protein SSX2; synovial sarcoma, X breakpoint 2; tumor antigen HOM-MEL-40; cancer/testis antigen 5.2; CT5.2 (SSX2, SSX2A, SSX2B)

Function

• could act as a modulator of transcription
• interacts via its N-terminal region with RAB3IP & SSX2IP

Structure

• belongs to the SSX family
• contains 1 KRAB-related domain

Compartment

nucleus

Alternative splicing

named isoforms=2

Expression

• expressed at high level in the testis
• expressed at low level in thyroid
• not detected in tonsil, colon, lung, spleen, prostate, kidney, striated & smooth muscles
• detected in rhabdomyosarcoma & fibrosarcoma cell lines
• not detected in mesenchymal & epithelial cell lines

Pathology

• chromosomal t(X;18)(p11.2;q11.2) involving SSX2 may be a cause of synovial sarcoma
• the translocation is specifically found in more than 80% of synovial sarcomas
• fusion products SSXT-SSX1 or SSXT-SSX2 are probably responsible for transforming activity
• heterogeneity in the position of the breakpoint can occur (low frequency)

More general terms

• SSX family protein
• nuclear protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6757
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=727837
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6757
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:727837
• OMIM: https://mirror.omim.org/entry/300192
• UniProt: http://www.uniprot.org/uniprot/Q16385.html