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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SUZ12
SUZ12 polycomb repressive complex 2 subunit
Chromosome 17 Β· 17q11.2
NCBI Gene: 23512Ensembl: ENSG00000178691.12HGNC: HGNC:17101UniProt: J3QQW9
261PubMed Papers
21Diseases
0Drugs
32Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneOncogeneTranscription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of cell differentiationtranscription corepressor bindingnucleushistone H3K9me2/3 reader activityImagawa-Matsumoto syndromegenetic disorderprostate adenocarcinomaviral disease
✦AI Summary

SUZ12 encodes a core subunit of Polycomb Repressive Complex 2 (PRC2), which functions as a critical epigenetic regulator by methylating histone H3 at lysines 9 and 27 (H3K9me and H3K27me3), leading to transcriptional repression of target genes 1. The protein serves as a scaffold that enables assembly of distinct histone modification complexes, coordinating chr17 remodeling activities 1. SUZ12 plays essential roles in controlling developmental timing by maintaining chr17 bivalency at developmental gene promoters - loss of SUZ12 function accelerates cell fate acquisition by shifting the balance between activating H3K4me3 and repressive H3K27me3 marks 2. SUZ12 can translocate from mitochondria to nucleus where it interacts with other PRC2 components to regulate gene expression pathways including STAT3 signaling 3. Germline heterozygous variants in SUZ12 cause Imagawa-Matsumoto syndrome, characterized by overgrowth and dysmorphic features 4. In cancer, SUZ12 alterations contribute to malignant progression - fusion proteins like JAZF1-SUZ12 dysregulate PRC2 function in endometrial stromal sarcomas 5, while SUZ12 mutations in malignant peripheral nerve sheath tumors lead to loss of H3K27 trimethylation 6. These findings establish SUZ12 as a crucial regulator of development, differentiation, and tumorigenesis through chr17-mediated gene silencing.

Sources cited
1
SUZ12 serves as scaffold for histone modification complexes including PRC2 for H3K27 methylation
PMID: 20616235
2
SUZ12 modulates developmental timing by regulating chromatin bivalency and cell fate acquisition speed
PMID: 40897805
3
SUZ12 can translocate from mitochondria to nucleus and interact with PRC2 components to regulate STAT3 signaling
PMID: 39113711
4
Germline SUZ12 variants cause Imagawa-Matsumoto syndrome with overgrowth and dysmorphic features
PMID: 36645289
5
JAZF1-SUZ12 fusion dysregulates PRC2 function and gene expression in endometrial stromal sarcomas
PMID: 35649353
6
SUZ12 mutations in malignant peripheral nerve sheath tumors lead to loss of H3K27 trimethylation
PMID: 32796172
Disease Associationsβ“˜21
Imagawa-Matsumoto syndromeOpen Targets
0.78Strong
genetic disorderOpen Targets
0.49Moderate
prostate adenocarcinomaOpen Targets
0.49Moderate
viral diseaseOpen Targets
0.46Moderate
melanomaOpen Targets
0.46Moderate
breast carcinomaOpen Targets
0.45Moderate
cancerOpen Targets
0.43Moderate
Weaver syndromeOpen Targets
0.40Moderate
T-cell acute lymphoblastic leukemiaOpen Targets
0.38Weak
endometrial stromal sarcomaOpen Targets
0.38Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
Endometrial Stromal NoduleOpen Targets
0.37Weak
ovarian sex cord-stromal tumorOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
Imagawa-Matsumoto syndromeUniProt
Pathogenic Variants32
NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs)Pathogenic
not provided|Imagawa-Matsumoto syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 415
NM_015355.4(SUZ12):c.856C>T (p.Arg286Ter)Pathogenic
SUZ12-related disorder|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 286
NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter)Pathogenic
Inborn genetic diseases|Imagawa-Matsumoto syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 121
NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs)Pathogenic
not provided|Imagawa-Matsumoto syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 117
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)Pathogenic
not provided|Acute megakaryoblastic leukemia in down syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 385
NM_015355.4(SUZ12):c.917+3081_956delLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_015355.4(SUZ12):c.588_591del (p.Lys197fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 197
NM_015355.4(SUZ12):c.1603C>T (p.Arg535Ter)Likely pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 535
NM_015355.4(SUZ12):c.1828G>C (p.Glu610Gln)Pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 610
NM_015355.4(SUZ12):c.1159C>T (p.Gln387Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 387
NM_015355.4(SUZ12):c.1023+1G>CPathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_015355.4(SUZ12):c.988A>T (p.Lys330Ter)Likely pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 330
NM_015355.4(SUZ12):c.1891C>T (p.Gln631Ter)Pathogenic
not provided|Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 631
NM_015355.4(SUZ12):c.1049C>T (p.Ser350Phe)Likely pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 350
NM_015355.4(SUZ12):c.156C>G (p.Tyr52Ter)Pathogenic
not specified
β˜…β˜†β˜†β˜†2022β†’ Residue 52
NM_015355.4(SUZ12):c.1132dup (p.Ala378fs)Likely pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 378
NM_015355.4(SUZ12):c.586dup (p.Arg196fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 196
NM_015355.4(SUZ12):c.1979T>C (p.Leu660Pro)Likely pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2022β†’ Residue 660
NM_015355.4(SUZ12):c.386+1G>APathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2022
NM_015355.4(SUZ12):c.1437+1G>TLikely pathogenic
Imagawa-Matsumoto syndrome
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
H2AC8Protein interaction100%H2BC12Protein interaction100%BMI1Protein interaction100%PHC1Protein interaction100%PHC2Protein interaction100%EZH1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
30%
Heart
25%
Lung
22%
Liver
20%
Ovary
17%
Gene Interaction Network
Click a node to explore
SUZ12H2AC8H2BC12BMI1PHC1PHC2EZH1
PROTEIN STRUCTURE
Preparing viewer…
PDB5IJ7 Β· 2.62 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.22 [0.14–0.34]
RankingsWhere SUZ12 stands among ~20K protein-coding genes
  • #1,453of 20,598
    Most Researched261 Β· top 10%
  • #1,746of 5,498
    Most Pathogenic Variants32
  • #1,496of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedSUZ12
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Neurofibromatosis type 1.
PMID: 28230061
Nat Rev Dis Primers Β· 2017
1.00
2
Diagnostic Pathology of Tumors of Peripheral Nerve.
PMID: 33588442
Neurosurgery Β· 2021
0.90
3
Genome-wide CRISPR screen identifies Menin and SUZ12 as regulators of human developmental timing.
PMID: 40897805
Nat Cell Biol Β· 2025
0.80
4
RNA-driven JAZF1-SUZ12 gene fusion in human endometrial stromal cells.
PMID: 34928964
PLoS Genet Β· 2021
0.76
5
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
PMID: 36645289
Clin Genet Β· 2023
0.70