• Gene id: 23512

Gene Summary

• Gene Symbol: SUZ12   Gene   UCSC   Ensembl
• Aliases: CHET9, IMMAS, JJAZ1
• Gene name: SUZ12 polycomb repressive complex 2 subunit
• Alternate names: polycomb protein SUZ12, chET 9 protein, chromatin precipitated E2F target 9 protein, joined to JAZF1 protein, suppressor of zeste 12 protein homolog,
• Gene location: 17q11.2 (7549057: 7561600)     Exons: 11     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 606245

Protein Summary

• Protein general information: Q15022  
  • Name: Polycomb protein SUZ12 (Chromatin precipitated E2F target 9 protein) (ChET 9 protein) (Joined to JAZF1 protein) (Suppressor of zeste 12 protein homolog)
  • Length: 739  
  • Mass: 83055
  • Tissue specificity: Overexpressed in breast and colon cancer. {ECO
• Sequence:

  MAPQKHGGGGGGGSGPSAGSGGGGFGGSAAVAAATASGGKSGGGSCGGGGSYSASSSSSAAAAAGAAVLPVKKPK
  MEHVQADHELFLQAFEKPTQIYRFLRTRNLIAPIFLHRTLTYMSHRNSRTNIKRKTFKVDDMLSKVEKMKGEQES
  HSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPG
  NFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMT
  VFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAK
  PLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHC
  PWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPI
  THILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQI
  EEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMSID
  KAVTKLREMQQKLEKGESASPANEEITEEQNGTANGFSEINSKEKALETDSVSGVSKQSKKQKL

• Structural information:
  • Interpro: IPR019135  
  • Prosite: PS00028
  • PDB: 4W2R 5HYN 5IJ7 5IJ8 5LS6 5WAI 5WAK 5WG6 6B3W 6C23 6C24
  • PDBsum: 4W2R 5HYN 5IJ7 5IJ8 5LS6 5WAI 5WAK 5WG6 6B3W 6C23 6C24
  • DIP: 38524
  • STRING: ENSP00000316578
• Other Databases: GeneCards:  SUZ12  Malacards:  SUZ12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035098	ESC/E(Z) complex	IBA	cellular component
GO:0042054	histone methyltransferase activity	IBA	contributes to
GO:0031490	chromatin DNA binding	IBA	molecular function
GO:0016586	RSC-type complex	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035098	ESC/E(Z) complex	IDA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0046976	histone methyltransferase activity (H3-K27 specific)	IMP	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042054	histone methyltransferase activity	IMP	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0035098	ESC/E(Z) complex	IMP	cellular component
GO:0042054	histone methyltransferase activity	IMP	molecular function
GO:0045814	negative regulation of gene expression, epigenetic	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0070317	negative regulation of G0 to G1 transition	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0031490	chromatin DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0035098	ESC/E(Z) complex	IEA	cellular component
GO:0032993	protein-DNA complex	IEA	cellular component
GO:0016574	histone ubiquitination	IEA	biological process
GO:0016571	histone methylation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0001739	sex chromatin	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0070734	histone H3-K27 methylation	IEA	biological process
GO:0045596	negative regulation of cell differentiation	IMP	biological process
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq