SUZ12
Developmental stage
Expressed at low levels in quiescent cells. Expression rises at the G1/S phase transition.
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:15385962, PubMed:16618801, PubMed:17344414, PubMed:18285464, PubMed:28229514, PubMed:29499137, PubMed:31959557). The PRC2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (PubMed:12351676, PubMed:12435631, PubMed:15099518, PubMed:15225548, PubMed:15385962, PubMed:15684044, PubMed:16431907, PubMed:18086877, PubMed:18285464). Genes repressed by the PRC2 complex include HOXC8, HOXA9, MYT1 and CDKN2A (PubMed:15231737, PubMed:16618801, PubMed:17200670, PubMed:31959557).
Involvement in disease
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.
Imagawa-Matsumoto syndrome
IMMAS
An autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Sumoylated, probably by PIAS2.
Sequence Similarities
Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family.
Tissue Specificity
Overexpressed in breast and colon cancer.
Cellular localization
- Nucleus
- Localizes to chromatin as part of the PRC2 complex.
Alternative names
CHET9, JJAZ1, KIAA0160, SUZ12, Polycomb protein SUZ12, Chromatin precipitated E2F target 9 protein, Joined to JAZF1 protein, Suppressor of zeste 12 protein homolog, ChET 9 protein