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

SETD8 Gene

protein-coding   GIFtS: 57
GCID: GC12P123868

SET domain containing (lysine methyltransferase) 8
 Explore 3 diseases affiliated with
SETD8 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SETD8    

Aliases
for SETD8 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SET Domain Containing (Lysine Methyltransferase) 81 2     PR/SET Domain-Containing Protein 072 3
KMT5A1 2 3     SET Domain-Containing Protein 82 3
PR-Set71 2 3     EC 2.1.1.433 8
SET071 2 3     H4-K20-Specific Histone Methyltransferase2
SET81 2 3     H4K20-Specific Histone Methyltransferase Splice Variant Set8b2
Histone-Lysine N-Methyltransferase SETD82 3     N-Lysine Methyltransferase SETD82
Lysine N-Methyltransferase 5A2 3     PR/SET Domain Containing Protein 82
PR/SET072 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


Summaries
for SETD8 gene

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

Gene Wiki entry for SETD8


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009755.19  
Regulatory elements:
   SABiosciences 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 plasmid: SETD8 promoter sequence
   Search SABiosciences Chromatin IP Primers for SETD8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SETD8 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SETD8_HUMAN, Q9NQR1 (See protein sequence)
Recommended Name: N-lysine methyltransferase SETD8  
Size: 393 amino acids; 42890 Da
Subunit: Interacts with L3MBTL1
Subcellular location: Nucleus. Chromosome. Note=Specifically localizes to mitotic chromosomes. Associates with silent
chromatin on euchromatic arms. Not associated with constitutive heterochromatin
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;
6/7 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NQR1

    • 4/7 DME Specific Peptides for SETD8 (Q9NQR1) (see all 7)
     GRLINHS  GCYMYYF  PLQEENSV  VVEYHGDL 

    SETD8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_065115.3  
    ENSEMBL proteins: 
     ENSP00000384629   ENSP00000406830   ENSP00000413811   ENSP00000332995  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: SETD8
    OriGene Custom Protein Services for SETD8 
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    Novus Biologicals SETD8 Lysate
    Sino Biological Recombinant Protein for SETD8
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SETD8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005694chromosome IEA--


    SETD8 for ontologies           About GeneDecksing



    SETD8 Antibody Products: 
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    ThermoFisher Antibodies for SETD8

    Assay Products for SETD8: 
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    Uscn ELISAs and CLIAs for SETD8

    Protein Domains /
    Families
    for SETD8 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SETD8 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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 histone-lysine methyltransferase family. PR/SET subfamily
    Similarity: Contains 1 SET domain


    Function
    for SETD8 gene

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

         UniProtKB/Swiss-Prot: 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
    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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETD8
    8/92 QIAGEN miScript miRNA 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 plasmid: SETD8 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SETD8 (see all 3)
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETD8

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SETD8 (see all 2)
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    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
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    Search LifeMap BioReagents cell lines for SETD8

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD8

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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


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

    Animal Models:
         Mouse knock-out Setd8tm1.2Dare for SETD8
         5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Setd8):
     cellular  embryogenesis  homeostasis/metabolism  mortality/aging  normal 

    SETD8 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SETD8 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Chromatin Regulation / Acetylation
    		Chromatin Regulation / Acetylation1.00
    2p53 pathway
    		p53 pathway1.00
    3Lysine degradation
    		Lysine degradation1.00
    4Signal transduction Activin A signaling regulation
    		Histone modification0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for SETD8
        Histone modification


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

    1 BioSystems Pathway for SETD8 
        p53 pathway


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


    SETD8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SETD8

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

    5/45 Interacting proteins for SETD8 (Q9NQR11, 2, 3 ENSP000003329954) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP17707234
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007067mitosis IEA--
    GO:0018026peptidyl-lysine monomethylation IDA17707234
    GO:0034968histone lysine methylation IDA17707234


    SETD8 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SETD8 gene

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

    Browse Tocris compounds for 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--
    Search CenterWatch for drugs/clinical trials and news about SETD8 

