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] See more...

Aliases for SUZ12 Gene

Aliases for SUZ12 Gene

  • SUZ12 Polycomb Repressive Complex 2 Subunit 2 3 5
  • Chromatin Precipitated E2F Target 9 Protein 3 4
  • Suppressor Of Zeste 12 Protein Homolog 3 4
  • Joined To JAZF1 Protein 3 4
  • Polycomb Protein SUZ12 3 4
  • ChET 9 Protein 3 4
  • CHET9 3 4
  • JJAZ1 3 4
  • Suppressor Of Zeste 12 Homolog (Drosophila) 2
  • KIAA0160 4

External Ids for SUZ12 Gene

Previous GeneCards Identifiers for SUZ12 Gene

  • GC17P027289
  • GC17P030264

Summaries for SUZ12 Gene

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 Sarcoma and Weaver Syndrome. Among its related pathways are Cellular Senescence (REACTOME) and Developmental Biology. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and chromatin binding.

UniProtKB/Swiss-Prot Summary for SUZ12 Gene

  • 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

Additional gene information for SUZ12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUZ12 Gene

Genomics for SUZ12 Gene

GeneHancer (GH) Regulatory Elements for SUZ12 Gene

Promoters and enhancers for SUZ12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUZ12 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SUZ12 Gene

Genomic Locations for SUZ12 Gene
chr17:31,937,007-32,001,045
(GRCh38/hg38)
Size:
64,039 bases
Orientation:
Plus strand
chr17:30,264,037-30,328,064
(GRCh37/hg19)
Size:
64,028 bases
Orientation:
Plus strand

Genomic View for SUZ12 Gene

Genes around SUZ12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUZ12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUZ12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUZ12 Gene

Proteins for SUZ12 Gene

  • Protein details for SUZ12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15022-SUZ12_HUMAN
    Recommended name:
    Polycomb protein SUZ12
    Protein Accession:
    Q15022
    Secondary Accessions:
    • Q96BD9

    Protein attributes for SUZ12 Gene

    Size:
    739 amino acids
    Molecular mass:
    83055 Da
    Quaternary structure:
    • 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. Interacts with ARNTL/BMAL1. Interacts with EZHIP (via C-terminal region) (PubMed:30923826).
    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).
    SequenceCaution:
    • Sequence=BAA09931.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SUZ12 Gene

neXtProt entry for SUZ12 Gene

Post-translational modifications for SUZ12 Gene

Other Protein References for SUZ12 Gene

Antibody Products

  • Abcam antibodies for SUZ12
  • Boster Bio Antibodies for SUZ12
  • Santa Cruz Biotechnology (SCBT) Antibodies for SUZ12

No data available for DME Specific Peptides for SUZ12 Gene

Domains & Families for SUZ12 Gene

Gene Families for SUZ12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SUZ12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUZ12 Gene

GenScript: Design optimal peptide antigens:
  • Suppressor of zeste 12 protein homolog (SUZ12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15022

UniProtKB/Swiss-Prot:

SUZ12_HUMAN :
  • Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family.
Family:
  • Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family.
genes like me logo Genes that share domains with SUZ12: view

Function for SUZ12 Gene

Molecular function for SUZ12 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Expression is induced by E2F1, E2F2 and E2F3.

Phenotypes From GWAS Catalog for SUZ12 Gene

Gene Ontology (GO) - Molecular Function for SUZ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 17560333
GO:0031490 chromatin DNA binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with SUZ12: view
genes like me logo Genes that share phenotypes with SUZ12: view

Human Phenotype Ontology for SUZ12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SUZ12 Gene

MGI Knock Outs for SUZ12:

Animal Model Products

CRISPR Products

miRNA for SUZ12 Gene

miRTarBase miRNAs that target SUZ12

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUZ12

Clone Products

  • Addgene plasmids for SUZ12

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SUZ12 Gene

Localization for SUZ12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUZ12 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUZ12 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUZ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001739 sex chromatin IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0016586 RSC-type complex IBA 21873635
genes like me logo Genes that share ontologies with SUZ12: view

Pathways & Interactions for SUZ12 Gene

genes like me logo Genes that share pathways with SUZ12: view

SIGNOR curated interactions for SUZ12 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SUZ12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006325 chromatin organization IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0016571 histone methylation IEA --
GO:0016574 histone ubiquitination IEA --
genes like me logo Genes that share ontologies with SUZ12: view

Drugs & Compounds for SUZ12 Gene

(1) Drugs for SUZ12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SUZ12: view

Transcripts for SUZ12 Gene

mRNA/cDNA for SUZ12 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUZ12

Clone Products

  • Addgene plasmids for SUZ12

Alternative Splicing Database (ASD) splice patterns (SP) for SUZ12 Gene

No ASD Table

Relevant External Links for SUZ12 Gene

GeneLoc Exon Structure for
SUZ12
ECgene alternative splicing isoforms for
SUZ12

Expression for SUZ12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SUZ12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SUZ12 Gene

This gene is overexpressed in Adipocyte (16.2), Pancreatic juice (11.3), and Breast (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUZ12 Gene



Protein tissue co-expression partners for SUZ12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SUZ12 Gene:

SUZ12

SOURCE GeneReport for Unigene cluster for SUZ12 Gene:

Hs.462732

mRNA Expression by UniProt/SwissProt for SUZ12 Gene:

Q15022-SUZ12_HUMAN
Tissue specificity: Overexpressed in breast and colon cancer.

