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    SSX4 SSX family member 4 [ Homo sapiens (human) ]

    Gene ID: 6759, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SSX4provided by HGNC
    Official Full Name
    SSX family member 4provided by HGNC
    Primary source
    HGNC:HGNC:11338
    See related
    Ensembl:ENSG00000268009 MIM:300326; AllianceGenome:HGNC:11338
    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
    CT5.4
    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 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) 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. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 3.3) See more
    Orthologs
    all
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    Genomic context

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    See SSX4 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48383539..48393347)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47792507..47802319)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48242980..48252789)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ornithine aminotransferase pseudogene Neighboring gene ornithine aminotransferase, mitochondrial-like Neighboring gene SSX family member 4B 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. Clinical impact of molecular and cytogenetic findings in synovial sarcoma. Panagopoulos I, et al. Genes Chromosomes Cancer, 2001 Aug. PMID 11433527
    2. A novel fusion gene, SYT-SSX4, in synovial sarcoma. Skytting B, et al. J Natl Cancer Inst, 1999 Jun 2. PMID 10359553
    3. The "melanoma-enriched" microRNA miR-4731-5p acts as a tumour suppressor. Stark MS, et al. Oncotarget, 2016 Aug 2. PMID 27331623, Free PMC Article
    4. Expression of cancer-testis antigen in multiple myeloma. He L, et al. J Huazhong Univ Sci Technolog Med Sci, 2014 Apr. PMID 24710929
    5. Effects of CT-Xp gene knock down in melanoma cell lines. Caballero OL, et al. Oncotarget, 2013 Apr. PMID 23625514, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. loss of miR-4731 expression in stage IV patient tumors supports melanoma growth by, in part, reducing its regulatory control of SSX expression levels
      Title: The "melanoma-enriched" microRNA miR-4731-5p acts as a tumour suppressor.
    2. SSX2, SSX3, and SSX4 are expressed only in 3.5% early-stage non-small cell lung cancer patients.
      Title: SSX2-4 expression in early-stage non-small cell lung cancer.
    3. The mRNA levels of SSX1 and SSX4 are associated with multiple myeloma clinical stage
      Title: Expression of cancer-testis antigen in multiple myeloma.
    4. Our results suggest that GAGE, XAGE1 and SSX4 might each have a role in melanoma progression
      Title: Effects of CT-Xp gene knock down in melanoma cell lines.
    5. we found that the SSX4 and MAGE-A3 genes are frequently expressed in brain tumor cell lines
      Title: Identification and functional characterization of glioma-specific promoters and their application in suicide gene therapy.
    6. existence of CD4+ T cells specific for multiple SSX-4 derived sequences in circulating lymphocytes from melanoma patients
      Title: CD4+ T cell responses to SSX-4 in melanoma patients.
    Submit: New GeneRIF Correction

    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

    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

    • MGC12411, MGC119056

    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein SSX4
    Names
    cancer/testis antigen 5.4
    synovial sarcoma, X breakpoint 4

    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_005636.4 → NP_005627.1  protein SSX4 isoform a

      See identical proteins and their annotated locations for NP_005627.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL606490
      Consensus CDS
      CCDS35240.1
      UniProtKB/Swiss-Prot
      A8MYD4, B2RPE3, O60224, Q3SYD4, Q5JQZ0, Q9UJU9
      Related
      ENSP00000469011.1, ENST00000595689.3
      Conserved Domains (2) summary
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box
      pfam09514
      Location:156 → 187
      SSXRD; SSXRD motif

    2. NM_175729.2 → NP_783856.1  protein SSX4 isoform b

      See identical proteins and their annotated locations for NP_783856.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the coding region which leads to a frameshift, compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AL606490
      Consensus CDS
      CCDS43934.1
      UniProtKB/Swiss-Prot
      O60224
      Related
      ENSP00000483262.1, ENST00000620320.4
      Conserved Domains (2) summary
      cd07765
      Location:24 → 61
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box

    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
      48383539..48393347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029759.2 → XP_016885248.1  protein SSX4 isoform X1

      UniProtKB/Swiss-Prot
      A8MYD4, B2RPE3, O60224, Q3SYD4, Q5JQZ0, Q9UJU9
      Conserved Domains (2) summary
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box
      pfam09514
      Location:156 → 187
      SSXRD; SSXRD motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47792507..47802319
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327625.1 → XP_054183600.1  protein SSX4 isoform X1

      UniProtKB/Swiss-Prot
      A8MYD4, B2RPE3, O60224, Q3SYD4, Q5JQZ0, Q9UJU9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60224.1 GenPept UniProtKB/Swiss-Prot:O60224

    Gene LinkOut

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

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