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

HES5 Gene

protein-coding   GIFtS: 52
GCID: GC01M002450

Hairy And Enhancer Of Split 5 (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 5 (Drosophila)1 2
Class B Basic Helix-Loop-Helix Protein 382 3
bHLHb382 3
Transcription Factor HES-52
BHLHB383
Hairy And Enhancer Of Split 53

External Ids:    HGNC: 197641   Entrez Gene: 3885852   Ensembl: ENSG000001979217   OMIM: 6073485   UniProtKB: Q5TA893   

Export aliases for HES5 gene to outside databases

Previous GC identifers: GC01U900022 GC01M002495 GC01M001739


(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 HES5 Gene:
This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product
of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple
tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and
cancer. (provided by RefSeq, Dec 2008)

GeneCards Summary for HES5 Gene: 
HES5 (hairy and enhancer of split 5 (Drosophila)) is a protein-coding gene. Diseases associated with HES5 include osteoarthritis, and cervicitis, and among its related super-pathways are Notch signaling pathway and Constitutive Signaling by NOTCH1 PEST Domain Mutants. GO annotations related to this gene include chromatin binding and protein dimerization activity. An important paralog of this gene is HES4.

UniProtKB/Swiss-Prot: HES5_HUMAN, Q5TA89
Function: Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity)

Gene Wiki entry for HES5 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_000001.10  NT_004350.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HES5 gene promoter:
         E2F-3a   E2F   E2F-1   E2F-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHES5 promoter sequence
   Search SABiosciences Chromatin IP Primers for HES5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HES5


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

Entrez Gene cytogenetic band: 1p36.32   Ensembl cytogenetic band:  1p36.32   HGNC cytogenetic band: 1p36

HES5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HES5 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M002450:  view genomic region     (about GC identifiers)

Start:
2,460,184 bp from pter      End:
2,461,684 bp from pter
Size:
1,501 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: HES5_HUMAN, Q5TA89 (See protein sequence)
Recommended Name: Transcription factor HES-5  
Size: 166 amino acids; 18226 Da
Subunit: Transcription repression requires formation of a complex with a corepressor protein of the Groucho/TLE
family (By similarity)
Subcellular location: Nucleus (By similarity)
Secondary accessions: B9DI85

Explore the universe of human proteins at neXtProt for HES5: NX_Q5TA89

Explore proteomics data for HES5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5TA89

  • HES5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HES5 Protein Expression
    REFSEQ proteins: NP_001010926.1  
    ENSEMBL proteins: 
     ENSP00000367714  
    Reactome Protein details: Q5TA89
    Human Recombinant Protein Products for HES5: 
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    Novus Biologicals HES5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HES5 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005654nucleoplasm TAS--

    HES5 for ontologies           About GeneDecksing



    HES5 Antibody Products: 
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    Assay Products for HES5: 
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    Cloud-Clone Corp. ELISAs for HES5 
    Cloud-Clone Corp. CLIAs for HES5


    (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 Q5TA89

    ProtoNet protein and cluster: Q5TA89

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


    UniProtKB/Swiss-Prot: HES5_HUMAN, Q5TA89
    Domain: Has a particular type of basic domain (presence of a helix-interrupting proline) that binds to the N-box
    (CACNAG), rather than the canonical E-box (CANNTG) (By similarity)
    Domain: The C-terminal WRPW motif is a transcriptional repression domain necessary for the 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


    HES5 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: HES5_HUMAN, Q5TA89
    Function: Transcriptional repressor of genes that require a bHLH protein for their transcription (By similarity)

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001078RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription ISS--
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
    GO:0003690double-stranded DNA binding IEA--
    GO:0005515protein binding ----
         
    HES5 for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hes5):
     cellular  craniofacial  embryogenesis  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  mortality/aging  nervous system  no phenotypic analysis  respiratory system 
     taste/olfaction  vision/eye 

    HES5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Hes5tm1Fgu for HES5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HES5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HES5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HES5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HES5 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HES5
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate HES5 (see all 16):
    hsa-miR-676 hsa-miR-376b hsa-miR-4251 hsa-miR-219-5p hsa-miR-500a hsa-miR-3921 hsa-miR-501-5p hsa-miR-3909
    SwitchGear 3'UTR luciferase reporter plasmidHES5 3' UTR sequence
    Inhib. RNA
    Products:
        
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    OriGene RNAi products in human, mouse, rat for HES5
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for HES5 (see all 7)
    OriGene ORF clones in mouse, rat for HES5
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    GenScript: all cDNA clones in your preferred vector: HES5 (NM_001010926)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HES5
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES5


