| Description | 739 amino acids |
| Expression | tissue and stage specifically expressed; expression is noted in embryonic, juvenile and adult tissues. The tissues or organs that express SUZ12 are: bladder, blood, bone, bone marrow, brain, cervix, colon, eye, heart, kidney, liver, lung, lymph node, mammary gland, muscle, ovary, pancreas, peripheral nervous system, placenta, prostate, skin, soft tissue, stomach, tongue, testis, uterus, and the vascular system. |
| Localisation | nucleus |
| Function | SUZ12 is a zinc finger protein and member of the polycomb group (PcG) protein family. They act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are required to maintain the repression during later stages of development. They probably act via the methylation of histones, rendering chromatin heritably changed in its expressibility. SUZ12 is a component of the PRC2 complex, which methylates Lys-9 and Lys-27 residues of histone H3. SUZ12 is induced by E2F1 transcription factor. |
| Homology | Polycomb group of proteins |
| JAZF1/JJAZ1 gene fusion in endometrial stromal sarcomas: molecular analysis by reverse transcriptase-polymerase chain reaction optimized for paraffin-embedded tissue. |
| Hrzenjak A, Moinfar F, Tavassoli FA, Strohmeier B, Kremser ML, Zatloukal K, Denk H |
| The Journal of molecular diagnostics : JMD. 2005 ; 7 (3) : 388-395. |
| PMID 16049311 |
| |
| Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity. |
| Huang HY, Ladanyi M, Soslow RA |
| The American journal of surgical pathology. 2004 ; 28 (2) : 224-232. |
| PMID 15043312 |
| |
| High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. |
| Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF |
| American journal of human genetics. 2004 ; 75 (3) : 410-423. |
| PMID 15257518 |
| |
| Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors. |
| Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Cin PD, Fletcher JA, Sklar J |
| Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (11) : 6348-6353. |
| PMID 11371647 |
| |
| Cytogenetic and molecular genetic analyses of endometrial stromal sarcoma: nonrandom involvement of chromosome arms 6p and 7p and confirmation of JAZF1/JJAZ1 gene fusion in t(7;17). |
| Micci F, Walter CU, Teixeira MR, Panagopoulos I, Bjerkehagen B, Saeter G, Heim S |
| Cancer genetics and cytogenetics. 2003 ; 144 (2) : 119-124. |
| PMID 12850374 |
| |
| Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations. |
| Petek E, Jenne DE, Smolle J, Binder B, Lasinger W, Windpassinger C, Wagner K, Kroisel PM, Kehrer-Sawatzki H |
| Journal of medical genetics. 2003 ; 40 (7) : 520-525. |
| PMID 12843325 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | SUZ12 17101 |
| Cards |
|---|
| Atlas | JJAZ1ID41039ch17q11 |
| Entrez_Gene (NCBI) | SUZ12 23512 SUZ12 polycomb repressive complex 2 subunit |
| Aliases | CHET9; JJAZ1 |
| GeneCards (Weizmann) | SUZ12 |
| Ensembl hg19 (Hinxton) | ENSG00000178691 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000178691 [Gene_View] chr17:31937010-32001045 [Contig_View] SUZ12 [Vega] |
| ICGC DataPortal | ENSG00000178691 |
| TCGA cBioPortal | SUZ12 |
| AceView (NCBI) | SUZ12 |
| Genatlas (Paris) | SUZ12 |
| WikiGenes | 23512 |
| SOURCE (Princeton) | SUZ12 |
| Genetics Home Reference (NIH) | SUZ12 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SUZ12 - chr17:31937010-32001045 + 17q11.2 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SUZ12 - 17q11.2 [Description] (hg19-Feb_2009) |
| Ensembl | SUZ12 - 17q11.2 [CytoView hg19] SUZ12 - 17q11.2 [CytoView hg38] |
| Mapping of homologs : NCBI | SUZ12 [Mapview hg19] SUZ12 [Mapview hg38] |
| OMIM | 606245 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK074333 AK290014 BC015704 BC018583 BI668506 |
| RefSeq transcript (Entrez) | NM_001321207 NM_015355 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | SUZ12 |
| Cluster EST : Unigene | Hs.462732 [ NCBI ] |
| CGAP (NCI) | Hs.462732 |
| Alternative Splicing Gallery | ENSG00000178691 |
| Gene Expression | SUZ12 [ NCBI-GEO ] SUZ12 [ EBI - ARRAY_EXPRESS ]
SUZ12 [ SEEK ] SUZ12 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | SUZ12 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 23512 |
| GTEX Portal (Tissue expression) | SUZ12 |
| Human Protein Atlas | ENSG00000178691-SUZ12 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q15022 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q15022 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q15022 |
| Splice isoforms : SwissVar | Q15022 |
| PhosPhoSitePlus | Q15022 |
| Domaine pattern : Prosite (Expaxy) | ZINC_FINGER_C2H2_1 (PS00028) |
| Domains : Interpro (EBI) | Polycomb_protein_VEFS-Box |
| Domain families : Pfam (Sanger) | VEFS-Box (PF09733) |
| Domain families : Pfam (NCBI) | pfam09733 |
| Conserved Domain (NCBI) | SUZ12 |
| DMDM Disease mutations | 23512 |
| Blocks (Seattle) | SUZ12 |
| PDB (SRS) | 5HYN 5IJ7 5IJ8 |
| PDB (PDBSum) | 5HYN 5IJ7 5IJ8 |
