Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SUZ12 (joined to JAZF1)

Written2005-12Hildegard Kehrer-Sawatzki
Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081,Ulm, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_namessuppressor of zeste 12 homolog (Drosophila)
Alias_symbol (synonym)JJAZ1
KIAA0160
CHET9
HGNC (Hugo) SUZ12
LocusID (NCBI) 23512
Atlas_Id 41039
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 30264044 and ends at 30328057 bp from pter ( according to hg19-Feb_2009)  [Mapping SUZ12.png]
Fusion genes
(updated 2016)
AD_1 () / SUZ12 (17q11.2)CTSA (20q13.12) / SUZ12 (17q11.2)EFCAB5 (17q11.2) / SUZ12 (17q11.2)
JAZF1 (7p15.2) / SUZ12 (17q11.2)SSH2 (17q11.2) / SUZ12 (17q11.2)SUZ12 (17q11.2) / JAZF1 (7p15.2)
SUZ12 (17q11.2) / SUZ12 (17q11.2)

DNA/RNA

Description 16 exons; spans 64 kb;
Transcription 4,441 kb cDNA
Pseudogene yes, also located in 17q11.2, contains exons 1-9

Protein

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

Mutations

Germinal deleted in patients with Neurofibromatosis type 1 and large deletions in the NF1 gene region type-1 (spanning 1.4 Mb)
Somatic disrupted by deletion breakpoints of Neurofibromatosis type 1 patients with deletions that span 1.2 Mb (type-2 deletions). JJAZ1/SUZ12 has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma and the translocation mediated recombination of both leads to a JJAZ1/JAZF1 fusion gene.

Implicated in

Note
Entity endometrial stromal neoplasms with classic histology
Cytogenetics nonrandom t(7;17)(p15; q21) in endometrial stromal neoplasms
Hybrid/Mutated Gene JJAZ1/JAZF1 fusion gene
Abnormal Protein unknown
Oncogenesis unknown
  

Bibliography

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
 

Citation

This paper should be referenced as such :
Kehrer-Sawatzki, H
JJAZ1 (joined to JAZF1)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):149-150.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/JJAZ1ID41039ch17q11.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Uterus Tumours: an Overview


