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SETD8 Gene

protein-coding   GIFtS: 59
GCID: GC12P123868

SET Domain Containing (Lysine Methyltransferase) 8

  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)
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Aliases
SET Domain Containing (Lysine Methyltransferase) 81 2     PR/SET Domain-Containing Protein 072 3
Histone-Lysine N-Methyltransferase SETD82 3     SET Domain-Containing Protein 82 3
Lysine N-Methyltransferase 5A2 3     EC 2.1.1.433 8
KMT5A2 3     H4-K20-Specific Histone Methyltransferase2
PR-Set72 3     H4K20-Specific Histone Methyltransferase Splice Variant Set8b2
PR/SET072 3     N-Lysine Methyltransferase SETD82
SET072 3     PR/SET Domain Containing Protein 82
SET82 3     EC 2.1.1.-3
H4-K20-HMTase SETD82 3     PRSET73

External Ids:    HGNC: 294891   Entrez Gene: 3878932   Ensembl: ENSG000001839557   OMIM: 6072405   UniProtKB: Q9NQR13   

Export aliases for SETD8 gene to outside databases

Previous GC identifers: GC12P122434 GC12P120829


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SETD8 Gene:
SETD8 (SET domain containing (lysine methyltransferase) 8) is a protein-coding gene. Diseases associated with SETD8 include ovarian cancer, and breast cancer. GO annotations related to this gene include transcription corepressor activity and histone-lysine N-methyltransferase activity.

UniProtKB/Swiss-Prot: SETD8_HUMAN, Q9NQR1
Function: Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins.
Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents
a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby
playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by
contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome
condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates
monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes. Plays a negative role in
TGF-beta response regulation and a positive role in cell migration

Gene Wiki entry for SETD8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the SETD8 gene promoter:
         E2F-4   E2F-3a   USF1   E2F-5   p53   E2F-2   E2F   E2F-1   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSETD8 promoter sequence
   Search Chromatin IP Primers for SETD8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SETD8


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

Entrez Gene cytogenetic band: 12q24.31   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24.31

SETD8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETD8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P123868:  view genomic region     (about GC identifiers)

Start:
123,868,320 bp from pter      End:
123,893,905 bp from pter
Size:
25,586 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SETD8_HUMAN, Q9NQR1 (See protein sequence)
Recommended Name: N-lysine methyltransferase SETD8  
Size: 393 amino acids; 42890 Da
Subunit: Interacts with L3MBTL1
Developmental stage: Not detected during G1 phase. First detected during S through G2 phases, and peaks during
mitosis (at protein level)
Caution: It is uncertain whether Met-1 or Met-72 is the initiator
Sequence caution: Sequence=AAL40879.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Selected PDB 3D structures from and Proteopedia for SETD8 (see all 7):
1ZKK (3D)        2BQZ (3D)        3F9W (3D)        3F9X (3D)        3F9Y (3D)        3F9Z (3D)    
Secondary accessions: A8K9D0 Q86W83 Q8TD09
Alternative splicing: 2 isoforms:  Q9NQR1-1   Q9NQR1-2   

Explore the universe of human proteins at neXtProt for SETD8: NX_Q9NQR1

Explore proteomics data for SETD8 at MOPED

Post-translational modifications: 

  • Ubiquitinated and degraded by the DCX(DTL) complex (Probable)1
  • Ubiquitination2 at Lys236, Lys275
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for SETD8 (Q9NQR1) (see all 7)
     GRLINHS  GCYMYYF  PLQEENSV  VVEYHGDL 


    See SETD8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065115.3  
    ENSEMBL proteins: 
     ENSP00000384629   ENSP00000406830   ENSP00000413811   ENSP00000332995  
    Reactome Protein details: Q9NQR1

    SETD8 Human Recombinant Protein Products:

    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
    OriGene Purified Protein for SETD8
    OriGene Protein Over-expression Lysate for SETD8
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SETD8
    GenScript Custom Purified and Recombinant Proteins Services for SETD8
    Novus Biologicals SETD8 Lysate
    Sino Biological Recombinant Protein for SETD8
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SETD8

    SETD8 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SETD8
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for SETD8 
    OriGene Antibodies for SETD8
    OriGene Custom Antibody Services for SETD8
    Novus Biologicals SETD8 Antibodies
    Search for Antibodies for SETD8 at Abcam
    Cloud-Clone Corp. Antibodies for SETD8
    ThermoFisher Antibodies for SETD8
    LSBio Antibodies in human, mouse, rat for SETD8

    SETD8 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SETD8
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SETD8
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SETD8
    Cloud-Clone Corp. CLIAs for SETD8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KMT: Chromatin-modifying enzymes / K-methyltransferases

    2 InterPro protein domains:
     IPR001214 SET_dom
     IPR016858 Hist_H4-K20_MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q9NQR1

    ProtoNet protein and cluster: Q9NQR1

    1 Blocks protein domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: SETD8_HUMAN, Q9NQR1
    Domain: Although the SET domain contains the active site of enzymatic activity, both sequences upstream and
    downstream of the SET domain are required for methyltransferase activity
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine
    methyltransferase family. PR/SET subfamily
    Similarity: Contains 1 SET domain


    SETD8 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SETD8_HUMAN, Q9NQR1
    Function: Protein-lysine N-methyltransferase that monomethylates both histones and non-histone proteins.
    Specifically monomethylates 'Lys-20' of histone H4 (H4K20me1). H4K20me1 is enriched during mitosis and represents
    a specific tag for epigenetic transcriptional repression. Mainly functions in euchromatin regions, thereby
    playing a central role in the silencing of euchromatic genes. Required for cell proliferation, probably by
    contributing to the maintenance of proper higher-order structure of DNA during mitosis. Involved in chromosome
    condensation and proper cytokinesis. Nucleosomes are preferred as substrate compared to free histones. Mediates
    monomethylation of p53/TP53 at 'Lys-382', leading to repress p53/TP53-target genes. Plays a negative role in
    TGF-beta response regulation and a positive role in cell migration
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]
    Induction: By HCFC1 C-terminal chain, independently of HCFC1 N-terminal chain. Transiently induced by TGF-beta and
    during the cell cycle

         Enzyme Numbers (IUBMB): EC 2.1.1.431 2 EC 2.1.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding IPI17707234
    GO:0003714transcription corepressor activity IDA18408754
    GO:0005515protein binding IPI15933069
    GO:0016279protein-lysine N-methyltransferase activity IDA17707234
    GO:0018024histone-lysine N-methyltransferase activity IDA17707234
         
    SETD8 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SETD8:
     Decreased cell number and incr  Decreased number of cells in m  Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Setd8):
     cellular  embryogenesis  homeostasis/metabolism  mortality/aging  normal 

    SETD8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Setd8tm1.2Dare for SETD8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SETD8
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SETD8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETD8
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SETD8

    miRNA
    Products:
        
    miRTarBase miRNAs that target SETD8:
    hsa-mir-186-5p (MIRT045160), hsa-mir-193b-3p (MIRT016360), hsa-mir-7-5p (MIRT025791), hsa-mir-127-3p (MIRT006953), hsa-mir-375 (MIRT019883)

    Block miRNA regulation of human, mouse, rat SETD8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETD8 (see all 92):
    hsa-miR-124* hsa-miR-3130-5p hsa-miR-100* hsa-miR-3938 hsa-miR-485-3p hsa-miR-1304 hsa-miR-3613-3p hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidSETD8 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SETD8
    Predesigned siRNA for gene silencing in human, mouse, rat SETD8

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SETD8

    Clone
    Products:
         
    OriGene clones in human, mouse for SETD8 (see all 6)
    OriGene ORF clones in mouse, rat for SETD8
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SETD8
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETD8

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SETD8
    Browse ESI BIO Cell Lines and PureStem Progenitors for SETD8 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD8


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SETD8_HUMAN, Q9NQR1: Nucleus. Chromosome. Note=Specifically localizes to mitotic chromosomes. Associates with
    silent chromatin on euchromatic arms. Not associated with constitutive heterochromatin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome IEA--
    GO:0005730nucleolus IDA--

    SETD8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SETD8 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    2RNA Polymerase I Promoter Opening
    Condensation of Prophase Chromosomes0.78
    Mitotic Prophase0.56
    3Packaging Of Telomere Ends
    Histone modification0.31
    4p53 pathway
    p53 pathway
    5Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SETD8
        Chromatin Regulation / Acetylation

    1 BioSystems Pathway for SETD8
        p53 pathway


    1 Reactome Pathway for SETD8
        Condensation of Prophase Chromosomes


    1 Kegg Pathway  (Kegg details for SETD8):
        Lysine degradation


    SETD8 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SETD8: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SETD8

