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SUZ12 Gene

protein-coding   GIFtS: 57
GCID: GC17P030264

SUZ12 Polycomb Repressive Complex 2 Subunit

(Previous name: suppressor of zeste 12 homolog (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)
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Aliases
SUZ12 Polycomb Repressive Complex 2 Subunit1 2     CHET92 3
JJAZ12 3 5     KIAA01603 5
ChET 9 Protein2 3     Suppressor Of Zeste 12 Homolog (Drosophila)1
Chromatin Precipitated E2F Target 9 Protein2 3     Polycomb Protein SUZ122
Joined To JAZF1 Protein2 3     Suppressor Of Zeste 12 Homolog2
Suppressor Of Zeste 12 Protein Homolog2 3     

External Ids:    HGNC: 171011   Entrez Gene: 235122   Ensembl: ENSG000001786917   OMIM: 6062455   UniProtKB: Q150223   

Export aliases for SUZ12 gene to outside databases

Previous GC identifer: GC17P027289


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SUZ12 Gene:
This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in
endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The
protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. (provided by
RefSeq, Jul 2009)

GeneCards Summary for SUZ12 Gene:
SUZ12 (SUZ12 polycomb repressive complex 2 subunit) is a protein-coding gene. Diseases associated with SUZ12 include 17q11 microdeletion syndrome, and endometrial stromal tumor. GO annotations related to this gene include sequence-specific DNA binding and methylated histone residue binding.

UniProtKB/Swiss-Prot: SUZ12_HUMAN, Q15022
Function: Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me)
and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The
PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two
epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A

Gene Wiki entry for SUZ12 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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SUZ12
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUZ12 promoter sequence
   Search Chromatin IP Primers for SUZ12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUZ12


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

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q21

SUZ12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUZ12 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P030264:  view genomic region     (about GC identifiers)

Start:
30,264,037 bp from pter      End:
30,328,064 bp from pter
Size:
64,028 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SUZ12_HUMAN, Q15022 (See protein sequence)
Recommended Name: Polycomb protein SUZ12  
Size: 739 amino acids; 83055 Da
Subunit: Component of the PRC2/EED-EZH2 complex, which includes EED, EZH2, SUZ12, RBBP4 and RBBP7 and possibly
AEBP2. The minimum components required for methyltransferase activity of the PRC2/EED-EZH2 complex are EED, EZH2
and SUZ12. Component of the PRC2/EED-EZH1 complex, which includes EED, EZH1, SUZ12, RBBP4 and AEBP2. The PRC2
complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12
subunit. Interacts with WDR77. Interacts with histone H1. Interacts with CDYL
Developmental stage: Expressed at low levels in quiescent cells. Expression rises at the G1/S phase transition
Miscellaneous: Under hypoxic conditions, the precursor SUZ12 RNA undergoes regulated trans-splicing with the JAZF1
RNA, resulting in a chimeric isoform which may be protective against apoptosis. The chimeric transcript is
characterized by JAZF1 exons 1-3 joined to SUZ12 exon 2-16. The chimeric transcript is expressed primarily in the
endometrium from late secretory and early proliferative phases of the menstrual cycle, but not in normal
myometrium at any phase of the cycle. Its expression is slightly induced by low levels of progesterone, but
suppressed by both estrogen and high levels of progesterone (PubMed:18772439)
Caution: Two variants of the PRC2 complex have been described, termed PRC3 and PRC4. Each of the three complexes
may include a different complement of EED isoforms, although the precise sequences of the isoforms in each
complex have not been determined. The PRC2 and PRC4 complexes may also methylate 'Lys-26' of histone H1 in
addition to 'Lys-27' of histone H3 (PubMed:15099518 and PubMed:15684044), although other studies have
demonstrated no methylation of 'Lys-26' of histone H1 by PRC2 (PubMed:16431907)
Sequence caution: Sequence=BAA09931.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q96BD9

Explore the universe of human proteins at neXtProt for SUZ12: NX_Q15022

Explore proteomics data for SUZ12 at MOPED

Post-translational modifications: 

  • Sumoylated, probably by PIAS21
  • Ubiquitination2 at Lys368, Lys375
  • Modification sites at PhosphoSitePlus

