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

SETDB2 Gene

protein-coding   GIFtS: 58
GCID: GC13P050018

SET Domain, Bifurcated 2

(Previous name: chromosome 13 open reading frame 4)
(Previous symbol: C13orf4)
Microbiology & Infectious Diseases Congress
  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
SET Domain, Bifurcated 21 2     Chromosome 13 Open Reading Frame 41
C13orf41 2 3     CLLL82
CLLD82 3 5     Chronic Lymphocytic Leukemia Deletion Region 82
Chronic Lymphocytic Leukemia Deletion Region Gene 8 Protein2 3     Histone-Lysine N-Methyltransferase SETDB22
Lysine N-Methyltransferase 1F2 3     EC 2.1.1.433
KMT1F2 3     SET Domain Bifurcated 23

External Ids:    HGNC: 202631   Entrez Gene: 838522   Ensembl: ENSG000001361697   OMIM: 6078655   UniProtKB: Q96T683   

Export aliases for SETDB2 gene to outside databases

Previous GC identifers: GC13P048954 GC13P047816 GC13P048916 GC13P030812


(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 SETDB2 Gene:
Proteins that contain a SET domain, such as SETDB2, modulate gene expression epigenetically through histone H3
(see MIM 601128) methylation. SETDB2 is likely a histone H3 methyltransferase, as it contains both the active
site and flanking cysteine residues required for catalytic activity (Zhang et al., 2003 (PubMed
12754510)).(supplied by OMIM, Mar 2008)

GeneCards Summary for SETDB2 Gene: 
SETDB2 (SET domain, bifurcated 2) is a protein-coding gene. Diseases associated with SETDB2 include chronic lymphocytic leukemia, and leukemia. GO annotations related to this gene include histone methyltransferase activity (H3-K9 specific) and DNA binding. An important paralog of this gene is SETDB1.

UniProtKB/Swiss-Prot: SETB2_HUMAN, Q96T68
Function: Histone methyltransferase involved in left-right axis specification in early development and mitosis.
Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic
transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones.
Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a
role in chromosome condensation and segregation during mitosis




(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_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SETDB2 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   E2F   E2F-1   POU2F1   POU2F1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSETDB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SETDB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETDB2


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

Entrez Gene cytogenetic band: 13q14   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q14

SETDB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SETDB2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P050018:  view genomic region     (about GC identifiers)

Start:
50,018,429 bp from pter      End:
50,069,139 bp from pter
Size:
50,711 bases      Orientation:
plus 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: SETB2_HUMAN, Q96T68 (See protein sequence)
Recommended Name: Histone-lysine N-methyltransferase SETDB2  
Size: 719 amino acids; 81894 Da
Subcellular location: Nucleus. Chromosome (Probable)
Sequence caution: Sequence=CAH56265.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=CAI10818.2; Type=Erroneous gene model prediction;
Secondary accessions: Q5TC65 Q5TC66 Q5W0A7 Q659A7 Q86UD6 Q96AI6
Alternative splicing: 3 isoforms:  Q96T68-1   Q96T68-2   Q96T68-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SETDB2: NX_Q96T68

Explore proteomics data for SETDB2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96T68

  • SETDB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SETDB2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001153780.1  NP_114121.2  

    ENSEMBL proteins: 
     ENSP00000326477   ENSP00000258672   ENSP00000346175  

    Human Recombinant Protein Products for SETDB2: 
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    Novus Biologicals SETDB2 Proteins
    Novus Biologicals SETDB2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SETDB2 

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

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

    SETDB2 for ontologies           About GeneDecksing



    SETDB2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for SETDB2 
    Cloud-Clone Corp. CLIAs for SETDB2


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

    4 InterPro protein domains:
     IPR001214 SET_dom
     IPR016177 DNA-bd_integrase-typ
     IPR007728 Pre-SET_dom
     IPR001739 Methyl_CpG_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q96T68

    ProtoNet protein and cluster: Q96T68

    1 Blocks protein domain: IPB001214 Nuclear protein SET

    UniProtKB/Swiss-Prot: SETB2_HUMAN, Q96T68
    Similarity: Belongs to the class V-like SAM-binding methyltransferase superfamily
    Similarity: Contains 1 MBD (methyl-CpG-binding) domain
    Similarity: Contains 1 pre-SET domain
    Similarity: Contains 1 SET domain


    SETDB2 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: SETB2_HUMAN, Q96T68
    Function: Histone methyltransferase involved in left-right axis specification in early development and mitosis.
    Specifically trimethylates 'Lys-9' of histone H3 (H3K9me3). H3K9me3 is a specific tag for epigenetic
    transcriptional repression that recruits HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones.
    Contributes to H3K9me3 in both the interspersed repetitive elements and centromere-associated repeats. Plays a
    role in chromosome condensation and segregation during mitosis
    Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +
    N(6)-methyl-L-lysine-[histone]

