Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

HES7 Gene

protein-coding   GIFtS: 53
GCID: GC17M008060

Hairy And Enhancer Of Split 7 (Drosophila)

  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
Hairy And Enhancer Of Split 7 (Drosophila)1 2     SCDO42 5
BHLH Factor Hes71 2 3     Transcription Factor HES-72
Class B Basic Helix-Loop-Helix Protein 372 3     BHLHB373
bHLHb372 3     Hairy And Enhancer Of Split 73
hHes72 3     

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 Gene:
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)

GeneCards Summary for HES7 Gene: 
HES7 (hairy and enhancer of split 7 (Drosophila)) is a protein-coding gene. Diseases associated with HES7 include spondylocostal dysostosis, and hes7-related spondylocostal dysostosis, autosomal recessive. GO annotations related to this gene include protein dimerization activity and transcription factor binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  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 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: 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)
Secondary accessions: F8VPC9
Alternative splicing: 2 isoforms:  Q9BYE0-1   Q9BYE0-2   

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

Explore proteomics data for HES7 at MOPED 

Post-translational modifications:

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

  • HES7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HES7 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159439.1  NP_115969.2  

    ENSEMBL proteins: 
     ENSP00000446205   ENSP00000314774   ENSP00000462491  

    Human Recombinant Protein Products for HES7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for HES7
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for HES7
    GenScript Custom Purified and Recombinant Proteins Services for HES7
    Novus Biologicals HES7 Protein
    Novus Biologicals HES7 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for HES7
    Cloud-Clone Corp. 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



    HES7 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for HES7
    GenScript Custom Superior Antibodies Services for HES7
    Abcam antibodies for HES7
    Cloud-Clone Corp. Antibodies for HES7 
    ThermoFisher Antibodies for HES7
    LSBio Antibodies in human, mouse, rat for HES7 

    Assay Products for HES7: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for HES7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HES7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HES7 
    Cloud-Clone Corp. CLIAs for HES7


    (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

    2 InterPro protein domains:
     IPR003650 Orange
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9BYE0

    ProtoNet protein and cluster: Q9BYE0

    2 Blocks protein domains:
    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


    HES7 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: 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)

         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


    Phenotypes:
         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HES7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HES7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HES7 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HES7 

    miRNA
    Products:
        
    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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HES7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HES7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HES7
    Sirion Biotech Customized adenovirus for overexpression of HES7

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HES7 (see all 9)
    OriGene ORF clones in mouse, rat for HES7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HES7 (NM_032580)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HES7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES7
    Sirion Biotech Customized lentivirus for stable overexpression of HES7 
                         Customized lentivirus expression plasmids for stable overexpression of HES7 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for HES7
    Search LifeMap BioReagents cell lines for HES7
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES7


    (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



    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 IEA--
    GO:0001501skeletal system development IEA--
    GO:0001756somitogenesis IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----

    HES7 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
    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 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 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

    miRNA
    Products:
         
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HES7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HES7
    Clone
    Products:
         
    OriGene clones in human, mouse for HES7 (see all 9)
    OriGene ORF clones in mouse, rat for HES7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HES7 (NM_032580)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HES7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES7
    Sirion Biotech Customized lentivirus for stable overexpression of HES7 
                         Customized lentivirus expression plasmids for stable overexpression of HES7 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for HES7
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HES7
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES7
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES7

    Additional mRNA sequence: 

    AB049064.1 BC039887.1 

    1 DOTS entry:

    DT.100020691 

    13 AceView cDNA sequences:

    BF058233 BU620502 NR_000038 BI259590 BU629441 CA432404 AB049064 BC039887 
    BI335370 NM_032580 CA432402 BU633860 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)      HES7 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATAAAGTG
    HES7 Expression
    About this image


    HES7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             Paraxial Mesoderm Cells Paraxial Mesoderm
     
     Mesoderm (Gastrulation Derivatives)
             Paraxial Mesoderm Cells Paraxial Mesoderm

    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

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for HES7
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HES7
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES7
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES7
    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 animals.

    Orthologs for HES7 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hes71 , 5 hairy and enhancer of split 7 (Drosophila)1, 5 92(n)1
    92(a)1
      11 (42.38 cM)5
    846531  NM_033041.41  NP_149030.21 
     691204045 
    lizard
    (Anolis carolinensis)
    Reptilia HES76
    hairy and enhancer of split 7 (Drosophila)
    28(a)
    1 ↔ 1
    GL343400.1(526157-535117)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983562 bHLH-WRPW transcription factor ESR-5 76.19(n)    AF137072.1 
    zebrafish
    (Danio rerio)
    Actinopterygii her56
    her16
    (see all 3)
    hairy-related 1
    (see all 3)
    25(a)
    19(a)
    (see all 3)
    possible ortholog
    1 ↔ many
    (see all 3)
    14(31412619-31414295)
    5(71693373-71700454)
    fruit fly
    (Drosophila melanogaster)
    Insecta Her6
    HLHmdelta6
    (see all 8)
    E(spl) region transcript mdelta
    (see all 8)
    26(a)
    19(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    X(18098436-18099177)
    3R(21823343-21824355)