  • See SUZ12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056170.2  
    ENSEMBL proteins: 
     ENSP00000316578   ENSP00000463936  
    Reactome Protein details: Q15022

    SUZ12 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for SUZ12

    SUZ12 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SUZ12
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    SUZ12 Assay Products:

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    Cloud-Clone Corp. ELISAs for SUZ12
    Cloud-Clone Corp. CLIAs for SUZ12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZNF: Zinc fingers, C2H2-type

    2 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR019135 Polycomb_protein_VEFS-Box

    Graphical View of Domain Structure for InterPro Entry Q15022

    ProtoNet protein and cluster: Q15022

    UniProtKB/Swiss-Prot: SUZ12_HUMAN, Q15022
    Similarity: Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family
    Similarity: Contains 1 C2H2-type zinc finger


    SUZ12 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: SUZ12_HUMAN, Q15022
    Function: Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me)
    and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The
    PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two
    epigenetic repression systems. Genes repressed by the PRC2/EED-EZH2 complex include HOXC8, HOXA9, MYT1 and CDKN2A
    Induction: Expression is induced by E2F1, E2F2 and E2F3

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI17560333
    GO:0035064methylated histone residue binding IDA--
    GO:0042054histone methyltransferase activity IMP15385962
    GO:0043565sequence-specific DNA binding IEA--
         
    SUZ12 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SUZ12:
     Increased homologous recombina  Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Suz12):
     behavior/neurological  cellular  embryogenesis  growth/size/body  hematopoietic system 
     immune system  mortality/aging  nervous system  skeleton 

    SUZ12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Suz12tm1Hko for SUZ12

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SUZ12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SUZ12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUZ12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SUZ12

    miRNA
    Products:
        
    miRTarBase miRNAs that target SUZ12:
    hsa-mir-155-5p (MIRT020638), hsa-mir-21-5p (MIRT030783), hsa-let-7e-5p (MIRT051542), hsa-mir-30c-5p (MIRT047882), hsa-mir-138-5p (MIRT021690), hsa-mir-19a-3p (MIRT007118), hsa-mir-101-3p (MIRT004084), hsa-mir-375 (MIRT019780)

    Block miRNA regulation of human, mouse, rat SUZ12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUZ12 (see all 62):
    hsa-miR-607 hsa-miR-642a hsa-miR-3146 hsa-miR-429 hsa-miR-188-5p hsa-miR-15a hsa-miR-199a-3p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidSUZ12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SUZ12
    Predesigned siRNA for gene silencing in human, mouse, rat SUZ12

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for SUZ12

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    GenScript: all cDNA clones in your preferred vector: SUZ12 (NM_015355)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUZ12

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SUZ12 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUZ12


    (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
    SUZ12_HUMAN, Q15022: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001739sex chromatin IEA--
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0035098ESC/E(Z) complex IMP15385962

    SUZ12 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 SUZ12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81
    2GABA signaling in brain
    GABA signaling in brain0.32
    3Packaging Of Telomere Ends
    Histone modification0.31
    4Selected targets of Oct 3 4
    Selected targets of Oct 3 4
    5Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SUZ12
        Chromatin Regulation / Acetylation

    2 Reactome Pathways for SUZ12
        Oxidative Stress Induced Senescence
    PRC2 methylates histones and DNA



    SUZ12 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SUZ12: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SUZ12

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

    Selected Interacting proteins for SUZ12 (Q150221, 3 ENSP000003165784) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000225553O431893, ENSP000003919014I2D: score=1 STRING: ENSP00000391901
    EEDO755303, ENSP000002633604I2D: score=7 STRING: ENSP00000263360
    EZH2Q159103, ENSP000003201474I2D: score=7 STRING: ENSP00000320147
    MTF2Q9Y4833, ENSP000003593214I2D: score=5 STRING: ENSP00000359321
    RBBP4Q090283, ENSP000003625924I2D: score=4 STRING: ENSP00000362592
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0008284positive regulation of cell proliferation IEA--
    GO:0016571histone methylation ----
    GO:0016574histone ubiquitination IEA--

    SUZ12 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)
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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 SUZ12

    1 Novoseek inferred chemical compound relationship for SUZ12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 16.5 1 11371647 (1)



