STX18 intronic transcript 1 (STX18-IT1)

STX18 intronic transcript 1 (STX18-IT1) is a long non-coding RNA gene located within an intronic region of the STX18 gene on chromosome 4 (4p16) and does not encode a protein[1][7]. STX18-IT1 functions predominantly as a regulatory RNA molecule involved in cardiac development, particularly in the differentiation of cardiomyocytes from embryonic stem cells[2][6]. Its precise mechanism includes influencing the expression of critical cardiac transcription factors such as NKX2-5, ISL1, GATA4, and TBX5 during development[2][6]. Genetic studies have identified three single nucleotide polymorphisms (SNPs; rs870142, rs16835979, and rs6824295) in the locus of STX18-IT1 that are strongly associated with increased risk for atrial septal defect (ASD), a common congenital heart defect[2][6]. Knockdown of STX18-IT1 impairs cardiac mesoderm specification and reduces the efficiency of cardiomyocyte differentiation[2][6]. There is no evidence that STX18-IT1 directly interacts with drugs or is a direct therapeutic target; rather, it serves as a disease-associated regulatory RNA and potential biomarker for developmental cardiac disorders[2][6][7].

Other names

STX18 intronic transcript 1 (non-protein coding)STX18-IT1