)
    7. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1 Rajaraman P....Inskip P.D. (2010)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1 Bailey S.D....Anand S. (2010)
    9. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    10. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84667 HGNC: 15977 AceView: HES7 Ensembl:ENSG00000179111 euGenes: HUgn84667
    ECgene: HES7 H-InvDB: HES7

    (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 HES7 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 HES7 gene:
    Search GeneIP for patents involving HES7

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



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