    Transcripts
    for SETD8 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    Products:             		 OriGene 3'-UTR Clone: SETD8
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SETD8
    8/92 QIAGEN miScript miRNA 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 plasmid: SETD8 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SETD8 (see all 3)
    Browse OriGene siRNA
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETD8
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETD8

    Additional cDNA 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 

    24/354 AceView cDNA sequences (see all 354):

    AI879091 CR597635 AI659805 CA434407 BQ021332 BE669459 BX363178 CR597775 
    AW136469 AA515868 BE673752 AA772145 CA437705 R84876 BX334427 BQ018609 
    CB119588 AW675153 AA421501 BV178093 BQ422403 CA487971 AW340996 NM_020382 

    GeneLoc Exon Structure


    Expression
    for SETD8 gene

    (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

    SETD8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SETD8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETD8

    SOURCE GeneReport for Unigene clusters: Hs.443735 Hs.572262
        SABiosciences Expression via Pathway-Focused PCR Array including SETD8: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

    Primer
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    QIAGEN 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
    for SETD8 gene

    (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 SETD8 gene from 7/20 species (see all 20)    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 89.62(n)1
    92.29(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 71.58(n)
    76.07(a)    		   416825  XM_415116.3  XP_415116.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SETD86
    		 --
    		 68(a)
    		 1 ↔ 1
    		 LGb(1812573-1819539)
    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
    		 16(a)
    		 1 ↔ 1
    		 3R(10141710-10146216)
    worm
    (Caenorhabditis elegans)    		 Secernentea set-16
    		 Probable histone-lysine N-methyltransferase set-1
    		 37(a)
    		 1 ↔ 1
    		 III(6450755-6452322)


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

    Paralogs
    for SETD8 gene

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

    SETD8 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SETD8
    PGOHUM00000240176 PGOHUM00000238267


    Genomic Variants
    for SETD8 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/469 NCBI SNPs in SETD8 are shown (see all 469)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1412532421,2
    		--123866708(+) AGGCAC/TGCACC 1 -- us2k10--------
    rs1125720791,2
    		C,--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
    		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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for SETD8
         4 CNVs: 39119 63048 43839 39118
    Human Gene Mutation Database (HGMD): SETD8

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SETD8 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SETD8 for disorders           About GeneDecksing

    OMIM gene information: 607240    OMIM disorders: --

    3 diseases for SETD8:    About MalaCards
    homocysteine    breast cancer    malaria

    Human Genome Epidemiology (HuGE) Navigator: SETD8 (1 document)

    Export disorders for SETD8 gene to outside databases

    Publications
    for SETD8 gene

    (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 SETD8 gene, integrated from 9 sources (see all 46):
    (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. (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. (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. (2002)
    4. Modulation of p53 function by SET8-mediated methylation at lysine 382. (PubMed id 17707234)1, 2, 9 Shi X....Gozani O. (2007)
    5. 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. (2010)
    6. Histone H4 lysine 20 monomethylation promotes transcriptional repression by L3MBTL1. (PubMed id 18408754)1, 2 Kalakonda N....Nimer S.D. (2008)
    7. Specificity and mechanism of the histone methyltransferase Pr-Set7. (PubMed id 15933069)1, 2 Xiao B.... Wilson J.R. (2005)
    8. 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. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Mitotic-specific methylation of histone H4 Lys 20 follows increased PR-Set7 expression and its localization to mitotic chromosomes. (PubMed id 12208845)1, 2 Rice J.C.... Allis C.D. (2002)

    External Searches for SETD8 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing SETD8 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 387893 HGNC: 29489 AceView: SET8 Ensembl:ENSG00000183955 euGenes: HUgn387893
    ECgene: SETD8 Kegg: 387893 H-InvDB: SETD8

    Other Databases showing SETD8 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SETD8 gene

    (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 SETD8 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SETD8 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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