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SS18 Gene

protein-coding   GIFtS: 56
GCID: GC18M023596

Synovial Sarcoma Translocation, Chromosome 18


(Previous symbol: SSXT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Synovial Sarcoma Translocation, Chromosome 181 2     Protein SSXT2
SSXT1 2 3 5     Synovial Sarcoma, Translocated To X Chromosome2
SYT2 3 5     Protein SYT3
Synovial Sarcoma Translocated To X Chromosome Protein2 3     

External Ids:    HGNC: 113401   Entrez Gene: 67602   Ensembl: ENSG000001413807   OMIM: 6001925   UniProtKB: Q155323   

Export aliases for SS18 gene to outside databases

Previous GC identifers: GC18M023570 GC18M023308 GC18M021848 GC18M021850 GC18M020454


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SS18 Gene:
SS18 (synovial sarcoma translocation, chromosome 18) is a protein-coding gene. Diseases associated with SS18 include colorado tick fever, and kidney hemangiopericytoma. GO annotations related to this gene include ligand-dependent nuclear receptor transcription coactivator activity. An important paralog of this gene is SS18L1.

UniProtKB/Swiss-Prot: SSXT_HUMAN, Q15532
Function: Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2
function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional
coactivation

Gene Wiki entry for SS18 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000018.10  NT_010966.15  NC_018929.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SS18 gene promoter:
         C/EBPbeta   AML1a   Sp1   FOXJ2 (long isoform)   HNF-1   FOXJ2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSS18 promoter sequence
   Search Chromatin IP Primers for SS18

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SS18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.2

SS18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SS18 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M023596:  view genomic region     (about GC identifiers)

Start:
23,596,217 bp from pter      End:
23,671,181 bp from pter
Size:
74,965 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SSXT_HUMAN, Q15532 (See protein sequence)
Recommended Name: Protein SSXT  
Size: 418 amino acids; 45929 Da
Subunit: Interacts with MLLT10. Isoform 1 interacts with RBM14 isoform 1. Isoform 2 interacts with RBM14 isoform 1
Sequence caution: Sequence=AAK21314.1; Type=Erroneous initiation; Sequence=CAA55792.1; Type=Erroneous initiation;
Secondary accessions: B0YJ95 Q16404 Q4VAX1 Q9BXC6
Alternative splicing: 2 isoforms:  Q15532-1   Q15532-2   

Explore the universe of human proteins at neXtProt for SS18: NX_Q15532

Explore proteomics data for SS18 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SS18 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001007560.1  NP_005628.2  

    ENSEMBL proteins: 
     ENSP00000414516   ENSP00000438066   ENSP00000462363   ENSP00000269138   ENSP00000269137  
     ENSP00000462838   ENSP00000441760   ENSP00000464664   ENSP00000462766   ENSP00000463933  
     ENSP00000463943   ENSP00000464673   ENSP00000463928   ENSP00000463586   ENSP00000463802  
     ENSP00000464609   ENSP00000464556   ENSP00000464049   ENSP00000462104   ENSP00000444551  
     ENSP00000443097   ENSP00000444647  

    SS18 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SS18
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SS18
    GenScript Custom Purified and Recombinant Proteins Services for SS18
    Novus Biologicals SS18 Proteins
    Novus Biologicals SS18 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SS18

    SS18 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for SS18
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    Novus Biologicals SS18 Antibodies
    Abcam antibodies for SS18
    Cloud-Clone Corp. Antibodies for SS18
    Search ThermoFisher Antibodies for SS18
    LSBio Antibodies in human, mouse, rat for SS18

    SS18 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SS18
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SS18
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SS18
    Cloud-Clone Corp. CLIAs for SS18


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007726 SS18_fam

    Graphical View of Domain Structure for InterPro Entry Q15532

    ProtoNet protein and cluster: Q15532

    1 Blocks protein domain: IPB007726 SSXT

    UniProtKB/Swiss-Prot: SSXT_HUMAN, Q15532
    Similarity: Belongs to the SS18 family


    SS18 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SSXT_HUMAN, Q15532
    Function: Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2
    function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional
    coactivation

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15919756
    GO:0030374ligand-dependent nuclear receptor transcription coactivator activity IDA15919756
         
    SS18 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ss18):
     cardiovascular system  embryogenesis  growth/size/body  homeostasis/metabolism  mortality/aging 
     nervous system 

    SS18 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ss18tm1Adg for SS18

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SS18
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SS18

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SS18
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SS18

    miRNA
    Products:
        
    miRTarBase miRNAs that target SS18:
    hsa-mir-331-3p (MIRT043346), hsa-mir-140-3p (MIRT021673), hsa-mir-222-3p (MIRT046813), hsa-mir-192-5p (MIRT026660), hsa-mir-215-5p (MIRT024343)

    Block miRNA regulation of human, mouse, rat SS18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SS18 (see all 26):
    hsa-miR-448 hsa-miR-3607-3p hsa-miR-642a hsa-miR-3673 hsa-miR-4328 hsa-miR-137 hsa-miR-513a-5p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidSS18 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SS18
    Predesigned siRNA for gene silencing in human, mouse, rat SS18

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SS18

    Clone
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    OriGene clones in human, mouse for SS18 (see all 15)
    OriGene ORF clones in mouse, rat for SS18
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SS18 (NM_001007559)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SS18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SS18

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SS18
    Browse ESI BIO Cell Lines and PureStem Progenitors for SS18 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SS18


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SSXT_HUMAN, Q15532: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytoskeleton2
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005881cytoplasmic microtubule IEA--

    SS18 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SS18 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SS18):
        Transcriptional misregulation in cancer


    SS18 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SS18
    Interactions:

        GeneGlobe Interaction Network for SS18

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SS18 (Q155321, 3 ENSP000002691384) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    H3F3BP842433, ENSP000002548104I2D: score=2 STRING: ENSP00000254810
    SMARCA2P515313, ENSP000002657734I2D: score=3 STRING: ENSP00000265773
    H3F3AP842433I2D: score=2 
    SMARCA4P515323, ENSP000003507204I2D: score=1 STRING: ENSP00000350720
    SMARCB1Q128243, ENSP000002631214I2D: score=1 STRING: ENSP00000263121
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0000902cell morphogenesis IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007010cytoskeleton organization ----
    GO:0042493response to drug IEA--

    SS18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SS18 (SSXT)

    3 Novoseek inferred chemical compound relationships for SS18 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 23.7 3 10072425 (1), 7951320 (1), 16227627 (1)
    glutamine 17.4 3 10072425 (1), 7951320 (1), 16227627 (1)
    tyrosine 0 2 10072425 (1), 16227627 (1)



    SS18 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SS18 gene (2 alternative transcripts): 
    NM_001007559.1  NM_005637.2  

    Unigene Cluster for SS18:

    Synovial sarcoma translocation, chromosome 18
    Hs.129261  [show with all ESTs]
    Unigene Representative Sequence: NM_001007559
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):
    ENST00000415083(uc002kvm.3 uc002kvn.3 uc010xbf.2 uc010xbg.2 uc010xbh.2 uc010xbi.2 uc010dlz.1)
    ENST00000542420 ENST00000579640 ENST00000269138 ENST00000269137 ENST00000585121
    ENST00000580958 ENST00000582092 ENST00000539244 ENST00000585241 ENST00000578954
    ENST00000579061 ENST00000577636 ENST00000584083 ENST00000578700 ENST00000582792
    ENST00000581021 ENST00000577572
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SS18 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SS18 (see all 26):
    hsa-miR-448 hsa-miR-3607-3p hsa-miR-642a hsa-miR-3673 hsa-miR-4328 hsa-miR-137 hsa-miR-513a-5p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidSS18 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SS18
    Predesigned siRNA for gene silencing in human, mouse, rat SS18
    Clone
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    OriGene clones in human, mouse for SS18 (see all 15)
    OriGene ORF clones in mouse, rat for SS18
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SS18 (NM_001007559)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SS18
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SS18
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SS18
    OriGene qSTAR qPCR primer pairs in human, mouse for SS18
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SS18
      QuantiTect SYBR Green Assays in human, mouse, rat SS18
      QuantiFast Probe-based Assays in human, mouse, rat SS18

    Additional mRNA sequence: 

    AF244972.1 AF343880.1 AF402618.1 AK289510.1 AK296949.1 AK299082.1 AK301504.1 AK304305.1 
    AK307923.1 AK316302.1 AK316338.1 BC096221.1 BC096222.1 BC096223.1 BC096224.1 CR542088.1 
    CR542103.1 X79201.1 

