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

Gene ID: 6757, updated on 11-Jun-2021

Summary

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
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

See SSX2 in Genome Data Viewer
Location:
Xp11.22
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (52696896..52707227, complement)
105.20201022 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 pseudogene 5 Neighboring gene S100A11 pseudogene 10 Neighboring gene ornithine aminotransferase pseudogene Neighboring gene ornithine aminotransferase pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 transcription, DNA-templated 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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

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_001278697.2NP_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/Swiss-Prot
    Q16385
    UniProtKB/TrEMBL
    R9QTR3
    Conserved Domains (3) summary
    cd07765
    Location:2461
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    smart00349
    Location:2382
    KRAB; krueppel associated box
    pfam09514
    Location:182213
    SSXRD; SSXRD motif
  2. NM_003147.6NP_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:2382
    KRAB; krueppel associated box
  3. NM_175698.4NP_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
    Related
    ENSP00000338561.5, ENST00000337502.5
    Conserved Domains (3) summary
    cd07765
    Location:2461
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    smart00349
    Location:2382
    KRAB; krueppel associated box
    pfam09514
    Location:156187
    SSXRD; SSXRD motif

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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