SS18 (synovial sarcoma translocation, chromosome 18)

2006-05-01   Mamoru Ouchida 

Department of Molecular Genetics, Graduate School of Medicine, Dentistry, Pharmaceutical Sciences, Okayama University. Shikata-cho 2-5-1, Okayama 700-8558, Japan

Identity

HGNC
LOCATION
18q11.2
LOCUSID
ALIAS
SSXT,SYT
FUSION GENES

DNA/RNA

Note

Member of the SS18 family. SYT, one of the alternative gene names, has continued to be used in the literature for this gene.

Description

11 exons, spaning approximately 75 kb of genomic DNA in the telomere-to-centromere orientation on chromosome 18q11.2 The promoter region lacks CAAT and TATA boxes but contains CpG islands, suggesting that SS18 is a housekeeping gene.

Transcription

Exon 8 is spliced out with different ratio in the various tissues by alternative splicing.

Pseudogene

SS18L2 (3p21)

Proteins

Description

418 amino acids. 2 domains; the SHN domain (the SYT N-terminal homology domain) that is found in proteins from a wide variety of species ranging from plants to human, and the QPGY domain at the C-terminal part, rich in glutamine, proline, glycine and tyrosine. Four putative src-homology binding domains and two annexin-like direct repeats were exhibited in the SS18 protein. SS18 protein binds to p300, hBRM, AF10 and SIN3A proteins. The QPGY domain activates transcription when coupled to a DNA-binding domain.

Expression

Ubiquitous

Localisation

Nuclear

Function

Transcriptional coactivator

Homology

Implicated in

Entity name
Prognosis
A high grade sarcoma that leads to death in at least 25% of patients within five years of diagnosis. Prognosis may be different between the synovial sarcoma patients with SYT-SSX1 and SYT-SSX2.
Hybrid gene
SYT-SSX1, SYT-SSX2, SYT-SSX4; the exon 10 of the SS18 (SYT) gene is fused to exon 6 of the SSX genes.
Fusion protein
The last 8 amino acid residues of the SS18 (SYT) protein are replaced by 78 amino acids from the C-terminal part of SSX proteins.

Breakpoints

Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
79513201994Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma.Clark J et al
110306272000p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control of cell adhesion.Eid JE et al
154677312004SYT, a partner of SYT-SSX oncoprotein in synovial sarcomas, interacts with mSin3A, a component of histone deacetylase complex.Ito T et al
94288161998SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma.Kawai A et al
129631212003Splicing isoform of SYT-SSX fusion protein accelerates transcriptional activity and cell proliferation.Morimoto Y et al
110643572000A reverse transcriptase-polymerase chain reaction assay in the diagnosis of soft tissue sarcomas.Naito N et al
103595531999A novel fusion gene, SYT-SSX4, in synovial sarcoma.Skytting B et al
100724251999Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus.Thaete C et al
114357052001Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene.de Bruijn DR et al

Other Information

Locus ID:

NCBI: 6760
MIM: 600192
HGNC: 11340
Ensembl: ENSG00000141380

Variants:

dbSNP: 6760
ClinVar: 6760
TCGA: ENSG00000141380
COSMIC: SS18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141380ENST00000269137Q4VAX0
ENSG00000141380ENST00000269138X6R3J2
ENSG00000141380ENST00000415083Q15532
ENSG00000141380ENST00000415083A0A024RC40
ENSG00000141380ENST00000539244F5GWN1
ENSG00000141380ENST00000542420B4DLD3
ENSG00000141380ENST00000577572J3QQM2
ENSG00000141380ENST00000577636J3QQW6
ENSG00000141380ENST00000578700J3QSG1
ENSG00000141380ENST00000578954J3QS72
ENSG00000141380ENST00000579061J3KT22
ENSG00000141380ENST00000579640J3KRP6
ENSG00000141380ENST00000580642J3KRP6
ENSG00000141380ENST00000580751J3QS72
ENSG00000141380ENST00000581021J3QLJ7
ENSG00000141380ENST00000581570J3QS72
ENSG00000141380ENST00000582448J3QSB3
ENSG00000141380ENST00000582792J3QQW2
ENSG00000141380ENST00000584083J3QQX5
ENSG00000141380ENST00000585121J3KT74

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
235406912013Reversible disruption of mSWI/SNF (BAF) complexes by the SS18-SSX oncogenic fusion in synovial sarcoma.116
224427262012SS18 together with animal-specific factors defines human BAF-type SWI/SNF complexes.43
117345572002SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones.37
241664952014SS18-SSX fusion protein-induced Wnt/β-catenin signaling is a therapeutic target in synovial sarcoma.28
170186032006The synovial-sarcoma-associated SS18-SSX2 fusion protein induces epigenetic gene (de)regulation.27
164627622006The synovial sarcoma translocation protein SYT-SSX2 recruits beta-catenin to the nucleus and associates with it in an active complex.22
162474612006IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1.21
219967282012Reprogramming of mesenchymal stem cells by the synovial sarcoma-associated oncogene SYT-SSX2.21
295029552018The SS18-SSX Oncoprotein Hijacks KDM2B-PRC1.1 to Drive Synovial Sarcoma.20
161526172006Gene expression profiles relate to SS18/SSX fusion type in synovial sarcoma.18

Citation

Mamoru Ouchida

SS18 (synovial sarcoma translocation, chromosome 18)

Atlas Genet Cytogenet Oncol Haematol. 2006-05-01

Online version: http://atlasgeneticsoncology.org/gene/84/ss18