    20 DOTS entries:

    DT.113857  DT.121097311  DT.100745105  DT.105718  DT.121097290  DT.100798265  DT.121097277  DT.75145663 
    DT.95276193  DT.100714045  DT.100798264  DT.101962724  DT.121097281  DT.121097284  DT.121097299  DT.121097302 
    DT.97843921  DT.100798261  DT.75107159  DT.91657720 

    Selected AceView cDNA sequences (see all 248):

    AA376490 BP360387 BP334526 BF330745 CK823193 BX400281 BU521546 BX645814 
    BP370482 AW440568 BX327397 AW511507 BP364367 BQ100914 BQ101225 BX282544 
    AW078821 CB148207 AA375833 BM475931 CB068575 BE301610 BE677244 CA442904 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SS18 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d · 11e ^ 12a · 12b ^
    SP1:                                            -     -     -           -     -     -           -     -                                                         
    SP2:                                            -     -     -           -     -     -           -     -                                                         
    SP3:                                            -     -     -           -     -     -                 -                                                         
    SP4:                                            -     -     -           -           -           -     -                                                         
    SP5:                                            -     -     -                 -     -           -     -                                                         

    ExUns: 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17
    SP1:              -                           
    SP2:        -     -                           
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for SS18

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SS18 expression in normal human tissues (normalized intensities)      SS18 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACAGCCTTA
    SS18 Expression
    About this image


    SS18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Thyroid (Endocrine System)
    SS18 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SS18 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.129261

    UniProtKB/Swiss-Prot: SSXT_HUMAN, Q15532
    Tissue specificity: Fairly ubiquitously expressed. Expressed in synovial sarcomas and in other human cell lines.
    The fusion genes SSXT-SSX1 and SSXT-SSX2 are expressed only in synovial sarcomas

        Custom PCR Arrays for SS18
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SS18
    QuantiTect SYBR Green Assays in human, mouse, rat SS18
    QuantiFast Probe-based Assays in human, mouse, rat SS18
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SS18

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SS18 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ss181 , 5 synovial sarcoma translocation, Chromosome 181, 5 91.95(n)1
    96.17(a)1
      18 (8.14 cM)5
    2689961  NM_009280.21  NP_033306.21 
     146256295 
    chicken
    (Gallus gallus)
    Aves SS181 synovial sarcoma translocation, chromosome 18 89.23(n)
    97.85(a)
      421085  NM_001278150.1  NP_001265079.1 
    lizard
    (Anolis carolinensis)
    Reptilia SS186
    synovial sarcoma translocation, chromosome 18
    91(a)
    1 ↔ 1
    4(36823528-36856271)
    African clawed frog
    (Xenopus laevis)
    Amphibia ss18-prov2 synovial sarcoma translocation, chromosome 18 81.04(n)    BC044096.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufe02e042 wufe02e04 77.89(n)   326668  BC047188.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG105556
    --
    10(a)
    1 → many
    X(8292973-8297975)


    ENSEMBL Gene Tree for SS18 (if available)
    TreeFam Gene Tree for SS18 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SS18 gene
    SS18L12  SS18L22  
    9 SIMAP similar genes for SS18 using alignment to 19 protein entries:     SSXT_HUMAN (see all proteins):
    SYT    SYT-SSX1    SYT-SSX2    TARDBP    FLJ10385    unknown
    SS18L2    SS18L1    NARF

    SS18 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SS18 (see all 1629)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs773930381,2
    F--23589113(+) CACTAG/ATCTCC 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1817135371,2
    --23589145(+) ATTCTG/TCTTAT 2 -- ds50010--------
    rs1866915961,2
    --23589212(+) GGCAAC/GACAAA 2 -- ds50010--------
    rs1467309461,2
    C--23589247(+) TATTTC/TAAATG 2 -- ds50010--------
    rs1901867831,2
    --23589257(+) GAGATA/GACGTA 2 -- ds50010--------
    rs1825454291,2
    --23589315(+) TCTAAC/TTCAGT 2 -- ds50010--------
    rs48007081,2
    C,F,A,H--23589338(+) AGCCTT/CATGGA 2 -- ds500124Minor allele frequency- C:0.28NA NS EA WA CSA 2527
    rs728782041,2
    C,F--23589444(+) ATTTTG/CATAAA 2 -- ds50011Minor allele frequency- C:0.02NA 120
    rs557954011,2
    C--23589630(+) ACAAAA/GTACAC 2 -- ut310--------
    rs72391351,2
    C,F--23589974(+) ggcggA/Gggttg 2 -- ut31 ese31Minor allele frequency- G:0.06NS 34