Evidence on tissue expression from TISSUES for SUZ12 Gene

  • Bone marrow(4.4)
  • Nervous system(2.7)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with SUZ12: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUZ12 Gene

Orthologs for SUZ12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SUZ12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUZ12 33 32
  • 99.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SUZ12 33 32
  • 96.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUZ12 33
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SUZ12 33 32
  • 95.9 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Suz12 17 33 32
  • 92.91 (n)
rat
(Rattus norvegicus)
Mammalia LOC688041 32
  • 92.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SUZ12 33
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUZ12 33 32
  • 86.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUZ12 33
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia suz12 32
  • 77.5 (n)
Str.1012 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.8479 32
zebrafish
(Danio rerio)
Actinopterygii suz12a 33
  • 73 (a)
OneToMany
suz12b 33 32
  • 71.79 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Su(z)12 33 32
  • 49.53 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 38 (a)
OneToOne
Species where no ortholog for SUZ12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SUZ12 Gene

ENSEMBL:
Gene Tree for SUZ12 (if available)
TreeFam:
Gene Tree for SUZ12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUZ12: view image

Paralogs for SUZ12 Gene

Pseudogenes.org Pseudogenes for SUZ12 Gene

genes like me logo Genes that share paralogs with SUZ12: view

No data available for Paralogs for SUZ12 Gene

Variants for SUZ12 Gene

Sequence variations from dbSNP and Humsavar for SUZ12 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1131692177 uncertain-significance, not provided, - 31,996,832(+) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1567840381 uncertain-significance, Weaver syndrome 31,996,800(+) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1242271427 pathogenic, not provided 31,995,763(+) G/A splice_donor_variant
rs1567840389 pathogenic, not provided 31,996,828(+) GG/GGG coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1011664623 uncertain-significance, not provided 31,940,281(+) C/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SUZ12 Gene

Variant ID Type Subtype PubMed ID
dgv1727e59 CNV duplication 20981092
esv2665285 CNV deletion 23128226
esv2678272 CNV deletion 23128226
esv2758684 CNV gain 17122850
esv3554316 CNV deletion 23714750
esv3640374 CNV loss 21293372
nsv1062194 CNV gain 25217958
nsv1067240 CNV gain 25217958
nsv2025 CNV deletion 18451855
nsv478295 CNV novel sequence insertion 20440878
nsv960463 CNV duplication 23825009

Variation tolerance for SUZ12 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUZ12 Gene

Human Gene Mutation Database (HGMD)
SUZ12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUZ12

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUZ12 Gene

Disorders for SUZ12 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SUZ12 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
endometrial stromal sarcoma
  • endometrial stromal sarcoma, high grade
weaver syndrome
  • wvs
atypical neurofibroma
endometrial stromal nodule
endometrial stromal tumor
  • endometrial stromal neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search SUZ12 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUZ12_HUMAN
  • 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. {ECO:0000269 PubMed:11371647}.
  • Note=Defects in EED are associated with Weaver syndrome (WVS): A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand. {ECO:0000269 PubMed:28229514}.

Additional Disease Information for SUZ12

genes like me logo Genes that share disorders with SUZ12: view

No data available for Genatlas for SUZ12 Gene

Publications for SUZ12 Gene

  1. Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. (PMID: 11371647) Koontz JI … Sklar J (Proceedings of the National Academy of Sciences of the United States of America 2001) 2 3 4 23 56
  2. The polycomb repressive complex 2 is a potential target of SUMO modifications. (PMID: 18628979) Riising EM … Pasini D (PloS one 2008) 3 4 23 56
  3. A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. (PMID: 18772439) Li H … Sklar J (Science (New York, N.Y.) 2008) 3 4 23 56
  4. 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. (PMID: 8590280) Nagase T … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1995) 2 3 4 56
  5. EZHIP / CXorf67 mimics K27M mutated oncohistones and functions as an intrinsic inhibitor of PRC2 function in aggressive posterior fossa ependymoma. (PMID: 30923826) Hübner JM … Kool M (Neuro-oncology 2019) 3 4 56

Products for SUZ12 Gene

Sources for SUZ12 Gene