         Enzyme Number (IUBMB): EC 2.1.1.431

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0018024histone-lysine N-methyltransferase activity ----
    GO:0046974histone methyltransferase activity (H3-K9 specific) IDA--
         
    SETDB2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SETDB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SETDB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SETDB2 
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    SwitchGear 3'UTR luciferase reporter plasmidSETDB2 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of SETDB2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETDB2


    (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 SETDB2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Lysine degradation
    Lysine degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for SETDB2):
        Lysine degradation


    SETDB2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SETDB2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5 Interacting proteins for SETDB2 (Q96T683 ENSP000003264774) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGHG1P018573, ENSP000003749904I2D: score=1 STRING: ENSP00000374990
    TATP177353I2D: score=1 
    PLOD1ENSP000001960614STRING: ENSP00000196061
    PLOD2ENSP000002829034STRING: ENSP00000282903
    PLOD3ENSP000002231274STRING: ENSP00000223127
    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:0001947heart looping ISS--
    GO:0007059chromosome segregation IMP--
    GO:0007067mitosis IMP--
    GO:0034968histone lysine methylation ----
    GO:0045892negative regulation of transcription, DNA-dependent ISS--

    SETDB2 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 SETDB2 (SETB2)

    2 HMDB Compounds for SETDB2    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 SETDB2 / SETB2

    (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 SETDB2 gene (2 alternative transcripts): 
    NM_001160308.1  NM_031915.2  

    Unigene Cluster for SETDB2:

    SET domain, bifurcated 2
    Hs.631789  [show with all ESTs]
    Unigene Representative Sequence: NM_031915
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317257 ENST00000481439 ENST00000258672(uc021rjn.1) ENST00000354234(uc010adg.2 uc010adh.2 uc001vcz.3 uc001vda.3)

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/20 QIAGEN miScript miRNA Assays for microRNAs that regulate SETDB2 (see all 20):
    hsa-miR-3938 hsa-miR-642a hsa-miR-300 hsa-miR-29a hsa-miR-29c hsa-miR-767-5p hsa-let-7a-2* hsa-miR-410
    SwitchGear 3'UTR luciferase reporter plasmidSETDB2 3' UTR sequence
    Inhib. RNA
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    Clone
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    OriGene clones in human, mouse for SETDB2 (see all 13)
    OriGene ORF clones in mouse, rat for SETDB2
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    GenScript: all cDNA clones in your preferred vector (see all 2): SETDB2 (NM_031915)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SETDB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SETDB2
    Sirion Biotech Customized lentivirus for stable overexpression of SETDB2 
                         Customized lentivirus expression plasmids for stable overexpression of SETDB2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETDB2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETDB2

    Additional mRNA sequence: 

    AF086317.1 AF277186.1 AF334407.1 AK307593.1 AK308220.1 AK308354.1 AK311602.1 AL831937.1 
    BC017078.1 BC028202.1 BC047434.2 

    14 DOTS entries:

    DT.451703  DT.100754350  DT.100021760  DT.99941016  DT.107354  DT.100754352  DT.120771099  DT.112490 
    DT.40114015  DT.91682494  DT.91819713  DT.120771066  DT.92416347  DT.95368814 

    24/88 AceView cDNA sequences (see all 88):

    AI374660 AA281080 AI697183 CR608721 AA262434 AV709444 AI804313 BX281643 
    CA771828 BC017078 AI075941 AA648818 AA761971 AF086317 AV709114 CR597159 
    BM272746 AA831594 AF334407 CK905119 AA252557 AL833957 NM_031915 BX956738 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SETDB2 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                -                           
    SP3:                                                                                                                                -                 -         
    SP4:                                                                                                                                                            
    SP5:                                                                                      -                                                                     

    ExUns: 17a · 17b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for SETDB2

    (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

    SETDB2 expression in normal human tissues (normalized intensities)      SETDB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SETDB2 Expression
    About this image


    SETDB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Epithalamus
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
             sperm   
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             monocyte-derived macrophage   

    See SETDB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SETDB2

    SOURCE GeneReport for Unigene cluster: Hs.631789

    UniProtKB/Swiss-Prot: SETB2_HUMAN, Q96T68
    Tissue specificity: Ubiquitous. Highest expression in heart, testis and ovary

        SABiosciences Expression via Pathway-Focused PCR Array including SETDB2: 
              Epigenetic Chromatin Modification Enzymes in human mouse rat

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETDB2
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETDB2