    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
      --

    (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

    10/106 SNPs in HES7 are shown (see all 106)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649224
    Spondylocostal dysostosis 4 (SCDO4)4--see VAR_0649222 I V mis40--------
    VAR_0649234
    Spondylocostal dysostosis 4 (SCDO4)4--see VAR_0649232 D Y mis40--------
    VAR_0649214
    Spondylocostal dysostosis 4 (SCDO4)4--see VAR_0649212 R W mis40--------
    rs1414183621,2
    --7919137(+) CCGTTC/TGTCGG 2 -- ut310--------
    rs1870621641,2
    --7919138(+) CGTTCA/GTCGGG 2 -- ut310--------
    rs14428501,2
    C,F,A,H--7919139(+) GTTCGC/TCGGGT 2 -- ut3119Minor allele frequency- T:0.07NS EA NA WA CSA 1543
    rs1906399171,2
    --7919143(+) GTCGGA/GTGGCT 2 -- ut310--------
    rs1508117541,2
    C--7919187(+) GTGACC/GAATAG 2 -- ut310--------
    rs1828855081,2
    --7919189(+) GACGAA/CTAGAG 2 -- ut310--------
    rs1874888201,2
    --7919199(+) GCAATG/TCAAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for HES7 (8023908 - 8027410 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HES7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv457661CNV Loss19166990
    nsv907657CNV Loss21882294
    nsv833352CNV Loss17160897


    Human Gene Mutation Database (HGMD): HES7
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608059   
    OMIM disorders: 613686  
    UniProtKB/Swiss-Prot: HES7_HUMAN, Q9BYE0
  • Spondylocostal dysostosis 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 9 diseases for HES7:    About MalaCards
    spondylocostal dysostosis    hes7-related spondylocostal dysostosis, autosomal recessive    spondylocostal dysostosis 4    dysostosis
    spondylocostal dysostosis, autosomal recessive    dwarfism    scoliosis    meningioma
    leukemia

    1 disease from the University of Copenhagen DISEASES database for HES7:
    Spondylocostal dysostosis

    HES7 for disorders           About GeneDecksing

    GeneTests: HES7
    GeneReviews: HES7
    Genetic Association Database (GAD): HES7
    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 16):
    (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. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    3. 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)
    4. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    5. 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, 4 Bailey S.D....Anand S. (2010)
    6. 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)
    7. Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis. (PubMed id 22744456)1 Qiu X.S....Qiu Y. (2012)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Common variation in genes related to innate immunity and risk of adult glioma. (PubMed id 19423540)1 Rajaraman P....Chanock S.J. (2009)
    10. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)

    (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: 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HES7  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for HES7  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for HES7  
     OriGene qSTAR qPCR primer pairs in human, mouse for HES7   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for HES7   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for HES7   OriGene Custom Protein Services for HES7  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HES7
     QIAGEN SeqTarget long-range PCR primers for resequencing HES7
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HES7
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HES7
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES7
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES7
     GenScript Custom Purified and Recombinant Proteins Services for HES7 GenScript cDNA clones with any tag delivered in your preferred vector for HES7
     GenScript Custom Assay Services for HES7 GenScript Custom Superior Antibodies Services for HES7
     GenScript Custom overexpressing Cell Line Services for HES7 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in HES7 promoter
     Search Chromatin IP Primers for HES7
     RT2 qPCR Primer Assay in human, mouse, rat HES7
     Search GNC Networks for HES7
     SABiosciences PCR Arrays including human, mouse, rat HES7
     Search Tocris compounds for HES7
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     HES7 proteins
     HES7 lysates
     Antibodies for HES7
     See all of Abcam's Antibodies, Kits and Proteins for HES7
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for HES7




     Proteins for HES7
     Antibodies for HES7
     ELISAs for HES7
     CLIAs for HES7
     Search LifeMap BioReagents cell lines for HES7
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES7
     SwitchGear 3'UTR luciferase reporter plasmids for HES7
     SwitchGear Promoter luciferase reporter plasmids for HES7
     ThermoFisher Antibodies for HES7
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HES7
     inGenious Targeting Laboratory - Custom generated mouse model solutions for HES7
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HES7
    Customized:
     lentivirus for stable overexpression of HES7
     lentivirus expression plasmids for stable overexpression of HES7
     adenovirus for overexpression of HES7
     LSBio Antibodies in human, mouse, rat for HES7
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      HES7 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4