SSX2

SSX2B
Identifiers
Aliases	SSX2B , CT5.2, CT5.2b, HOM-MEL-40, SSX, synovial sarcoma, X breakpoint 2B, SSX family member 2B
External IDs	HomoloGene: 133226 GeneCards: SSX2B
Gene location (Human)
Chr.	X chromosome (human)
End	52,790,305 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; blood; ; renal cortex; ; human musculoskeletal system; ; muscle of leg; ; gastrocnemius muscle; ; left ventricle; ; pancreas;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ; transcription corepressor activity ; nucleic acid binding ;
Cellular component	intracellular anatomical structure ; nucleus ;
Biological process	negative regulation of nucleic acid-templated transcription ; regulation of transcription, DNA-templated ; transcription, DNA-templated ;
	Sources:Amigo / QuickGO
Orthologs
	727837
	n/a
	ENSG00000268447
	n/a
	Q16385
	n/a
	NM_001278702 ; NM_001164417 ; NM_001278701
	n/a
	NP_001157889 ; NP_001265630 ; NP_001265631
	n/a
	Wikidata
View/Edit Human

Last updated August 19, 2023

Protein SSX2 is a protein that in humans is encoded by the SSX2 gene.^[3]^[4]

The product of this gene belongs to the family of highly homologous synovial sarcoma, X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) chromosomal translocation characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are probably responsible for transforming activity. Two transcript variants encoding distinct isoforms have been identified for this gene.^[4]

Related Research Articles

A synovial sarcoma is a rare form of cancer which occurs primarily in the extremities of the arms or legs, often in proximity to joint capsules and tendon sheaths. It is a type of soft-tissue sarcoma.

A fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation, interstitial deletion, or chromosomal inversion. Fusion genes have been found to be prevalent in all main types of human neoplasia. The identification of these fusion genes play a prominent role in being a diagnostic and prognostic marker.

Ectopic is a word used with a prefix, ecto, meaning “out of place.” Ectopic expression is an abnormal gene expression in a cell type, tissue type, or developmental stage in which the gene is not usually expressed. The term ectopic expression is predominantly used in studies using metazoans, especially in Drosophila melanogaster for research purposes.

Friend leukemia integration 1 transcription factor (FLI1), also known as transcription factor ERGB, is a protein that in humans is encoded by the FLI1 gene, which is a proto-oncogene.

Cyclic AMP-dependent transcription factor ATF-1 is a protein that in humans is encoded by the ATF1 gene.

RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22, specifically 22q12.2. It is one of 3 proteins in the FET protein family. The q22.2 region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see and the FET protein family. The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing Ewing sarcoma and other members of the Ewing family of tumors. These translocations can occur due to chromoplexy, a burst of complex chromosomal rearrangements seen in cancer cells. The normal EWS gene encodes an RNA binding protein closely related to FUS (gene) and TAF15, all of which have been associated to amyotrophic lateral sclerosis.

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.

ERG is an oncogene. ERG is a member of the ETS family of transcription factors. The ERG gene encodes for a protein, also called ERG, that functions as a transcriptional regulator. Genes in the ETS family regulate embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis.

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

Protein SSXT is a protein that in humans is encoded by the SS18 gene.

Nuclear protein 1 is a protein that in humans is encoded by the NUPR1 gene.

Protein SSX1 is a protein that in humans is encoded by the SSX1 gene.

40S ribosomal protein S30 is a protein that in humans is encoded by the FAU gene.

Afadin- and alpha-actinin-binding protein is a protein that in humans is encoded by the SSX2IP gene. It has been shown that it functions together with WDR8 in centrosome maturation, ensuring proper spindle length and orientation. The SSX2IP-WDR8 complex additionally promotes ciliary vesicle docking during ciliogenesis.

Protein SSX4 is a protein that in humans is encoded by the SSX4 gene.

SS18-like protein 1 is a protein that in humans is encoded by the SS18L1 gene.

Protein SSX5 is a protein that in humans is encoded by the SSX5 gene.

Zinc finger protein 41 is a protein that in humans is encoded by the ZNF41 gene.

Synovial sarcoma, X breakpoint (SSX) refers to a group of genes rearranged in synovial sarcoma.