    SUZ12 for compounds           About GeneDecksing



    (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,
    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 SUZ12 gene: 
    NM_015355.2  

    Unigene Cluster for SUZ12:

    Suppressor of zeste 12 homolog (Drosophila)
    Hs.462732  [show with all ESTs]
    Unigene Representative Sequence: NM_015355
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322652(uc002hgs.2 uc002hgt.2) ENST00000580398 ENST00000494429
    ENST00000578106
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SUZ12 (see all 62):
    hsa-miR-607 hsa-miR-642a hsa-miR-3146 hsa-miR-429 hsa-miR-188-5p hsa-miR-15a hsa-miR-199a-3p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidSUZ12 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat SUZ12
      QuantiFast Probe-based Assays in human, mouse, rat SUZ12

    Additional mRNA sequence: 

    AK024514.1 AK074333.1 AK290014.1 BC015704.1 BC018583.1 D63881.2 

    16 DOTS entries:

    DT.100668202  DT.448332  DT.91972932  DT.120955581  DT.91741284  DT.97820937  DT.100032940  DT.100038518 
    DT.120955552  DT.120955590  DT.120955614  DT.86853104  DT.91741280  DT.91796145  DT.117872  DT.97816676 

    Selected AceView cDNA sequences (see all 225):

    BQ576113 BM676331 BM469587 AA403308 AI700794 BE552156 AI690647 BM830583 
    AI874271 BQ223020 AI539302 BM712585 BM475944 AI476816 BQ188256 AA336615 
    AL705104 BM975130 BE256205 AW468686 AI888036 AI082303 AA333912 AI378171 

    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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    SUZ12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATAGAATAT
    SUZ12 Expression
    About this image

    SUZ12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUZ12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.462732

    UniProtKB/Swiss-Prot: SUZ12_HUMAN, Q15022
    Tissue specificity: Overexpressed in breast and colon cancer

        Pathway & Disease-focused RT2 Profiler PCR Array including SUZ12: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat SUZ12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUZ12

    (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 SUZ12 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Suz121 , 5 suppressor of zeste 12 homolog (Drosophila)1, 5 92.91(n)1
    97.62(a)1
      11 (47.36 cM)5
    526151  NM_199196.21  NP_954666.11 
     799931065 
    chicken
    (Gallus gallus)
    Aves SUZ121 suppressor of zeste 12 homolog (Drosophila) 86.22(n)
    94.78(a)
      417406  XM_415658.4  XP_415658.2 
    lizard
    (Anolis carolinensis)
    Reptilia SUZ126
    SUZ12 polycomb repressive complex 2 subunit
    82(a)
    1 ↔ 1
    GL343198.1(1446010-1479682)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.84792 Xenopus laevis transcribed sequence with moderate similarity more 79.2(n)    BU909540.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM775706.12   -- 74.2(n)    BM775706.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Su(z)121 Su(z)12 49.53(n)
    45.1(a)
      48071  NM_143802.3  NP_652059.1 


    ENSEMBL Gene Tree for SUZ12 (if available)
    TreeFam Gene Tree for SUZ12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SUZ12 gene

    SUZ12 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for SUZ12
    PGOHUM00000248111 PGOHUM00000237350


    (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 SUZ12 (see all 1600)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs26271761,2
    O--26477350(-) AACTTA/GTCATC 1 -- int10--------
    rs343146191,2
    C--26482222(+) CAAAA-/AAAAAA 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1139722441,2
    C,F--26495179(+) CTCCCG/AAGTAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs803500591,2
    C,F--26496047(+) CCTGTA/GATTTC 1 -- int11Minor allele frequency- G:0.33NA 6
    rs1114326751,2
    C,F--30268411(+) GCTGGG/TGTTAC 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1115911031,2
    C,F--30268562(+) TGAGCG/CACCGT 1 -- int11Minor allele frequency- C:0.50WA 2
    rs359217281,2
    C--30268576(+) TTTTT-/TGAAAC 1 -- int11Minor allele frequency- T:0.00CSA 2
    rs99026191,2
    C,A,H--30276695(+) CCCCCC/Tttttt 1 -- int1 trp30--------
    rs677514401,2
    C--30277216(-) GGAGG-/GCTGAG 1 -- int11Minor allele frequency- G:0.00NA 2
    rs711420981,2
    C--30278795(-) GTCTCA/-AAAAA 1 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for SUZ12 (30264037 - 30328064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SUZ12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678272CNV Deletion23128226
    esv2665285CNV Deletion23128226
    nsv908065CNV Loss21882294
    nsv2025CNV Loss18451855
    nsv908067CNV Gain21882294
    nsv908066CNV Gain21882294
    dgv944e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606245    OMIM disorders: --

