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    SSX2 SSX family member 2 [ Homo sapiens (human) ]

    Gene ID: 6757, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SSX2provided by HGNC
    Official Full Name
    SSX family member 2provided by HGNC
    Primary source
    HGNC:HGNC:11336
    See related
    Ensembl:ENSG00000241476 MIM:300192; AllianceGenome:HGNC:11336
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SSX; HD21; CT5.2; CT5.2A; HOM-MEL-40
    Summary
    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 spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX1 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are 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 likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. This gene also has an identical duplicate, GeneID: 727837, located about 45 kb downstream in the opposite orientation on chromosome X. [provided by RefSeq, Jul 2013]
    Expression
    Restricted expression toward testis (RPKM 18.4) See more
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    Genomic context

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    See SSX2 in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (52696896..52707227, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (51981730..51992075, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (52725946..52736277, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SSX family member 15, pseudogene Neighboring gene S100A11 pseudogene 10 Neighboring gene ornithine aminotransferase pseudogene Neighboring gene ornithine aminotransferase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Downstream and intermediate interactions of synovial sarcoma-associated fusion oncoproteins and their implication for targeted therapy. Przybyl J, et al. Sarcoma, 2012. PMID 22550415, Free PMC Article
    2. EBV-transformed lymphoblastoid cell lines as vaccines against cancer testis antigen-positive tumors. Neumann F, et al. Cancer Immunol Immunother, 2013 Jul. PMID 23619976, Free PMC Article
    3. A functional genetic screen identifies the Mediator complex as essential for SSX2-induced senescence. Brückmann NH, et al. Cell Death Dis, 2019 Nov 6. PMID 31695025, Free PMC Article
    4. Identification of target genes of synovial sarcoma-associated fusion oncoprotein using human pluripotent stem cells. Hayakawa K, et al. Biochem Biophys Res Commun, 2013 Mar 22. PMID 23313505
    5. 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. Türeci O, et al. Cancer Res, 1996 Oct 15. PMID 8840996

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A functional genetic screen identifies the Mediator complex as essential for SSX2-induced senescence.
      Title: A functional genetic screen identifies the Mediator complex as essential for SSX2-induced senescence.
    2. co-expression of and interplay between Rab3IP and SSX2 during gastric cancer progression
      Title: Rab3IP interacts with SSX2 and enhances the invasiveness of gastric cancer cells.
    3. We conclude from these findings that SSX2 expression in prostate cancer is not a driver of the epithelial to mesenchymal transition (EMT), but is involved in processes associated with EMT including loss of focal adhesion that may be related to tumor cell dissemination
      Title: SSX2 regulates focal adhesion but does not drive the epithelial to mesenchymal transition in prostate cancer.
    4. Meta-analysis of human synovial sarcoma patient series identified two tumor-gentoype-phenotype correlations that were not modeled by the mice, namely a scarcity of male hosts and biphasic histologic features among SS18-SSX2 tumors. Re-analysis of human SS18-SSX1 and SS18-SSX2 tumor transcriptomes demonstrated very few consistent differences, but highlighted increased native SSX2 expression in SS18-SSX1 tumors.
      Title: The impact of chromosomal translocation locus and fusion oncogene coding sequence in synovial sarcomagenesis.
    5. results reveal two important phenotypes of ectopic SSX2 expression that may drive/support tumorigenesis: First, immediate induction of genomic instability, and second, long-term support of tumor cell growth.
      Title: Ectopic expression of cancer/testis antigen SSX2 induces DNA damage and promotes genomic instability.
    6. The tumor-specific pattern of expression of SSX2.
      Title: Development of a T cell receptor targeting an HLA-A*0201 restricted epitope from the cancer-testis antigen SSX2 for adoptive immunotherapy of cancer.
    7. primary autoantibodies against intracellular MM-specific tumor antigens SSX-2 and NY-ESO-1 are rare but functional in multiple myeloma patients after allogeneic stem cell transplantation
      Title: Functional autoantibodies against SSX-2 and NY-ESO-1 in multiple myeloma patients after allogeneic stem cell transplantation.
    8. SS18-SSX-induced Wnt/beta-catenin signaling appears to be of crucial biological importance in synovial sarcoma tumorigenesis and progression.
      Title: SS18-SSX fusion protein-induced Wnt/β-catenin signaling is a therapeutic target in synovial sarcoma.
    9. SSX2, SSX3, and SSX4 are expressed in the lung tissue of only 3.5% early-stage non-small cell lung cancer patients.
      Title: SSX2-4 expression in early-stage non-small cell lung cancer.
    10. These results suggest that the characteristic speckle localization pattern of SS18-SSX is strongly involved in the tumorigenesis through the SSX moiety of the SS18-SSX fusion protein.
      Title: Truncated SSX protein suppresses synovial sarcoma cell proliferation by inhibiting the localization of SS18-SSX fusion protein.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Synovial sarcoma
    MedGen: C0039101 OMIM: 300813 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3884, MGC15364, MGC119055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein SSX2
    Names
    cancer/testis antigen 5.2
    cancer/testis antigen family 5, member 2a
    sarcoma, synovial, X-chromosome-related 2
    synovial sarcoma, X breakpoint 2
    synovial sarcoma, X breakpoint 2B
    tumor antigen HOM-MEL-40

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001278697.2 → NP_001265626.1  protein SSX2 isoform c

      See identical proteins and their annotated locations for NP_001265626.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (c) contains a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC002818, BC103863, JX014236
      UniProtKB/TrEMBL
      R9QTR3
      Conserved Domains (3) summary
      cd07765
      Location:24 → 61
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box
      pfam09514
      Location:182 → 213
      SSXRD; SSXRD motif

    2. NM_003147.6 → NP_003138.3  protein SSX2 isoform a

      See identical proteins and their annotated locations for NP_003138.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC002818, BC103863
      Consensus CDS
      CCDS14345.2
      UniProtKB/Swiss-Prot
      Q16385
      Related
      ENSP00000338796.5, ENST00000336777.9
      Conserved Domains (1) summary
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box

    3. NM_175698.4 → NP_783629.1  protein SSX2 isoform b

      See identical proteins and their annotated locations for NP_783629.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon which results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) contains a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC244505, AL450023
      Consensus CDS
      CCDS14344.2
      UniProtKB/Swiss-Prot
      Q16385, Q5JS26, Q96IP7, Q9BU88
      Related
      ENSP00000338561.5, ENST00000337502.6
      Conserved Domains (3) summary
      cd07765
      Location:24 → 61
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box
      pfam09514
      Location:156 → 187
      SSXRD; SSXRD motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      52696896..52707227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      51981730..51992075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16385.2 GenPept UniProtKB/Swiss-Prot:Q16385

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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