TINF2 Gene Mutation in a Patient with Pulmonary Fibrosis

Figure 2

TINF2 gene overview visualizing the sequence of protein domains and describing the interactions of the TINF2 protein in the shelterin complex. TINF2 mediates the formation of the shelterin complex by binding to the TRF1, TRF2, and TPP1 proteins. Numbers along the lower side of the TINF2 gene denote encoded amino acid positions. The known binding domains of the TINF2 interaction partners TRF1, TRF2, and TPP1 are indicated in orange, green, and yellow, respectively [15, 16]. TINF2 interacting protein functions are annotated in boxes. TRF1 protein function is based on [17, 18]. TRF2 protein function is based on [17]. TPP1 protein function is based on [17, 19]. TINF2 mutation cluster function is based on [20, 21]. Numbers along the upper side of the TINF2 gene indicate amino acid positions of TINF2 mutations in patients with pulmonary fibrosis. The Ser245Tyr mutation location is shown in red. The TINF2 DC mutation cluster is indicated in purple [22]. Blue lines indicate TINF2 mutations found in patients with pulmonary fibrosis at amino acids 282 [23], 284 [13], and 287 [24] and nucleotides 871–874 deletion [25]. aa = amino acid.