    UniProtKB/Swiss-Prot: SUZ12_HUMAN, Q15022
  • Note=A chromosomal aberration involving SUZ12 may be a cause of endometrial stromal tumors. Translocation
    t(7;17)(p15;q21) with JAZF1. The translocation generates the JAZF1-SUZ12 oncogene consisting of the N-terminus
    part of JAZF1 and the C-terminus part of SUZ12. It is frequently found in all cases of endometrial stromal
    tumors, except in endometrial stromal sarcomas, where it is rarer

  • Selected diseases for SUZ12 (see all 26):    About MalaCards
    17q11 microdeletion syndrome    endometrial stromal tumor    endometrial stromal sarcoma    congenital heart defect
    sarcoma    mantle cell lymphoma    acute promyelocytic leukemia    neurofibromatosis
    teratocarcinoma    wilms tumor    chronic myeloid leukemia    lung adenocarcinoma
    acute leukemia    lymphoblastic leukemia    leukemia    prostate cancer
    myeloid leukemia    prostatitis    adenocarcinoma    hepatitis b

    1 disease from the University of Copenhagen DISEASES database for SUZ12:
    Endometrial stromal sarcoma

    SUZ12 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for SUZ12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcoma endometrial stromal 76.5 1 15043312 (1)
    stromal tumors 69 2 17667554 (1), 11371647 (1), 15043312 (1)
    tumors 19.5 5 18984978 (2), 18753137 (1), 16049311 (1)


    Export disorders for SUZ12 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 SUZ12 gene, integrated from 10 sources (see all 121):
    (articles sorted by number of sources associating them with SUZ12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. (PubMed id 11371647)1, 2, 3, 9 Koontz J.I.... Sklar J. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    2. Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1. (PubMed id 8590280)1, 2, 3 Nagase T.... Nomura N. (DNA Res. 1995)
    3. The polycomb repressive complex 2 is a potential target of SUMO modifications. (PubMed id 18628979)1, 2, 9 Riising E.M.... Pasini D. (PLoS ONE 2008)
    4. A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. (PubMed id 18772439)1, 2, 9 Li H.... Sklar J. (Science 2008)
    5. Corepressor protein CDYL functions as a molecular bridge between polycomb repressor complex 2 and repressive chromatin mark trimethylated histone lysine 27. (PubMed id 22009739)1, 2 Zhang Y....Liang J. (J. Biol. Chem. 2011)
    6. Polycomb gene expression and histone H3 lysine 27 trimethylation changes during bovine preimplantation development. (PubMed id 18784248)1, 3 Ross P.J....Cibelli J.B. (Reproduction 2008)
    7. Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo. (PubMed id 18285464)1, 2 Sarma K.... Reinberg D. (Mol. Cell. Biol. 2008)
    8. Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms. (PubMed id 19026781)1, 2 Margueron R.... Reinberg D. (Mol. Cell 2008)
    9. Substrate preferences of the EZH2 histone methyltransferase complex. (PubMed id 16431907)1, 2 Martin C.... Zhang Y. (J. Biol. Chem. 2006)
    10. Association of Polycomb group SUZ12 with WD-repeat protein MEP50 that binds to histone H2A selectively in vitro. (PubMed id 16712789)1, 2 Furuno K.... Yamamoto K. (Biochem. Biophys. Res. Commun. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23512 HGNC: 17101 AceView: JJAZ1 Ensembl:ENSG00000178691 euGenes: HUgn23512
    ECgene: SUZ12 H-InvDB: SUZ12

    (According to HUGE)
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    HUGE: KIAA0160

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SUZ12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SUZ12 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for SUZ12 gene:
    Search GeneIP for patents involving SUZ12

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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