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    TINF2 TERF1 interacting nuclear factor 2 [ Homo sapiens (human) ]

    Gene ID: 26277, updated on 3-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    eIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation.

    eIF3i promotes colorectal cancer cell survival via augmenting PHGDH translation.
    Zhang Y, Wan X, Yang X, Liu X, Huang Q, Zhou L, Zhang S, Liu S, Xiong Q, Wei M, Qiu L, Zhang B, Han J., Free PMC Article

    10/28/2023
    TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

    TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
    Jensen MR, Jelsig AM, Gerdes AM, Hölmich LR, Kainu KH, Lorentzen HF, Hansen MH, Bak M, Johansson PA, Hayward NK, Van Overeem Hansen T, Wadt KAW., Free PMC Article

    09/6/2023
    Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.

    Phosphorylation of TRF2 promotes its interaction with TIN2 and regulates DNA damage response at telomeres.
    Storchova R, Palek M, Palkova N, Veverka P, Brom T, Hofr C, Macurek L., Free PMC Article

    02/28/2023
    Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.

    Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility.
    Koivuluoma S, Vorimo S, Mattila TM, Tervasmäki A, Kumpula T, Kuismin O, Winqvist R, Moilanen J, Mantere T, Pylkäs K., Free PMC Article

    01/14/2023
    The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.

    The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.
    Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, Baldan A, Baird DM, Bertuch AA., Free PMC Article

    10/22/2022
    Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.

    Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.
    Wang P, Xu Z., Free PMC Article

    01/1/2022
    Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.

    Structure, dynamics, and regulation of TRF1-TIN2-mediated trans- and cis-interactions on telomeric DNA.
    Pan H, Kaur P, Barnes R, Detwiler AC, Sanford SL, Liu M, Xu P, Mahn C, Tang Q, Hao P, Bhattaram D, You C, Gu X, Lu W, Piehler J, Xu G, Weninger K, Riehn R, Opresko PL, Wang H., Free PMC Article

    11/22/2021
    A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.

    A Truncating Germline Mutation of TINF2 in Individuals with Thyroid Cancer or Melanoma Results in Longer Telomeres.
    He H, Li W, Comiskey DF, Liyanarachchi S, Nieminen TT, Wang Y, DeLap KE, Brock P, de la Chapelle A., Free PMC Article

    06/5/2021
    TINF2 is a haploinsufficient tumor suppressor that limits telomere length.

    TINF2 is a haploinsufficient tumor suppressor that limits telomere length.
    Schmutz I, Mensenkamp AR, Takai KK, Haadsma M, Spruijt L, de Voer RM, Choo SS, Lorbeer FK, van Grinsven EJ, Hockemeyer D, Jongmans MC, de Lange T., Free PMC Article

    03/13/2021
    Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.

    Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
    Ibáñez-Cabellos JS, Seco-Cervera M, Picher-Latorre C, Pérez-Machado G, García-Giménez JL, Pallardó FV.

    01/9/2021
    Authors found that TPP1(ACD) upon binding to TIN2 induces changes that expand TIN2 binding capacity, such that TIN2 can accommodate both TRF1 and TRF2 simultaneously. Authors suggest a molecular model that explains why ACD is essential for the stable formation of TRF1-TIN2-TRF2 core complex.

    Human Telomere Repeat Binding Factor TRF1 Replaces TRF2 Bound to Shelterin Core Hub TIN2 when TPP1 Is Absent.
    Janovič T, Stojaspal M, Veverka P, Horáková D, Hofr C.

    06/20/2020
    All of the TIN2 isoforms stimulated telomerase to similar extents. Mutations in the TPP1 TEL patch abrogated this stimulation, suggesting that TIN2 functions with TPP1/POT1 to stimulate telomerase processivity.

    TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity.
    Pike AM, Strong MA, Ouyang JPT, Greider CW., Free PMC Article

    02/29/2020
    Loss of RNA-binding protein HuR facilitates cellular senescence through posttranscriptional regulation of TIN2 mRNA.

    Loss of RNA-binding protein HuR facilitates cellular senescence through posttranscriptional regulation of TIN2 mRNA.
    Lee JH, Jung M, Hong J, Kim MK, Chung IK., Free PMC Article

    08/10/2019
    In TRF1-TIN2-TRF2 complex, the peptide enhances the protein-protein interactions to yield a stable heterodimer

    The structurally similar TRFH domain of TRF1 and TRF2 dimers shows distinct behaviour towards TIN2.
    Kalathiya U, Padariya M, Baginski M.

    05/4/2019
    The TIN2 plays an important role in maintaining the stable shelterin complex required for proper telomere end protection.

    Structural and functional analyses of the mammalian TIN2-TPP1-TRF2 telomeric complex.
    Hu C, Rai R, Huang C, Broton C, Long J, Xu Y, Xue J, Lei M, Chang S, Chen Y., Free PMC Article

    08/18/2018
    study suggests that, gallstone does not affect telomere length and even after having increased telomere length, decreased expression of some shelterin genes in inflamed tissue might cause telomeres to cap improperly, possibly leading to telomere dysfunction and further, gallbladder carcinogenesis

    Telomere length variation and expression analysis of shelterin complex genes during gallbladder carcinogenesis.
    Poojary SS, Mishra G, Singh TD, Gupta S, Shrivastav BR, Tiwari PK.

    04/14/2018
    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.

    Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies.
    Gupta MP, Talcott KE, Kim DY, Agarwal S, Mukai S.

    11/18/2017
    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

    A novel spliced variant of the TIN2 shelterin is present in chronic lymphocytic leukemia.
    Ishdorj G, Kost SEF, Beiggi S, Zang Y, Gibson SB, Johnston JB.

    10/7/2017
    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

    Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.
    Pereboeva L, Hubbard M, Goldman FD, Westin ER., Free PMC Article

    07/30/2016
    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.

    The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.
    Frank AK, Tran DC, Qu RW, Stohr BA, Segal DJ, Xu L., Free PMC Article

    05/7/2016
    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

    Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.
    Alder JK, Stanley SE, Wagner CL, Hamilton M, Hanumanthu VS, Armanios M., Free PMC Article

    08/1/2015
    A potential mitotic regulation of TIN2 by phosphorylation, is reported.

    Cell cycle regulated phosphorylation of the telomere-associated protein TIN2.
    Yang S, Counter CM., Free PMC Article

    04/12/2014
    results suggest a link between telomeric proteins (TIN2)and metabolic control, providing an additional mechanism by which telomeric proteins regulate cancer and aging

    Mitochondrial localization of telomeric protein TIN2 links telomere regulation to metabolic control.
    Chen LY, Zhang Y, Zhang Q, Li H, Luo Z, Fang H, Kim SH, Qin L, Yotnda P, Xu J, Tu BP, Bai Y, Songyang Z., Free PMC Article

    12/22/2012
    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.

    Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
    Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA., Free PMC Article

    08/11/2012
    The positive correlation between telomere length in dyskeratosis congenital and percent of LINE-1 methylation was restricted to TINF2 mutations.

    The relationship between DNA methylation and telomere length in dyskeratosis congenita.
    Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA., Free PMC Article

    06/23/2012
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