Recombinant Human TERF1-interacting nuclear factor 2 (TINF2)

1. The TIN2 plays an important role in maintaining the stable shelterin complex required for proper telomere end protection. PMID: 29160297
2. We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic basis. PMID: 28095086
3. demonstrate here the presence of a novel spliced isoform of TIN2 in chronic lymphocytic leukemia (CLL), related to deletion of exon 2 in the TIN2 gene PMID: 28575699
4. data supports a mechanism whereby telomerase deficiency and subsequent shortened telomeres initiate a DNA damage response and create a pro-oxidant environment, especially in Dyskeratosis Congenita cells carrying TINF2 mutations PMID: 26859482
5. telomerase elongates telomeres at a reduced frequency in TIN2-R282H heterozygous cells; this recruitment defect is further corroborated by examining the effect of this mutation on telomerase-telomere co-localization. PMID: 26230315
6. Our findings identify TINF2 as a mutant telomere gene in familial pulmonary fibrosis and suggest that infertility may precede the presentation of pulmonary fibrosis in a small subset of adults with telomere syndromes PMID: 25539146
7. A potential mitotic regulation of TIN2 by phosphorylation, is reported. PMID: 23977114
8. results suggest a link between telomeric proteins (TIN2)and metabolic control, providing an additional mechanism by which telomeric proteins regulate cancer and aging PMID: 22885005
9. Results suggests that the disruption of TIN2-TRF1 interaction may contribute to the severe dyskeratosis congenita phenotype observed in the context of the TIN2 truncation mutation. PMID: 21477109
10. The positive correlation between telomere length in dyskeratosis congenital and percent of LINE-1 methylation was restricted to TINF2 mutations. PMID: 21981348
11. Frameshift or nonsense mutations in TIN2 gene having very short telomeres are found in patients with dyskeratosis congenita. PMID: 21199492
12. Siah2 acts as an E3 ligase to directly ubiquitylate TIN2 in vitro. PMID: 22064479
13. These results demonstrate the important roles that Sp1 and NF-kappaB play in regulating the expression of the human telomere-binding protein TIN2. PMID: 21731707
14. The presence of dysfunctional telomeres in chronic lymphocytic leukemia did not correlate with telomere shortening or chromatin marks deregulation but with a down-regulation of 2 shelterin genes: ACD and TINF2. PMID: 21355086
15. TIN2 mutations in DC may compromise the telomere recruitment of telomerase, leading to telomere shortening and the associated pathogenesis. PMID: 21536674
16. exon 6 of TINF2 natural mutations in 2/142 Japanese patients with acquired acquired bone marrow failure syndromes PMID: 20560964
17. TINF2 mutation of shelterin complex is associated with dyskeratosis congenita. PMID: 20979174
18. The expression of TINF2 may work to reduce the telomere length in precancerous lesions and offer new insight into the mechanism of carcinogenesis in gastric cancer. PMID: 20127252
19. TIN2-anchored TPP1 plays a major role in the recruitment of telomerase to telomeres in human cells. PMID: 20404094
20. Co-localises with the interstitial TTAGGG repeats in interstitial telomeres. PMID: 11938440
21. Down-regulation of TRF1, TRF2 and TIN2 genes is important to maintain telomeric DNA for gastric cancers. PMID: 12530079
22. TIN2 alters the conformation of TRF1, which favours a tertiary telomeric structure that hinders telomerase from gaining access to telomeres PMID: 12835755
23. Partial knockdown of TIN2 by small hairpin RNA in a telomerase-positive cell line resulted in telomere elongation, which is typical of reduced TRF1 function. PMID: 15133513
24. TIN2 mutants defective in binding of TRF1 or TRF2 induce a DNA damage response and destabilize TRF1 and TRF2 at telomeres in human cells. PMID: 15292264
25. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres PMID: 15316005
26. May be involved in multistep hepatocarcinogenesis by playing crucial role in telomere shortening. PMID: 15632001
27. a novel extra-telomeric organization of TIN2 is associated with the control of cell proliferation; TIN2 is an important regulator of mammary epithelial differentiation PMID: 15741234
28. coordinated interactions among TPP1, TIN2, TRF1, and TRF2 may ensure robust assembly of the telosome, telomere targeting of its subunits, and, ultimately, regulated telomere maintenance PMID: 16880378
29. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. PMID: 18252230
30. Results suggest that distinct TIN2 complexes exist and that TIN2-15C-sensitive subcomplexes are particularly important for cell survival in the absence of functional p53. PMID: 18443218
31. In a large series, TINF2 mutations account for approximately 11% of all patients with dyskeratosis congenita. PMID: 18669893
32. conclude that a significant proportion of patients who underwent unrelated donor hematopoietic stem cell transplantation for severe aplastic anemia harbored mutations in TINF2 and may have had occult dyskeratosis congenita PMID: 19090550
33. Our results suggest a dual role for TIN2 in mediating the function of the shelterin complex and tethering telomeres to the nuclear matrix. PMID: 19229133

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HGNC: 11824

OMIM: 268130

KEGG: hsa:26277

STRING: 9606.ENSP00000267415

UniGene: Hs.496191