| PDB (IMB) | 5HYN 5IJ7 5IJ8 |
| PDB (RSDB) | 5HYN 5IJ7 5IJ8 |
| Structural Biology KnowledgeBase | 5HYN 5IJ7 5IJ8 |
| SCOP (Structural Classification of Proteins) | 5HYN 5IJ7 5IJ8 |
| CATH (Classification of proteins structures) | 5HYN 5IJ7 5IJ8 |
| Superfamily | Q15022 |
| Human Protein Atlas [tissue] | ENSG00000178691-SUZ12 [tissue] |
| Peptide Atlas | Q15022 |
| HPRD | 06949 |
| IPI | IPI00299526 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q15022 |
| IntAct (EBI) | Q15022 |
| FunCoup | ENSG00000178691 |
| BioGRID | SUZ12 |
| STRING (EMBL) | SUZ12 |
| ZODIAC | SUZ12 |
| Ontologies - Pathways |
|---|
| QuickGO | Q15022 |
| Ontology : AmiGO | negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter sequence-specific DNA binding sex chromatin RNA binding protein binding nucleus nucleoplasm nucleolus transcription, DNA-templated regulation of transcription, DNA-templated positive regulation of cell proliferation histone ubiquitination RSC complex nuclear body chromatin DNA binding protein-DNA complex methylated histone binding ESC/E(Z) complex ESC/E(Z) complex histone methyltransferase activity histone methyltransferase activity negative regulation of cell differentiation negative regulation of gene expression, epigenetic metal ion binding histone methyltransferase activity (H3-K27 specific) histone H3-K27 methylation promoter-specific chromatin binding |
| Ontology : EGO-EBI | negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter sequence-specific DNA binding sex chromatin RNA binding protein binding nucleus nucleoplasm nucleolus transcription, DNA-templated regulation of transcription, DNA-templated positive regulation of cell proliferation histone ubiquitination RSC complex nuclear body chromatin DNA binding protein-DNA complex methylated histone binding ESC/E(Z) complex ESC/E(Z) complex histone methyltransferase activity histone methyltransferase activity negative regulation of cell differentiation negative regulation of gene expression, epigenetic metal ion binding histone methyltransferase activity (H3-K27 specific) histone H3-K27 methylation promoter-specific chromatin binding |
| Pathways : BIOCARTA | The PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes] |
| REACTOME | Q15022 [protein] |
| REACTOME Pathways | R-HSA-5617472 [pathway] |
| NDEx Network | SUZ12 |
| Atlas of Cancer Signalling Network | SUZ12 |
| Wikipedia pathways | SUZ12 |
| Orthology - Evolution |
|---|
| OrthoDB | 23512 |
| GeneTree (enSembl) | ENSG00000178691 |
| Phylogenetic Trees/Animal Genes : TreeFam | SUZ12 |
| HOVERGEN | Q15022 |
| HOGENOM | Q15022 |
| Homologs : HomoloGene | SUZ12 |
| Homology/Alignments : Family Browser (UCSC) | SUZ12 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | JAZF1/SUZ12 [7p15.2/17q11.2] [t(7;17)(p15;q11)] |
| Fusion : COSMIC | JAZF1 [7p15.2] - SUZ12 [17q11.2] [fusion_568] [fusion_569] [fusion_570] |
| Fusion : COSMIC | SSH2 [17q11.2] - SUZ12 [17q11.2] [fusion_722] [fusion_723] |
| Fusion : TICdb | JAZF1 [7p15.2] - SUZ12 [17q11.2] |
| Fusion Cancer (Beijing) | AD_1 [SUZ12] - 17q11.2 [FUSC000339] |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SUZ12 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SUZ12 |
| dbVar | SUZ12 |
| ClinVar | SUZ12 |
| 1000_Genomes | SUZ12 |
| Exome Variant Server | SUZ12 |
| ExAC (Exome Aggregation Consortium) | ENSG00000178691 |
| GNOMAD Browser | ENSG00000178691 |
| Genetic variants : HAPMAP | 23512 |
| Genomic Variants (DGV) | SUZ12 [DGVbeta] |
| DECIPHER | SUZ12 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SUZ12 |
| Mutations |
|---|
| ICGC Data Portal | SUZ12 |
| TCGA Data Portal | SUZ12 |
| Broad Tumor Portal | SUZ12 |
| OASIS Portal | SUZ12 [ Somatic mutations - Copy number] |
| Cancer Gene: Census | SUZ12 |
| Somatic Mutations in Cancer : COSMIC | SUZ12 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SUZ12 |
| intOGen Portal | SUZ12 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| BioMuta | search SUZ12 |
| DgiDB (Drug Gene Interaction Database) | SUZ12 |
| DoCM (Curated mutations) | SUZ12 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | SUZ12 (select a term) |
| intoGen | SUZ12 |
| NCG5 (London) | SUZ12 |
| Cancer3D | SUZ12(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 606245 |
| Orphanet | 18760 |
| Medgen | SUZ12 |
| Genetic Testing Registry | SUZ12
|
| NextProt | Q15022 [Medical] |
| TSGene | 23512 |
| GENETests | SUZ12 |
| Target Validation | SUZ12 |
| Huge Navigator |
SUZ12 [HugePedia] |
| snp3D : Map Gene to Disease | 23512 |
| BioCentury BCIQ | SUZ12 |
| ClinGen | SUZ12 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 23512 |
| Chemical/Pharm GKB Gene | PA134936035 |
| Clinical trial | SUZ12 |
| Miscellaneous |
|---|
| canSAR (ICR) | SUZ12 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 127 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SUZ12 |
| EVEX | SUZ12 |
| GoPubMed | SUZ12 |
| iHOP | SUZ12 |
