• Gene id: 6760

Gene Summary

• Gene Symbol: SS18   Gene   UCSC   Ensembl
• Aliases: SSXT, SYT
• Gene name: SS18 subunit of BAF chromatin remodeling complex
• Alternate names: protein SSXT, SS18, nBAF chromatin remodeling complex subunit, synovial sarcoma translocated to X chromosome protein, synovial sarcoma translocation, chromosome 18, synovial sarcoma, translocated to X chromosome,
• Gene location: 18q11.2 (120194714: 120127201)     Exons: 58     NC_000012.12
• OMIM: 600192

Protein Summary

• Protein general information: Q15532  
  • Name: Protein SSXT (Protein SYT) (Synovial sarcoma translocated to X chromosome protein)
  • Length: 418  
  • Mass: 45929
  • 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.
• Sequence:

  MSVAFAAPRQRGKGEITPAAIQKMLDDNNHLIQCIMDSQNKGKTSECSQYQQMLHTNLVYLATIADSNQNMQSLL
  PAPPTQNMPMGPGGMNQSGPPPPPRSHNMPSDGMVGGGPPAPHMQNQMNGQMPGPNHMPMQGPGPNQLNMTNSSM
  NMPSSSHGSMGGYNHSVPSSQSMPVQNQMTMSQGQPMGNYGPRPNMSMQPNQGPMMHQQPPSQQYNMPQGGGQHY
  QGQQPPMGMMGQVNQGNHMMGQRQIPPYRPPQQGPPQQYSGQEDYYGDQYSHGGQGPPEGMNQQYYPDGHNDYGY
  QQPSYPEQGYDRPYEDSSQHYYEGGNSQYGQQQDAYQGPPPQQGYPPQQQQYPGQQGYPGQQQGYGPSQGGPGPQ
  YPNYPQGQGQQYGGYRPTQPGPPQPPQQRPYGYDQGQYGNYQQ

• Structural information:
  • Interpro: IPR007726  
  • STRING: ENSP00000414516
• Other Databases: GeneCards:  SS18  Malacards:  SS18

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0030374	nuclear receptor transcription coactivator activity	IDA	molecular function
GO:0016514	SWI/SNF complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000902	cell morphogenesis	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0016514	SWI/SNF complex	IEA	cellular component
GO:0048013	ephrin receptor signaling pathway	IEA	biological process
GO:0071564	npBAF complex	IEA	cellular component
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0005881	cytoplasmic microtubule	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0097150	neuronal stem cell population maintenance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
synovial sarcoma	PMID:7951320
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881