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

Gene ID: 6759, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48383539..48393347)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47792507..47802319)
105.20220307 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
  • 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. 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
  3. Expression of cancer-testis antigen in multiple myeloma. He L, et al. J Huazhong Univ Sci Technolog Med Sci, 2014 Apr. PMID 24710929
  4. Effects of CT-Xp gene knock down in melanoma cell lines. Caballero OL, et al. Oncotarget, 2013 Apr. PMID 23625514, Free PMC Article
  5. Identification and functional characterization of glioma-specific promoters and their application in suicide gene therapy. Yawata T, et al. J Neurooncol, 2011 Sep. PMID 21347689

See all (24) 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)

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

  • 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_2023_10

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

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