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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SS18
SS18 subunit of BAF chromatin remodeling complex
Chromosome 18 · 18q11.2
NCBI Gene: 6760Ensembl: ENSG00000141380.14HGNC: HGNC:11340UniProt: B4DLD3
106PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription coactivator activityprotein bindingpositive regulation of transcription by RNA polymerase IISWI/SNF complexsynovial sarcomahypothyroidismrhabdomyosarcomamalignant peripheral nerve sheath tumor
✦AI Summary

SS18 is a core subunit of the BAF (SWI/SNF) chr18 remodeling complex that functions as a transcriptional coactivator, altering DNA-histone contacts within nucleosomes in an ATP-dependent manner 1. In its normal state, SS18 is a component of canonical BAF (cBAF) complexes that regulate gene expression and maintain proper cellular function 2. However, SS18 gains pathological significance through chr18 translocations, most notably the t(X;18) translocation that creates SS18-SSX fusion proteins in synovial sarcoma 34. The SS18-SSX fusion disrupts normal BAF complex function by promoting degradation of canonical cBAF complexes and forming aberrant non-canonical BAF (ncBAF) complexes 2. This fusion protein drives oncogenic transformation by bridging to Polycomb repressive complex 1 (PRC1) target genes, exploiting SSX's ability to occupy H2AK119ub1-rich chr18 regions and promoting PRC1.1 stability 5. SS18 rearrangements also occur in acute lymphoblastic leukemia, where MEF2D-SS18 fusions result in enhanced transcriptional activity and poor outcomes 6. The disruption of normal SS18 function in BAF complexes represents a major mechanism of tumor suppression, as SWI/SNF subunits are mutated in 19.6% of human tumors 1.

Sources cited
1
SS18 is a stable subunit of mammalian SWI/SNF (BAF) complexes and SWI/SNF subunits are mutated in 19.6% of human tumors
PMID: 23644491
2
Synovial sarcomas are driven by t(X;18) chromosomal translocation forming SS18:SSX fusion oncogenes
PMID: 34069748
3
SS18-SSX fusion protein binds to SWI/SNF (BAF) complex and disrupts gene expression leading to tumor initiation
PMID: 39528099
4
SS18::SSX alters BAF complexes leading to cBAF degradation and formation of SS18::SSX-containing ncBAF complexes
PMID: 38883782
5
SS18-SSX occupies H2AK119ub1-rich regions and promotes PRC1.1 complex stability
PMID: 37735617
6
MEF2D-SS18 fusions occur in acute lymphoblastic leukemia and result in enhanced transcriptional activity and poor outcomes
PMID: 27824051
Disease Associationsⓘ20
synovial sarcomaOpen Targets
0.39Weak
hypothyroidismOpen Targets
0.39Weak
rhabdomyosarcomaOpen Targets
0.37Weak
malignant peripheral nerve sheath tumorOpen Targets
0.37Weak
undifferentiated pleomorphic sarcomaOpen Targets
0.37Weak
leiomyosarcomaOpen Targets
0.37Weak
biphasic synovial sarcomaOpen Targets
0.37Weak
chordomaOpen Targets
0.37Weak
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal TumorOpen Targets
0.37Weak
monophasic synovial sarcomaOpen Targets
0.37Weak
neurofibromaOpen Targets
0.37Weak
Pleural Sarcomatoid MesotheliomaOpen Targets
0.37Weak
pleural solitary fibrous tumorOpen Targets
0.37Weak
Thyroid Gland Spindle Cell Tumor with Thymus-Like DifferentiationOpen Targets
0.37Weak
autoimmune thyroid diseaseOpen Targets
0.34Weak
thyroid diseaseOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.32Weak
enteritisOpen Targets
0.31Weak
liver diseaseOpen Targets
0.30Weak
chronic laryngitisOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPF1Protein interaction100%DPF3Protein interaction100%PHF10Protein interaction99%ARID1AProtein interaction98%ARID2Protein interaction97%ACTL6AProtein interaction97%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
94%
Liver
93%
Heart
77%
Lung
59%
Brain
50%
Gene Interaction Network
Click a node to explore
SS18DPF1DPF3PHF10ARID1AARID2ACTL6A
PROTEIN STRUCTURE
Preparing viewer…
PDB7VRB · 2.39 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.32 [0.22–0.47]
RankingsWhere SS18 stands among ~20K protein-coding genes
  • #4,502of 20,598
    Most Researched106 · top quartile
  • #2,740of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedSS18
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Synovial Sarcoma: A Clinical Review.
PMID: 34069748
Curr Oncol · 2021
1.00
2
Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia.
PMID: 27824051
Nat Commun · 2016
0.90
3
Advances of SS18-SSX fusion gene in synovial sarcoma: Emerging novel functions and therapeutic potentials.
PMID: 39528099
Biochim Biophys Acta Rev Cancer · 2024
0.80
4
Opposing immune and genetic mechanisms shape oncogenic programs in synovial sarcoma.
PMID: 33495604
Nat Med · 2021
0.70
5
Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy.
PMID: 23644491
Nat Genet · 2013
0.60