TERF1 Interacting Nuclear Factor 2 (TINF2)

TINF2 encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome.The TIN2 open reading frame encoded a protein of 354 amino acids. A wide variety of human tissues and cell types expressed a 2.4-kb TIN2 transcript on Northern blot analysis, and expression did not vary with growth state, immortalization, or transformation. TIN2 interacted with TRF1 in vitro and in cells, and colocalized with TRF1 in nuclei and metaphase chromosomes.