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Beschreibung

Telomeric repeat-binding factor 2 (UniProt: Q15554, also known as TTAGGG repeat-binding factor 2, Telomeric DNA-binding protein, TERF2) is encoded by the TERF2 (also known as TRBF2, TRF2) gene (Gene ID: 7014) in human. TERF2 is homodimeric protein that is ubiquitous in its expression. Higher expression levels are reported in spleen, thymus, prostate, uterus, testis, peripheral blood leukocytes, colon, and small intestine. Two soforms of TERF2 are reported that are produced by alternative splicing.TERF2 binds to telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. It is also required to recruit a number of factors and enzymes required for telomere protection, including the sheltering complex, TERF2IP/RAP1 and DCLRE1B/Apollo. TEFR2 colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase. It is phosphorylated upon DNA damage and the phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites. Inhibition of TRF2 causes apoptosis in several mammalian cell types and its over-expression is observed in a variety of human cancers.