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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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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)

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

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