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FLASH GENE

Symbol

SS18

contributors: mct/npt - updated : 11-10-2021

HGNC name	synovial sarcoma translocation, chromosome 18
HGNC id	11340

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	74.39 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001007559 11 - 3409 NP_001007560 46 418 - 2008 18234968 NSYT NM_005637 10 - 3309 NP_005628 - 387 ubiquitous 2008 18234968 ISYT insertion of 93 bp, between exon 8 and 9 of the conventional SYT transcript transcriptional activity of the I-SYT and I-SYT-SSX proteins were higher than those of the N-SYT and N-SYT-SSX proteins NM_001308201 11 - 3413 NP_001295130 - 395 - 2008 18234968

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth       highly Hearing/Equilibrium ear       highly Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal SNH domain, potentially inhibitor
	three potential SH2
	one potential SH3 domains
	an annexin-like imperfect repeat
	a repression domain QPGY (glutamine, proline, glycine rich tyrosine) at the C terminus

HOMOLOGY

interspecies

ortholog to murine Ss18

intraspecies

homolog to SS18L2

Homologene

FAMILY

SS18 family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	colocalized and binding with BRM in discrete nuclear speeckles

basic FUNCTION	acting as a transcriptional co-activator
	SS18-SSX1 can negatively regulate TP53 tumor-suppressive function by increasing the stability of its negative regulator HDM2 (D'Arcy 2008)
	SS18 plays a role in the pluripotent to somatic interface and undergoes liquid-liquid phase separation through a unique tyrosine-based mechanism

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

colocalizing with the polycomb group (PcG) complex

INTERACTION

DNA

RNA

small molecule

protein	BRM of the SWI/SNF complex
	sarcoma specific fusion gene SS18/SSX interacting with IGF1R (seem to play important but different roles in maintaining malignant growth of synovial sarcoma cells)
	SHCBP1 is a novel downstream target gene of SS18-SSX1, and the oncogene SS18-SSX1 promotes tumorigenesis by increasing the expression of SHCBP1, which normally acts as a tumor promoting factor

cell & other

associating with chromatin

REGULATION

Other

regulated by the SYT/SSX gene form the normal allele

ASSOCIATED DISORDERS

corresponding disease(s)

BSSX

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with SSX1 or SSX2 in synovial sarcoma with translocation t(X;18)(p11.2-q11.2); see BSSX, SSX3, SSX4, SSX5 tumoral     --over   of SS18-SSX1 enhanced TP53 ubiquitination and degradation in a manner dependent on the ubiquitin ligase activity of HDM2 (D'Arcy 2008) tumoral fusion       rearrangements of both USP6 and SS18, but histologic features were consistent with aneurysmal bone cyst throughout the lesion tumoral fusion       SS18-SSX2 fusion oncogene expression characterizes human synovial sarcomas tumoral fusion       SS18-NEDD4 gene fusion in primary renal synovial sarcoma

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer muscle   in synovial sarcoma, HDAC2 inactivation demonstrates significant therapeutic effect by degradation of the SS18-SSX driver oncoprotein

ANIMAL & CELL MODELS