SUZ12
entrez
23512
canonical
uniprot
Q15022
canonical
ensembl
ENSG00000178691
resolver
ensp
ENSP00000316578
resolver
ensp
ENSP00000463936
resolver
ensp
ENSP00000688439
resolver
enst
ENST00000322652
resolver
enst
ENST00000580398
resolver
genesymbol
SUZ12
resolver
genesymbol_syn
CHET9
resolver
genesymbol_syn
JJAZ1
resolver
genesymbol_syn
KIAA0160
resolver
hgnc
HGNC:17101
resolver
uniprot
J3QQW9
resolver
uniprot
Q96BD9
resolver
uniprot_entry
J3QQW9_HUMAN
resolver
uniprot_entry
SUZ12_HUMAN
resolver
uniprot_sec
Q96BD9
resolver
amino_acid_sequence
MAPQKHGGGGGGGSGPSAGSGGGGFGGSAAVAAATASGGKSGGGSCGGGGSYSASSSSSAAAAAGAAVLPVKKPKMEHVQADHELFLQAFEKPTQIYRFLRTRNLIAPIFLHRTLTYMSHRNSRTNIKRKTFKVDDMLSKVEKMKGEQESHSLSAHLQLTFTGFFHKNDKPSPNSENEQNSVTLEVLLVKVCHKKRKDVSCPIRQVPTGKKQVPLNPDLNQTKPGNFPSLAVSSNEFEPSNSHMVKSYSLLFRVTRPGRREFNGMINGETNENIDVNEELPARRKRNREDGEKTFVAQMTVFDKNRRLQLLDGEYEVAMQEMEECPISKKRATWETILDGKRLPPFETFSQGPTLQFTLRWTGETNDKSTAPIAKPLATRNSESLHQENKPGSVKPTQTIAVKESLTTDLQTRKEKDTPNENRQKLRIFYQFLYNNNTRQQTEARDDLHCPWCTLNCRKLYSLLKHLKLCHSRFIFNYVYHPKGARIDVSINECYDGSYAGNPQDIHRQPGFAFSRNGPVKRTPITHILVCRPKRTKASMSEFLESEDGEVEQQRTYSSGHNRLYFHSDTCLPLRPQEMEVDSEDEKDPEWLREKTITQIEEFSDVNEGEKEVMKLWNLHVMKHGFIADNQMNHACMLFVENYGQKIIKKNLCRNFMLHLVSMHDFNLISIMSIDKAVTKLREMQQKLEKGESASPANEEITEEQNGTANGFSEINSKEKALETDSVSGVSKQSKKQKL
uniprot
proteins
disease_involvement
DISEASE: Note=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. {ECO:0000269|PubMed:11371647}.; DISEASE: Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786]: 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. {ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:30019515, ECO:0000269|PubMed:31736240}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000269|PubMed:12351676, ECO:0000269|PubMed:12435631, ECO:0000269|PubMed:15099518, ECO:0000269|PubMed:15225548, ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:15385962, ECO:0000269|PubMed:15684044, ECO:0000269|PubMed:16431907, ECO:0000269|PubMed:16618801, ECO:0000269|PubMed:17200670, ECO:0000269|PubMed:17344414, ECO:0000269|PubMed:18086877, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:28229514, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.
uniprot
proteins
mass_dalton
83055
uniprot
proteins
mutagenesis
MUTAGEN 86; /note="F->A: Fails to interact with JARID2; when associated with A-90."; /evidence="ECO:0000269|PubMed:29499137"; MUTAGEN 90; /note="F->A: Fails to interact with JARID2; when associated with A-86."; /evidence="ECO:0000269|PubMed:29499137"; MUTAGEN 195..197; /note="KRK->DDD: Fails to form a PRC2.1 dimer. Reduced H3K27me3 enrichment on PRC2 target genes."; /evidence="ECO:0000269|PubMed:31959557"; MUTAGEN 196; /note="R->A: Fails to form a PRC2.1 dimer."; /evidence="ECO:0000269|PubMed:31959557"; MUTAGEN 334; /note="W->A: Fails to interact with PHF19. The PRC2.1 dimer forms but is unstable."; /evidence="ECO:0000269|PubMed:31959557"; MUTAGEN 518; /note="G->W: No effect on interaction with PHF19. The PRC2.1 dimer forms but is unstable."; /evidence="ECO:0000269|PubMed:31959557
uniprot
proteins
post_translational_modification
PTM: Sumoylated, probably by PIAS2. {ECO:0000269|PubMed:18628979}.
uniprot
proteins
protein_family
VEFS (VRN2-EMF2-FIS2-SU(Z)12) family
uniprot
proteins
pubmed
11371647
uniprot
proteins
pubmed
11564866
uniprot
proteins
pubmed
12351676
uniprot
proteins
pubmed
12435631
uniprot
proteins
pubmed
14532106
uniprot
proteins
pubmed
15099518
uniprot
proteins
pubmed
15225548
uniprot
proteins
pubmed
15231737
uniprot
proteins
pubmed
15385962
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15684044
uniprot
proteins
pubmed
16224021
uniprot
proteins
pubmed
16431907
uniprot
proteins
pubmed
16618801
uniprot
proteins
pubmed
16712789
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17200670
uniprot
proteins
pubmed
17344414
uniprot
proteins
pubmed
18086877
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18285464
uniprot
proteins
pubmed
18628979
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18772439
uniprot
proteins
pubmed
19026781
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22009739
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28229514
uniprot
proteins
pubmed
29499137
uniprot
proteins
pubmed
30019515
uniprot
proteins
pubmed
30026490
uniprot
proteins
pubmed
30923826
uniprot
proteins
pubmed
31736240
uniprot
proteins
pubmed
31959557
uniprot
proteins
pubmed
8590280
uniprot
proteins
sequence_length
739
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15231737, ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}. Note=Localizes to chromatin as part of the PRC2 complex. {ECO:0000269|PubMed:29499137, ECO:0000269|PubMed:31959557}.
uniprot
proteins