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

    Selected Interacting proteins for SETD8 (Q9NQR11, 2, 3 ENSP000003329954) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4BP628051, 2, 3EBI-1268946,EBI-302023 MINT-8309424 I2D: score=2 
    HIST1H4CP628051, 2, 3EBI-1268946,EBI-302023 MINT-8309424 I2D: score=2 
    HIST1H4DP628051, 2, 3EBI-1268946,EBI-302023 MINT-8309424 I2D: score=2 
    HIST1H4EP628051, 2, 3EBI-1268946,EBI-302023 MINT-8309424 I2D: score=2 
    HIST1H4FP628051, 2, 3EBI-1268946,EBI-302023 MINT-8309424 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP17707234
    GO:0000278mitotic cell cycle TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007067mitosis IEA--
    GO:0018026peptidyl-lysine monomethylation IDA17707234

    SETD8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SETD8

    2 HMDB Compounds for SETD8    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SETD8 gene: 
    NM_020382.3  

    Unigene Clusters for SETD8:

    SET domain containing (lysine methyltransferase) 8
    Hs.443735  [show with all ESTs], Hs.572262  [show with all ESTs]
    Unigene Representative Sequences: BC050346, AF287261
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000402868(uc001uew.3) ENST00000437519 ENST00000537270 ENST00000478781
    ENST00000461103 ENST00000462311 ENST00000437502 ENST00000485469 ENST00000330479

    miRNA
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    Block miRNA regulation of human, mouse, rat SETD8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SETD8 (see all 92):
    hsa-miR-124* hsa-miR-3130-5p hsa-miR-100* hsa-miR-3938 hsa-miR-485-3p hsa-miR-1304 hsa-miR-3613-3p hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidSETD8 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SETD8
    Clone
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    OriGene clones in human, mouse for SETD8 (see all 6)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for SETD8
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETD8
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETD8
    Primer
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    OriGene qPCR primer pairs and template standards for SETD8
    OriGene qSTAR qPCR primer pairs in human, mouse for SETD8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SETD8
      QuantiTect SYBR Green Assays in human, mouse, rat SETD8
      QuantiFast Probe-based Assays in human, mouse, rat SETD8

    Additional mRNA sequence: AF287261.2 

    19 DOTS entries:

    DT.451685  DT.97824255  DT.95303580  DT.100810811  DT.100810799  DT.121172173  DT.92439048  DT.100705359 
    DT.100766883  DT.100810810  DT.120975370  DT.100810809  DT.121172229  DT.91859506  DT.97803490  DT.99976490 
    DT.100728576  DT.100810804  DT.97782881 

    Selected AceView cDNA sequences (see all 354):

    BE669459 AW136469 CR597635 AA515868 NM_020382 W24191 AI879091 BQ018609 
    R84876 BM459889 AA772145 CB119588 BQ021332 BE705842 CA487971 AW340996 
    BX334427 BQ422403 BX477691 CR597775 CA434407 CA976124 BM471628 AI659805 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SETD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SETD8 Expression
    About this image

    SETD8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SETD8 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.443735 Hs.572262
        Pathway & Disease-focused RT2 Profiler PCR Array including SETD8: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SETD8
    OriGene qSTAR qPCR primer pairs in human, mouse for SETD8
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SETD8
    QuantiTect SYBR Green Assays in human, mouse, rat SETD8
    QuantiFast Probe-based Assays in human, mouse, rat SETD8
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SETD8 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setd81 , 5 SET domain containing (lysine methyltransferase) 81, 5 89.24(n)1
    91.43(a)1
      5 (63.59 cM)5
    679561  NM_030241.21  NP_084517.21 
     1244399305 
    chicken
    (Gallus gallus)
    Aves SETD81 SET domain containing (lysine methyltransferase) 8 70.83(n)
    75(a)
      416825  XM_415116.4  XP_415116.3 
    lizard
    (Anolis carolinensis)
    Reptilia SETD86
    SET domain containing (lysine methyltransferase) 8...
    67(a)
    1 ↔ 1
    LGb(1812573-1820994)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.26432 Transcribed sequence with moderate similarity to protein more 76.94(n)    AL778215.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj33f022 Transcribed sequence with weak similarity to protein more 74.7(n)    57044932 
    fruit fly
    (Drosophila melanogaster)
    Insecta pr-set76
    pr-set7
    17(a)
    1 ↔ 1
    3R(10141710-10146216)
    worm
    (Caenorhabditis elegans)
    Secernentea set-11 set-1 51.2(n)
    46.41(a)
      175918  NM_001027625.3  NP_001022796.1 


    ENSEMBL Gene Tree for SETD8 (if available)
    TreeFam Gene Tree for SETD8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SETD8 gene