    (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 HES5 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant
    Constitutive Signaling by NOTCH1 PEST Domain Mutants0.89
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7 9)(NOTCH1:M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH0.74
    3NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH20.66
    NOTCH2 intracellular domain regulates transcription0.38
    4Signaling by GPCR
    Signal Transduction0.55
    5CDC42 signaling events
    CDC42 signaling events0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for HES5
        Notch Signaling Pathway
    SIDS Susceptibility Pathways
    Neural Crest Differentiation
    Delta-Notch Signaling Pathway
    CDC42 signaling events

    5/14        Reactome Pathways for HES5 (see all 14)
        NOTCH1 Intracellular Domain Regulates Transcription
    Signaling by NOTCH
    FBXW7 Mutants and NOTCH1 in Cancer
    NOTCH2 intracellular domain regulates transcription
    Signaling by NOTCH1 HD Domain Mutants in Cancer


    1         Kegg Pathway  (Kegg details for HES5):
        Notch signaling pathway


    HES5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HES5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/14 Interacting proteins for HES5 (Q5TA893 ENSP000003677144) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ASCL1P505533, ENSP000002667444I2D: score=1 STRING: ENSP00000266744
    JAK2O606743, ENSP000003710674I2D: score=2 STRING: ENSP00000371067
    STAT3P407633, ENSP000002646574I2D: score=1 STRING: ENSP00000264657
    SOX10P566933, ENSP000003541304I2D: score=1 STRING: ENSP00000354130
    CREBBPENSP000002623674STRING: ENSP00000262367
    About this table

    Gene Ontology (GO): 5/45 biological process terms (GO ID links to tree view) (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0002062NOT chondrocyte differentiation ISS--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006461protein complex assembly ISS--
    GO:0007155cell adhesion ISS--

    HES5 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 HES5

    Search CenterWatch for drugs/clinical trials and news about HES5

    (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 HES5 gene: 
    NM_001010926.3  

    Unigene Cluster for HES5:

    Hairy and enhancer of split 5 (Drosophila)
    Hs.57971  [show with all ESTs]
    Unigene Representative Sequence: NM_001010926
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000378453(uc001ajn.3)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HES5
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate HES5 (see all 16):
    hsa-miR-676 hsa-miR-376b hsa-miR-4251 hsa-miR-219-5p hsa-miR-500a hsa-miR-3921 hsa-miR-501-5p hsa-miR-3909
    SwitchGear 3'UTR luciferase reporter plasmidHES5 3' UTR sequence
    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HES5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES5

    Additional mRNA sequence: DQ272660.1 

    2 DOTS entries:

    DT.99978174  DT.404795 

    14 AceView cDNA sequences:

    CD672134 BX104111 AA330877 AW071837 AI869503 AW136641 AW072004 BX441713 
    AW079166 W68668 BQ924744 CD672133 W68771 BM724857 

    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

    HES5 expression in normal human tissues (normalized intensities)      HES5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAAAAGGC
    HES5 Expression
    About this image


    HES5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Pre-myelinating Oligodendrocyte Cells Forebrain White Matter
             Thalamus
             N2/LSB/S/F8-induced cells ( Generation of midbrain dopaminergic, forebrain and hypothalamic...
             Fetal Neuronal Stem Cells (NSC)   
             Vomeronasal organ   
     
     Eye (Sensory Organs)    fully expand to see all 7 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
             Retina
             Human Lens Epithelial Cells (HLEpiC)   
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Pre-myelinating Oligodendrocyte Cells Spinal Cord White Matter
             Ventral Horn   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
             spinal cord/lateral wall/mantle layer   

    See HES5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HES5

    SOURCE GeneReport for Unigene cluster: Hs.57971

    UniProtKB/Swiss-Prot: HES5_HUMAN, Q5TA89
    Tissue specificity: Expressed in fetal heart and brain tumors

        SABiosciences Expression via Pathway-Focused PCR Arrays including HES5: 
              Notch Signaling Targets in human mouse rat
              Cell Lineage Identification in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HES5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HES5

