SUZ12

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 gene contains a zinc finger domain in the C terminus of the coding region.

SUZ12

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:12435631, PubMed:12351676, PubMed:15385962, PubMed:15099518, PubMed:15225548, 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).

Biological Process cell population proliferationIEA:Ensembl
Biological Process dosage compensation by inactivation of X chromosomeIEA:Ensembl
Biological Process histone ubiquitinationIEA:Ensembl
Biological Process negative regulation of cell differentiationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process negative regulation of transcription by RNA polymerase IIIEA:Ensembl
Biological Process oligodendrocyte differentiationIEA:Ensembl
Biological Process positive regulation of cell population proliferationIEA:Ensembl

Nucleus
Localizes to chromatin as part of the PRC2 complex.

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.

Sumoylated, probably by PIAS2.