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

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; 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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

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

GDB:454738 (e-PCR)
- UniSTS:157445

NoName (e-PCR)
- UniSTS:482121

STS-H99655 (e-PCR)
- UniSTS:50770

NoName (e-PCR)
- UniSTS:482174

NoName (e-PCR)
- UniSTS:482698

NoName (e-PCR)
- UniSTS:481452

NoName (e-PCR)
- UniSTS:481469

STS-Z49105 (e-PCR)
- UniSTS:16636

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)

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
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
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