Gene Gene information from NCBI Gene database.
Entrez ID 23512
Gene name SUZ12 polycomb repressive complex 2 subunit
Gene symbol SUZ12
Synonyms (NCBI Gene)
CHET9IMMASJJAZ1
Chromosome 17
Chromosome location 17q11.2
Summary 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 gen
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs771704089 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1131692177 A>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs1242271427 G>A Pathogenic Splice donor variant
rs1567840381 A>C Uncertain-significance, pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs1567840389 ->G Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
395
miRTarBase ID miRNA Experiments Reference
MIRT004084 hsa-miR-101-3p Western blot 19008416
MIRT007118 hsa-miR-19a-3p Luciferase reporter assay 23451058
MIRT019780 hsa-miR-375 Microarray 20215506
MIRT020638 hsa-miR-155-5p Proteomics 18668040
MIRT021690 hsa-miR-138-5p Western blot;qRT-PCR 21770894
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0001222 Function Transcription corepressor binding IPI 29628311
GO:0001739 Component Sex chromatin IEA
GO:0003682 Function Chromatin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606245 17101 ENSG00000178691
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15022
Protein name Polycomb protein SUZ12 (Chromatin precipitated E2F target 9 protein) (ChET 9 protein) (Joined to JAZF1 protein) (Suppressor of zeste 12 protein homolog)
Protein function Polycomb group (PcG) protein. Component of the PRC2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene (PubMed:15225548, PubMed:15231737, PubMed:1538
PDB 4W2R , 5HYN , 5IJ7 , 5IJ8 , 5LS6 , 5WAI , 5WAK , 5WG6 , 6B3W , 6C23 , 6C24 , 6NQ3 , 6WKR , 7AT8 , 7KSO , 7KSR , 7KTP , 7TD5 , 8EQV , 8FYH , 8T9G , 8TAS , 8TB9 , 8VMI , 8VML , 8VNV , 8VNZ , 9C8U , 9DCH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09733 VEFS-Box 546 680 VEFS-Box of polycomb protein Family
Tissue specificity TISSUE SPECIFICITY: Overexpressed in breast and colon cancer. {ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15684044}.
Sequence
MAPQKHGGGGGGGSGPSAGSGGGGFGGSAAVAAATASGGKSGGGSCGGGGSYSASSSSSA
AAAAGAAVLPVKKPKMEHVQADHELFLQAFEKPTQIYRFLRTRNLIAPIFLHRTLTYMSH
RNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQN
SVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPS
NSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMT
VFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLR
WTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPN
ENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVY
HPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASM
SEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQI
EEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHL
VSMHDFNLISIMSIDKAVTK
LREMQQKLEKGESASPANEEITEEQNGTANGFSEINSKEK
ALETDSVSGVSKQSKKQKL
Sequence length 739
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Polycomb repressive complex   PRC2 methylates histones and DNA
Oxidative Stress Induced Senescence
PKMTs methylate histone lysines
SUMOylation of chromatin organization proteins
Regulation of PTEN gene transcription
Transcriptional Regulation by E2F6
HCMV Early Events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
46
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute megakaryoblastic leukemia in down syndrome Likely pathogenic; Pathogenic rs1909527513 RCV001293761
Imagawa-Matsumoto syndrome Likely pathogenic; Pathogenic rs2142215876, rs2142222219, rs2142215091, rs2142222377, rs2142117453, rs2508662320, rs2508677290, rs2508661900, rs2508684640, rs1131692177, rs1598143986, rs1598174225, rs1598192095, rs771704089, rs1909936773
View all (1 more)
RCV001375951
RCV005635141
RCV001808266
RCV002249186
RCV002246753
RCV002284008
RCV003151930
RCV003234950
RCV004555524
RCV000495116
RCV004803212
RCV001003509
RCV001003510
RCV001003511
RCV001254135
RCV005630905
Non-immune hydrops fetalis Likely pathogenic rs2142215876 RCV002285026
SUZ12-related disorder Likely pathogenic; Pathogenic rs372162318 RCV003419132
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental disorder Uncertain significance rs2142178714 RCV001843713
IDH-wildtype glioblastoma Uncertain significance rs2508679655 RCV006254366
Neurodevelopmental disorder Uncertain significance rs1910003061 RCV002272915
Teratoma Uncertain significance rs2508693811 RCV003221384
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenosarcoma Associate 33838572
Anemia Aplastic Associate 33166403
Brain Neoplasms Associate 20920292
Breast Neoplasms Associate 16766534, 24434785
Carcinogenesis Associate 23735840, 34667274, 35649353
Carcinoma Hepatocellular Associate 18753137
Carcinoma Merkel Cell Associate 34667274
Carcinoma Non Small Cell Lung Associate 24633887, 25833694
Cardiomyopathies Associate 32620106
Cholangiocarcinoma Associate 24089088