    (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 HES5 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hes51 , 5 hairy and enhancer of split 5 (Drosophila)1, 5 90.3(n)1
    93.94(a)1
      4 (86.01 cM)5
    152081  NM_010419.41  NP_034549.11 
     1549609235 
    chicken
    (Gallus gallus)
    Aves HES51 hairy and enhancer of split 5 (Drosophila) 71.15(n)
    68.59(a)
      419392  NM_001012695.1  NP_001012713.1 
    lizard
    (Anolis carolinensis)
    Reptilia HES56
    Uncharacterized protein
    50(a)
    1 ↔ 1
    AAWZ02040866(817-2763)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC537822 similar to enhancer of split related 74.35(n)    AF383157.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hes52 hairy and enhancer of split 5 (Drosophila) 81.37(n)   359836  AY264404.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Her6
    HLHm76
    (see all 8)
    E(spl) region transcript m7
    (see all 8)
    23(a)
    21(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    X(18098436-18099177)
    3R(21862760-21863741)


    ENSEMBL Gene Tree for HES5 (if available)
    TreeFam Gene Tree for HES5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HES5 gene
    HES42  HES62  HES22  HES12  
    2 SIMAP similar genes for HES5 using alignment to 2 protein entries:     HES5_HUMAN (see all proteins):
    HEYL    HES2

    HES5 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

    10/58 SNPs in HES5 are shown (see all 58)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876607791,2
    --2460164(+) GTGAGA/GCACAG 1 -- ds50010--------
    rs1392536621,2
    --2460175(+) CAGACG/TACACT 1 -- ds50010--------
    rs1915281561,2
    --2460215(+) TATGGC/TGGCTT 1 -- ut310--------
    rs1826114111,2
    --2460232(+) AGTCCC/TGTGGC 1 -- ut310--------
    rs1873152851,2
    C--2460428(+) CGCCCA/GTCCGG 1 -- ut310--------
    rs1416006901,2
    C--2460465(+) CAGCTC/TGAGTT 1 -- ut310--------
    rs1156388311,2
    C,F--2460564(+) ACAGGC/TTGGGG 1 -- ut311Minor allele frequency- T:0.03NA 120
    rs726446581,2
    C,F--2460608(+) CATAGA/GACCCC 1 -- ut311Minor allele frequency- G:0.10NA 120
    rs1470678751,2
    --2460896(+) CCGCAA/GGTCCC 1 -- ut310--------
    rs1118164181,2
    C--2461172(+) GGGCCG/TGCGGC 2 A syn11Minor allele frequency- T:0.50NA 2

    HapMap Linkage Disequilibrium report for HES5 (2460184 - 2461684 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for HES5 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv84n71CNV Loss21882294
    nsv871726CNV Loss21882294
    dgv79n71CNV Loss21882294
    dgv72n71CNV Loss21882294
    dgv81n71CNV Loss21882294
    dgv83n71CNV Loss21882294
    nsv818222CNV Loss17921354
    nsv871255CNV Loss21882294
    dgv71n71CNV Loss21882294
    dgv75n71CNV Loss21882294

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    (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: 607348    OMIM disorders: --

    5 diseases for HES5:    About MalaCards
    osteoarthritis    cervicitis    hypertension    adenocarcinoma
    neuronitis


    HES5 for disorders           About GeneDecksing


    Export disorders for HES5 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 HES5 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with HES5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. Identification and characterization of human HES2, HES3, and HES5 genes in silico. (PubMed id 15254753)1, 2 Katoh M. and Katoh M. (2004)
    3. Immunohistochemical expression of Notch signaling in the lining epithelium of periapical cysts. (PubMed id 21238798)1 Meliou E....Kiaris H. (2011)
    4. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
    5. Hes1/Hes5 gene inhibits differentiation via down-regu lating Hash1 and promotes proliferation in cervical carcinoma cells. (PubMed id 21495212)1 Liu J....Xie X. (2010)
    6. The expressions of bHLH gene HES1 and HES5 in advance d ovarian serous adenocarcinomas and their prognostic significance: a retrospec tive clinical study. (PubMed id 20091184)1 Wang X....Xie X. (2010)
    7. Notch3 signaling promotes the development of pulmonar y arterial hypertension. (PubMed id 19855400)1 Li X....Thistlethwaite P.A. (2009)
    8. Notch signaling is required for maintaining stem-cell features of neuroprogenitor cells derived from human embryonic stem cells. (PubMed id 19682396)1 Woo S.M....Kang Y.K. (2009)
    9. [Transcription factor network that regulates brain development] (PubMed id 18524252)1 Kageyama R. (2008)
    10. Notch1, Jagged1, and HES5 are abundantly expressed in osteoarthritis. (PubMed id 18354251)1 Karlsson C....Lindahl A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 388585 HGNC: 19764 AceView: LOC388585 Ensembl:ENSG00000197921 euGenes: HUgn388585
    ECgene: HES5 Kegg: 388585 H-InvDB: HES5

    (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 HES5 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 HES5 gene:
    Search GeneIP for patents involving HES5

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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