SUZ12

Chr 17q11.2

SUZ12 polycomb repressive complex 2 subunit

Aliases:: JJAZ1, KIAA0160, CHET9
MANE:: ENST00000322652.10

OMIM: 606245 ↗NCBI: 23512 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SUZ12 · Q15022

v62025-08-01

Predicted Aligned Error matrix for SUZ12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.0/ 100

Confident

739 residues

Confidence breakdown

Very high(≥ 90)38%
Confident(70–90)24%
Low(50–70)8%
Very low(< 50)31%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Segmental overgrowth disorders - Deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Imagawa-Matsumoto syndrome
0.78
hereditary disease
0.50
prostate adenocarcinoma
0.49
viral infectious disease
0.46
melanoma
0.46
breast carcinoma
0.44
cancer
0.43
Weaver syndrome
0.40
endometrioid stromal sarcoma
0.38
hemangioblastoma
0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Polycomb protein 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: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)