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

SUZ12 Gene

protein-coding   GIFtS: 55
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)
About This Section

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

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 endometrial stromal tumor, and endometrial stromal sarcoma, and among its related super-pathways are Synaptic Neurotransmission: GABAergic Inhibition and Signal transduction Activin A signaling regulation. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010799.15  NC_018928.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SUZ12
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus
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:

  • UniProtKB: Sumoylated, probably by PIAS2
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15022

  • SUZ12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SUZ12 Protein Expression
    REFSEQ proteins: NP_056170.2  
    ENSEMBL proteins: 
     ENSP00000316578   ENSP00000463936  

    Human Recombinant Protein Products for SUZ12: 
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    OriGene Protein Over-expression Lysate for SUZ12
    OriGene MassSpec for SUZ12 
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    GenScript Custom Purified and Recombinant Proteins Services for SUZ12
    Novus Biologicals SUZ12 Protein
    Novus Biologicals SUZ12 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SUZ12 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    SUZ12 for ontologies           About GeneDecksing



    SUZ12 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of SUZ12
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    Cell Signaling Technology (CST) Antibodies for SUZ12 
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    Novus Biologicals SUZ12 Antibodies
    Abcam antibodies for SUZ12
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    ThermoFisher Antibody for SUZ12
    LSBio Antibodies in human, mouse, rat for SUZ12 

    Assay Products for SUZ12: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SUZ12
    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    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,
    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: 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): 5/6 molecular function terms (GO ID links to tree view) (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  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 - Custom generated mouse model solutions for SUZ12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-101 (MIRT004084)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SUZ12
    8/62 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SUZ12
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SUZ12

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for SUZ12 (see all 8)
    OriGene ORF clones in mouse, rat for SUZ12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SUZ12 (NM_015355)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUZ12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUZ12
    Sirion Biotech Customized lentivirus for stable overexpression of SUZ12 
                         Customized lentivirus expression plasmids for stable overexpression of SUZ12 

    Cell Line
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    Search LifeMap BioReagents cell lines for SUZ12
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUZ12


    (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 SUZ12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1GABA A receptor activation
    GABA signaling in brain0.32
    2Signal transduction Activin A signaling regulation
    Histone modification0.31
    3Selected targets of Oct-3/4
    Selected targets of Oct-3/4
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for SUZ12
        Selected targets of Oct-3/4
    Histone modification
    GABA signaling in brain


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



    SUZ12 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SUZ12

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

    5/82 Interacting proteins for SUZ12 (Q150221, 3 ENSP000003165784) via UniProtKB, MINT, STRING, and/or I2D (see all 82)
    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): 5/6 biological process terms (GO ID links to tree view) (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-dependent 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 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

    SUZ12 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about SUZ12

    (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 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SUZ12
    8/62 QIAGEN miScript miRNA 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:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SUZ12
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUZ12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUZ12
    Sirion Biotech Customized lentivirus for stable overexpression of SUZ12 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SUZ12
      QIAGEN 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 

    24/225 AceView cDNA sequences (see all 225):

    AA164915 BG250029 CB069329 AI378171 AA678856 BM469587 BQ576113 BM542904 
    AW104996 BU567827 BQ935899 BG236412 BQ631743 AW630242 AI874271 BQ437791 
    AW779294 BM725323 AI690647 AW468686 BQ223020 AI700794 BM676331 BE044427 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SUZ12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SUZ12

    SOURCE GeneReport for Unigene cluster: Hs.462732

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

        SABiosciences Expression via Pathway-Focused PCR Array including SUZ12: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SUZ12 gene from 6/13 species (see all 13)    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 93.01(n)1
    97.16(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) 84.39(n)
    92.96(a)
      417406  XM_415658.3  XP_415658.2 
    lizard
    (Anolis carolinensis)
    Reptilia SUZ126
    suppressor of zeste 12 homolog (Drosophila)
    81(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 CG8013-PA 48.77(n)
    44.13(a)
      48071  NM_168826.1  NP_730465.1 


    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)
    About This Section
    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) 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

    10/1600 SNPs in SUZ12 are shown (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

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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.)
    About This Section
    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

  • 20/23 diseases for SUZ12 (see all 23):    About MalaCards
    endometrial stromal tumor    endometrial stromal sarcoma    congenital heart defect    sarcoma
    mantle cell lymphoma    acute promyelocytic leukemia    neurofibromatosis    teratocarcinoma
    wilms tumor    chronic myeloid leukemia    prostate cancer, progression of    acute leukemia
    lung adenocarcinoma    acute lymphoblastic leukemia    myeloid leukemia    lymphoblastic leukemia
    leukemia    colon cancer    adenocarcinoma    prostate cancer

    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)
    About This Section

    PubMed articles for SUZ12 gene, integrated from 9 sources (see all 119):
    (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. (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. (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. (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. (2008)
    5. 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. (2008)
    6. Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo. (PubMed id 18285464)1, 2 Sarma K....Reinberg D. (2008)
    7. Ezh1 and Ezh2 maintain repressive chromatin through different mechanisms. (PubMed id 19026781)1, 2 Margueron R.... Reinberg D. (2008)
    8. Substrate preferences of the EZH2 histone methyltransferase complex. (PubMed id 16431907)1, 2 Martin C.... Zhang Y. (2006)
    9. 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. (2006)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 23512 HGNC: 17101 AceView: JJAZ1 Ensembl:ENSG00000178691 euGenes: HUgn23512
    ECgene: SUZ12 H-InvDB: SUZ12

    (According to HUGE)
    About This Section
    HUGE: KIAA0160

    (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 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
    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



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