External links

Nomenclature
HGNC (Hugo)SUZ12   17101
Cards
AtlasJJAZ1ID41039ch17q11
Entrez_Gene (NCBI)SUZ12  23512  SUZ12 polycomb repressive complex 2 subunit
AliasesCHET9; JJAZ1
GeneCards (Weizmann)SUZ12
Ensembl hg19 (Hinxton)ENSG00000178691 [Gene_View]  chr17:30264044-30328057 [Contig_View]  SUZ12 [Vega]
Ensembl hg38 (Hinxton)ENSG00000178691 [Gene_View]  chr17:30264044-30328057 [Contig_View]  SUZ12 [Vega]
ICGC DataPortalENSG00000178691
TCGA cBioPortalSUZ12
AceView (NCBI)SUZ12
Genatlas (Paris)SUZ12
WikiGenes23512
SOURCE (Princeton)SUZ12
Genetics Home Reference (NIH)SUZ12
Genomic and cartography
GoldenPath hg19 (UCSC)SUZ12  -     chr17:30264044-30328057 +  17q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SUZ12  -     17q21   [Description]    (hg38-Dec_2013)
EnsemblSUZ12 - 17q21 [CytoView hg19]  SUZ12 - 17q21 [CytoView hg38]
Mapping of homologs : NCBISUZ12 [Mapview hg19]  SUZ12 [Mapview hg38]
OMIM606245   
Gene and transcription
Genbank (Entrez)AK074333 AK290014 BC015704 BC018583 BI668506
RefSeq transcript (Entrez)NM_001321207 NM_015355
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009237 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)SUZ12
Cluster EST : UnigeneHs.462732 [ NCBI ]
CGAP (NCI)Hs.462732
Alternative Splicing GalleryENSG00000178691
Gene ExpressionSUZ12 [ 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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23512
GTEX Portal (Tissue expression)SUZ12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15022   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15022  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15022
Splice isoforms : SwissVarQ15022
PhosPhoSitePlusQ15022
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)   
Domains : Interpro (EBI)Polycomb_protein_VEFS-Box    Znf_C2H2-like   
Domain families : Pfam (Sanger)VEFS-Box (PF09733)   
Domain families : Pfam (NCBI)pfam09733   
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)SUZ12
DMDM Disease mutations23512
Blocks (Seattle)SUZ12
SuperfamilyQ15022
Human Protein AtlasENSG00000178691
Peptide AtlasQ15022
HPRD06949
IPIIPI00299526   
Protein Interaction databases
DIP (DOE-UCLA)Q15022
IntAct (EBI)Q15022
FunCoupENSG00000178691
BioGRIDSUZ12
STRING (EMBL)SUZ12
ZODIACSUZ12
Ontologies - Pathways
QuickGOQ15022
Ontology : AmiGOnegative 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  positive regulation of cell proliferation  histone methylation  histone ubiquitination  chromatin DNA binding  protein-DNA complex  methylated histone binding  ESC/E(Z) complex  ESC/E(Z) complex  histone methyltransferase activity  negative regulation of cell differentiation  negative regulation of gene expression, epigenetic  metal ion binding  
Ontology : EGO-EBInegative 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  positive regulation of cell proliferation  histone methylation  histone ubiquitination  chromatin DNA binding  protein-DNA complex  methylated histone binding  ESC/E(Z) complex  ESC/E(Z) complex  histone methyltransferase activity  negative regulation of cell differentiation  negative regulation of gene expression, epigenetic  metal ion binding  
Pathways : BIOCARTAThe PRC2 Complex Sets Long-term Gene Silencing Through Modification of Histone Tails [Genes]   
REACTOMEQ15022 [protein]
REACTOME PathwaysR-HSA-2559580 Oxidative Stress Induced Senescence [pathway]
REACTOME PathwaysR-HSA-3214841 PKMTs methylate histone lysines [pathway]
REACTOME PathwaysR-HSA-212300 PRC2 methylates histones and DNA [pathway]
NDEx NetworkSUZ12
Atlas of Cancer Signalling NetworkSUZ12
Wikipedia pathwaysSUZ12
Orthology - Evolution
OrthoDB23512
GeneTree (enSembl)ENSG00000178691
Phylogenetic Trees/Animal Genes : TreeFamSUZ12
HOVERGENQ15022
HOGENOMQ15022
Homologs : HomoloGeneSUZ12
Homology/Alignments : Family Browser (UCSC)SUZ12
Gene fusions - Rearrangements
Fusion : MitelmanJAZF1/SUZ12 [7p15.2/17q11.2]  [t(7;17)(p15;q11)]  
Fusion : COSMICJAZF1 [7p15.2]  -  SUZ12 [17q11.2]  [fusion_568]  [fusion_569]  [fusion_570]  
Fusion : COSMICSSH2 [17q11.2]  -  SUZ12 [17q11.2]  [fusion_722]  [fusion_723]  
Fusion : TICdbJAZF1 [7p15.2]  -  SUZ12 [17q11.2]
Fusion Cancer (Beijing)AD_1 [SUZ12]  -  17q11.2 [FUSC000339]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSUZ12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SUZ12
dbVarSUZ12
ClinVarSUZ12
1000_GenomesSUZ12 
Exome Variant ServerSUZ12
ExAC (Exome Aggregation Consortium)SUZ12 (select the gene name)
Genetic variants : HAPMAP23512
Genomic Variants (DGV)SUZ12 [DGVbeta]
DECIPHER (Syndromes)17:30264044-30328057  ENSG00000178691
CONAN: Copy Number AnalysisSUZ12 
Mutations
ICGC Data PortalSUZ12 
TCGA Data PortalSUZ12 
Broad Tumor PortalSUZ12
OASIS PortalSUZ12 [ Somatic mutations - Copy number]
Cancer Gene: CensusSUZ12 
Somatic Mutations in Cancer : COSMICSUZ12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSUZ12
intOGen PortalSUZ12
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
BioMutasearch 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)
intoGenSUZ12
NCG5 (London)SUZ12
Cancer3DSUZ12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606245   
Orphanet18760   
MedgenSUZ12
Genetic Testing Registry SUZ12
NextProtQ15022 [Medical]
TSGene23512
GENETestsSUZ12
Huge Navigator SUZ12 [HugePedia]
snp3D : Map Gene to Disease23512
BioCentury BCIQSUZ12
ClinGenSUZ12 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23512
Chemical/Pharm GKB GenePA134936035
Clinical trialSUZ12
Miscellaneous
canSAR (ICR)SUZ12 (select the gene name)
Probes
Litterature
PubMed121 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSUZ12
EVEXSUZ12
GoPubMedSUZ12
iHOPSUZ12
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:58:40 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.