    SETD8 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SETD8
    PGOHUM00000240176 PGOHUM00000238267


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SETD8 (see all 588)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1412532421,2
    C--123866708(+) AGGCAC/TGCACC 1 -- us2k10--------
    rs1125720791,2
    C,F--123866709(+) GGCACG/ACACCA 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1913907911,2
    --123866915(+) ACCAGC/TTCCTT 1 -- us2k10--------
    rs1391783761,2
    --123866934(+) AGGTAG/TGGAAA 1 -- us2k10--------
    rs1822703391,2
    --123867002(+) GTGTCC/TTTTTC 1 -- us2k10--------
    rs285038621,2
    C--123867106(+) AAAACT/CTTTTC 1 -- us2k19Minor allele frequency- C:0.17WA NA EA 372
    rs1169047691,2
    C,F--123867183(+) AGCAGT/CAGTAA 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs1868622491,2
    --123867202(+) CTTCCA/CTGAGT 1 -- us2k10--------
    rs767901521,2
    C,F--123867239(+) ATTCTC/GTGGGA 1 -- us2k11Minor allele frequency- G:0.38WA 118
    rs286134861,2
    C,F,H--123867268(+) CTCTCC/TCAGAG 1 -- us2k1 trp324Minor allele frequency- T:0.10NS EA NA WA CSA 2352

    HapMap Linkage Disequilibrium report for SETD8 (123868320 - 123893905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SETD8:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2417445CNV Deletion18987734
    esv2746505CNV Deletion23290073
    dgv37e19CNV Loss19470904
    nsv899579CNV Loss21882294
    nsv826534CNV Gain20364138

    Human Gene Mutation Database (HGMD): SETD8
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SETD8
    DNA2.0 Custom Variant and Variant Library Synthesis for SETD8

    (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.)
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    OMIM gene information: 607240    OMIM disorders: --

    3 diseases for SETD8:    
    About MalaCards
    ovarian cancer    breast cancer    hepatocellular carcinoma


    SETD8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SETD8
    Human Genome Epidemiology (HuGE) Navigator: SETD8 (1 document)

    Export disorders for SETD8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SETD8 gene, integrated from 10 sources (see all 57):
    (articles sorted by number of sources associating them with SETD8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional analysis of SET8, a histone H4 'Lys-20' methyltransferase. (PubMed id 15933070)1, 2, 3 Couture J.-F.... Trievel R.C. (Genes Dev. 2005)
    2. PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin. (PubMed id 12086618)1, 2, 3 Nishioka K.... Reinberg D. (Mol. Cell 2002)
    3. Purification and functional characterization of SET8, a nucleosomal histone H4-lysine 20-specific methyltransferase. (PubMed id 12121615)1, 2, 3 Fang J.... Zhang Y. (Curr. Biol. 2002)
    4. Modulation of p53 function by SET8-mediated methylation at lysine 382. (PubMed id 17707234)1, 2, 9 Shi X.... Gozani O. (Mol. Cell 2007)
    5. CRL1-FBXO11 promotes Cdt2 ubiquitylation and degradation and regulates Pr-Set7/Set8-mediated cellular migration. (PubMed id 23478445)1, 2 Abbas T....Dutta A. (Mol. Cell 2013)
    6. The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at lysine 382 to target gene repression. (PubMed id 20870725)1, 2 West L.E.... Gozani O. (J. Biol. Chem. 2010)
    7. An miR-502-binding site single-nucleotide polymorphism in the 3'-untranslated region of the SET8 gene is associated with early age of breast cancer onset. (PubMed id 19789321)1, 4 Song F....Chen K. (Clin. Cancer Res. 2009)
    8. Histone H4 lysine 20 monomethylation promotes transcriptional repression by L3MBTL1. (PubMed id 18408754)1, 2 Kalakonda N....Nimer S.D. (Oncogene 2008)
    9. Specificity and mechanism of the histone methyltransferase Pr-Set7. (PubMed id 15933069)1, 2 Xiao B.... Wilson J.R. (Genes Dev. 2005)
    10. SET8 recognizes the sequence RHRK20VLRDN within the N terminus of histone H4 and mono-methylates lysine 20. (PubMed id 15964846)1, 2 Yin Y.... Zhu G. (J. Biol. Chem. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 387893 HGNC: 29489 AceView: SET8 Ensembl:ENSG00000183955 euGenes: HUgn387893
    ECgene: SETD8 Kegg: 387893 H-InvDB: SETD8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SETD8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SETD8 gene:
    Search GeneIP for patents involving SETD8

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



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