    HapMap Linkage Disequilibrium report for SS18 (23596217 - 23671181 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SS18:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2674101CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SS18
    DNA2.0 Custom Variant and Variant Library Synthesis for SS18

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600192    OMIM disorders: --

    UniProtKB/Swiss-Prot: SSXT_HUMAN, Q15532
  • Note=A chromosomal aberration involving SS18 may be a cause of synovial sarcoma. Translocation
    t(X;18)(p11.2;q11.2). The translocation is specifically found in more than 80% of synovial sarcoma. The fusion
    products SSXT-SSX1 or SSXT-SSX2 are probably responsible for transforming activity. Heterogeneity in the position
    of the breakpoint can occur (low frequency)

  • 19 diseases for SS18:    About MalaCards
    colorado tick fever    kidney hemangiopericytoma    spindle cell synovial sarcoma    synovial sarcoma
    peroneal nerve paralysis    monophasic synovial sarcoma    biphasic synovial sarcoma    sarcoma
    epithelioid sarcoma    hemangiopericytoma    retinal detachment    primitive neuroectodermal tumor
    acute leukemia    retinitis    obesity    melanoma
    leukemia    multiple myeloma    myeloma

    4 diseases from the University of Copenhagen DISEASES database for SS18:
    Synovial sarcoma     Colorado tick fever     Sarcoma     Kidney hemangiopericytoma

    SS18 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SS18 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcoma synovial 96.2 55 17334346 (4), 7951320 (4), 10072425 (2), 15147271 (2) (see all 41)
    sarcoma 66.1 6 17334346 (2), 15905690 (2), 12469233 (1)
    ewings sarcoma 41.5 1 17334346 (1)
    tumors 39.2 14 17334346 (3), 15905690 (2), 11668506 (1), 16682293 (1) (see all 9)
    primary tumor 0.652 1 17175375 (1)

    Genetic Association Database (GAD): SS18

    Export disorders for SS18 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SS18 gene, integrated from 10 sources (see all 107):
    (articles sorted by number of sources associating them with SS18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma. (PubMed id 7951320)1, 2, 3, 9 Clark J.... Cooper C.S. (Nat. Genet. 1994)
    2. Cloning and characterization of spliced fusion transcript variants of synovial sarcoma: SYT/SSX4, SYT/SSX4v, and SYT/SSX2v. Possible regulatory role of the fusion gene product in wild type SYT expression. (PubMed id 11368913)1, 2, 9 Brodin B.... Larsson O. (Gene 2001)
    3. The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10. (PubMed id 11423977)1, 2, 9 de Bruijn D.R.... Geurts van Kessel A. (Oncogene 2001)
    4. Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci. (PubMed id 16484776)1, 3, 9 de Bruijn D.R. and Geurts van Kessel A. (Cytogenet. Genome Res. 2006)
    5. Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript. (PubMed id 7495284)1, 2, 9 Fligman I....Ladanyi M. (Am. J. Pathol. 1995)
    6. Synovial sarcoma translocation (SYT) encodes a nuclear receptor coactivator. (PubMed id 15919756)1, 2 Iwasaki T.... Chin W.W. (Endocrinology 2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome. (PubMed id 8152806)1, 3 Shipley J.M....Gusterson B.A. (Oncogene 1994)
    9. Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus. (PubMed id 10072425)1, 9 Thaete C....Goodwin G. (Hum. Mol. Genet. 1999)
    10. Cytosolic SYT/SS18 isoforms are actin-associated proteins that function in matrix-specific adhesion. (PubMed id 19649286)1, 9 Kim J....Parks W.C. (PLoS ONE 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6760 HGNC: 11340 AceView: SS18 Ensembl:ENSG00000141380 euGenes: HUgn6760
    ECgene: SS18 Kegg: 6760 H-InvDB: SS18

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SS18 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SS18 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SS18 gene:
    Search GeneIP for patents involving SS18

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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