EWS/FLI1 is an oncogenic protein that is pathognomonic for Ewing sarcoma. It is found in approximately 90% of all Ewing sarcoma tumors with the remaining 10% of fusions substituting one fusion partner with a closely related family member.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000268447 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Tureci O, Sahin U, Schobert I, Koslowski M, Scmitt H, Schild HJ, Stenner F, Seitz G, Rammensee HG, Pfreundschuh M (Nov 1996). "The SSX-2 gene, which is involved in the t(X;18) translocation of synovial sarcomas, codes for the human tumor antigen HOM-MEL-40". Cancer Res. 56 (20): 4766–72. PMID 8840996.
1 2 "Entrez Gene: SSX2 synovial sarcoma, X breakpoint 2".

Wu LQ, Lu Y, Wang XF, et al. (2006). "Expression of cancer-testis antigen (CTA) in tumor tissues and peripheral blood of Chinese patients with hepatocellular carcinoma". Life Sci. 79 (8): 744–8. doi:10.1016/j.lfs.2006.02.024. PMID 16546222.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501 . PMID 16381901.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Fernebro J, Francis P, Edén P, et al. (2006). "Gene expression profiles relate to SS18/SSX fusion type in synovial sarcoma". Int. J. Cancer. 118 (5): 1165–72. doi: 10.1002/ijc.21475 . PMID 16152617.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286 . PMID 15772651.
Tvrdík D, Povýsil C, Svatosová J, Dundr P (2005). "Molecular diagnosis of synovial sarcoma: RT-PCR detection of SYT-SSX1/2 fusion transcripts in paraffin-embedded tissue". Med. Sci. Monit. 11 (3): MT1–7. PMID 15735574.
Ayyoub M, Merlo A, Hesdorffer CS, et al. (2005). "Distinct but overlapping T helper epitopes in the 37-58 region of SSX-2". Clin. Immunol. 114 (1): 70–8. doi:10.1016/j.clim.2004.08.014. PMID 15596411.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930 . PMID 15489336.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Güre AO, Wei IJ, Old LJ, Chen YT (2002). "The SSX gene family: characterization of 9 complete genes". Int. J. Cancer. 101 (5): 448–53. doi: 10.1002/ijc.10634 . PMID 12216073. S2CID 21174312.
Yang K, Lui WO, Xie Y, et al. (2002). "Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas". Oncogene. 21 (26): 4181–90. doi:10.1038/sj.onc.1205569. PMID 12037676.
de Bruijn DR, dos Santos NR, Kater-Baats E, et al. (2002). "The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP". Genes Chromosomes Cancer. 34 (3): 285–98. doi:10.1002/gcc.10073. PMID 12007189. S2CID 11734893.
Brodin B, Haslam K, Yang K, et al. (2001). "Cloning and characterization of spliced fusion transcript variants of synovial sarcoma: SYT/SSX4, SYT/SSX4v, and SYT/SSX2v. Possible regulatory role of the fusion gene product in wild type SYT expression". Gene. 268 (1–2): 173–82. doi:10.1016/S0378-1119(01)00412-7. PMID 11368913.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732 . PMID 11256614.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948 . PMID 11076863.
dos Santos NR, Torensma R, de Vries TJ, et al. (2000). "Heterogeneous expression of the SSX cancer/testis antigens in human melanoma lesions and cell lines". Cancer Res. 60 (6): 1654–62. PMID 10749136.
dos Santos NR, de Bruijn DR, Balemans M, et al. (1998). "Nuclear localization of SYT, SSX and the synovial sarcoma-associated SYT-SSX fusion proteins". Hum. Mol. Genet. 6 (9): 1549–58. doi: 10.1093/hmg/6.9.1549 . PMID 9285793.
Shipley JM, Clark J, Crew AJ, et al. (1994). "The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome". Oncogene. 9 (5): 1447–53. PMID 8152806.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000268447 - Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8840996-3] Tureci O, Sahin U, Schobert I, Koslowski M, Scmitt H, Schild HJ, Stenner F, Seitz G, Rammensee HG, Pfreundschuh M (Nov 1996). "The SSX-2 gene, which is involved in the t(X;18) translocation of synovial sarcomas, codes for the human tumor antigen HOM-MEL-40". Cancer Res. 56 (20): 4766–72. PMID 8840996.

[entrez-4] 1 2 "Entrez Gene: SSX2 synovial sarcoma, X breakpoint 2".

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SSX2

Related Research Articles

References

Further reading