Preferred Label : MEF2C/SS18 Fusion Gene;
NCIt synonyms : MEF2C::SS18 Fusion Gene; MEF2C-SS18 Fusion Gene;
NCIt definition : A fusion gene that results from a chromosomal rearrangement involving the long arms
of chromosomes 5 (5q) and 18 (18q) that fuses the first 7 or 10 exons of the MEF2C
gene upstream of either exon 4 or 5 of the SS18 gene, respectively. This fusion is
associated with salivary gland microsecretory adenocarcinoma.;
NCIt note : While a fusion protein has not yet been characterized, transcription/translation of
the MEF2C/SS18 fusion gene could yield a fusion protein comprised of the N-terminal
sequences of myocyte-specific enhancer factor 2C protein, including the MADS box and
both transcriptional activation domains, fused to the C-terminal half of protein SSXT,
including domains that bind to SH2- and SH3-containing proteins.;
PubMed : 31094920; 35690998;
Origin ID : C201777;
gene_involved_in_pathogenesis_of_disease
- gene_mapped_to_disease
- related_to_genetic_biomarker