    (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 SETDB2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Setdb21 , 5 SET domain, bifurcated 21, 5 78.95(n)1
    68.22(a)1
      14 (31.48 cM)5
    2391221  NM_001081024.11  NP_001074493.11 
     594020095 
    chicken
    (Gallus gallus)
    Aves SETDB21 SET domain, bifurcated 2 59.79(n)
    50(a)
      418866  XM_417061.2  XP_417061.2 
    lizard
    (Anolis carolinensis)
    Reptilia SETDB26
    SET domain, bifurcated 2
    43(a)
    1 ↔ 1
    1(137440405-137460787)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3987112 putative histone methylatransferase CLLD8 77.52(n)    AY145835.1 
    zebrafish
    (Danio rerio)
    Actinopterygii SETDB26
    SET domain, bifurcated 2
    27(a)
    1 ↔ 1
    1(769342-772993)
    fruit fly
    (Drosophila melanogaster)
    Insecta egg6
    eggless
    13(a)
    1 → many
    2R(20663057-20667437)
    worm
    (Caenorhabditis elegans)
    Secernentea met-26
    Protein MET-2
    10(a)
    1 → many
    III(8375298-8380849)


    ENSEMBL Gene Tree for SETDB2 (if available)
    TreeFam Gene Tree for SETDB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SETDB2 gene
    SETDB12  
    2 SIMAP similar genes for SETDB2 using alignment to 1 protein entry:     SETB2_HUMAN:
    DKFZp586I0123    FP13812

    SETDB2 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

    10/916 SNPs in SETDB2 are shown (see all 916)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs619599921,2
    C,F--50020280(+) ATATGG/CTATAA 1 -- int111Minor allele frequency- C:0.46NA WA CSA EA 373
    rs1497855151,2
    C--50020355(+) CTTTT-/ACATTC 1 -- int10--------
    rs1391740001,2
    --50020372(+) AGAATA/TGGTAC 1 -- int10--------
    rs1499851521,2
    --50020402(+) ATCCAC/GATTTT 1 -- int10--------
    rs1451593871,2
    C--50020416(+) CTTGAA/GTTTTT 1 -- int10--------
    rs1921702771,2
    C--50020546(+) TCCCTC/TACTCC 1 -- int11Minor allele frequency- T:0.00EU 591
    rs1491701731,2
    --50020646(+) TATAGA/GTGAAT 1 -- int10--------
    rs1844843561,2
    --50020829(+) TTAATA/GTAAAA 1 -- int10--------
    rs1893583071,2
    --50020919(+) ATTCTC/TTGAGA 1 -- int10--------
    rs1928971741,2
    --50021010(+) TCTAGG/TATATA 1 -- int10--------

    HapMap Linkage Disequilibrium report for SETDB2 (50018429 - 50069139 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SETDB2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv3404CNV Deletion18987735
    esv2747395CNV Deletion23290073
    esv2747394CNV Deletion23290073
    esv272759CNV Insertion20981092
    esv267803CNV Insertion20981092
    nsv900070CNV Loss21882294
    nsv523648CNV Gain19592680


    Human Gene Mutation Database (HGMD): SETDB2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SETDB2
    DNA2.0 Custom Variant and Variant Library Synthesis for SETDB2

    (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: 607865    OMIM disorders: --

    4 diseases for SETDB2:    About MalaCards
    chronic lymphocytic leukemia    leukemia    b-cell chronic lymphocytic leukemia    asthma


    SETDB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SETDB2
    Human Genome Epidemiology (HuGE) Navigator: SETDB2 (3 documents)

    Export disorders for SETDB2 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 SETDB2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with SETDB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of CLLD6, CLLD7, and CLLD8, novel candidate genes for leukemogenesis at chromosome 13q14, a region commonly deleted in B-cell chronic lymphocytic leukemia. (PubMed id 11306461)1, 2, 3 Mabuchi H.... Croce C.M. (2001)
    2. CLLD8/KMT1F is a lysine methyltransferase that is important for chromosome segregation. (PubMed id 20404330)1, 2 Falandry C.... Magdinier F. (2010)
    3. A multi-centre study of candidate genes for wheeze an d allergy: the International Study of Asthma and Allergies in Childhood Phase 2 . (PubMed id 20085599)1, 4 Genuneit J....Moffatt M.F. (2009)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    5. 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)
    6. Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma. (PubMed id 12754510)1, 2 Zhang Y.... Cookson W.O.C.M. (2003)
    7. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    8. Lysine methylation of HIV-1 Tat regulates transcriptional activity of the viral LTR. (PubMed id 18498648)1 Van Duyne R....Kashanchi F. (2008)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (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: 83852 HGNC: 20263 AceView: SETDB2 Ensembl:ENSG00000136169 euGenes: HUgn83852
    ECgene: SETDB2 Kegg: 83852 H-InvDB: SETDB2

    (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 SETDB2 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 SETDB2 gene:
    Search GeneIP for patents involving SETDB2

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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