Property Summary

NCBI Gene PubMed Count 58
PubMed Score 89.79
PubTator Score 72.75

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
tuberculosis and treatment for 6 months -1.100 5.8e-05
ovarian cancer 1.400 5.4e-04

Gene RIF (32)

PMID Text
26859482 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
26230315 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.
25539146 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
23977114 A potential mitotic regulation of TIN2 by phosphorylation, is reported.
22885005 results suggest a link between telomeric proteins (TIN2)and metabolic control, providing an additional mechanism by which telomeric proteins regulate cancer and aging
22064479 Siah2 acts as an E3 ligase to directly ubiquitylate TIN2 in vitro.
21981348 The positive correlation between telomere length in dyskeratosis congenital and percent of LINE-1 methylation was restricted to TINF2 mutations.
21731707 These results demonstrate the important roles that Sp1 and NF-kappaB play in regulating the expression of the human telomere-binding protein TIN2.
21536674 TIN2 mutations in DC may compromise the telomere recruitment of telomerase, leading to telomere shortening and the associated pathogenesis.
21477109 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.
21355086 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.
21209389 Mouse gene deletion experiments revealed DNA-damage-response pathways that threaten chromosome ends and how the components of the telomeric shelterin complex prevent activation of these pathways.[Shelterin]
21199492 Frameshift or nonsense mutations in TIN2 gene having very short telomeres are found in patients with dyskeratosis congenita.
20979174 TINF2 mutation of shelterin complex is associated with dyskeratosis congenita.
20560964 exon 6 of TINF2 natural mutations in 2/142 Japanese patients with acquired acquired bone marrow failure syndromes
20404094 TIN2-anchored TPP1 plays a major role in the recruitment of telomerase to telomeres in human cells.
20127252 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.
19229133 Our results suggest a dual role for TIN2 in mediating the function of the shelterin complex and tethering telomeres to the nuclear matrix.
19090550 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
18669893 In a large series, TINF2 mutations account for approximately 11% of all patients with dyskeratosis congenita.
18669893 Observational study of gene-disease association. (HuGE Navigator)
18443218 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.
18252230 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
16880378 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
15741234 a novel extra-telomeric organization of TIN2 is associated with the control of cell proliferation; TIN2 is an important regulator of mammary epithelial differentiation
15632001 May be involved in multistep hepatocarcinogenesis by playing crucial role in telomere shortening.
15316005 TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres
15292264 TIN2 mutants defective in binding of TRF1 or TRF2 induce a DNA damage response and destabilize TRF1 and TRF2 at telomeres in human cells.
15133513 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.
12835755 TIN2 alters the conformation of TRF1, which favours a tertiary telomeric structure that hinders telomerase from gaining access to telomeres
12530079 Down-regulation of TRF1, TRF2 and TIN2 genes is important to maintain telomeric DNA for gastric cancers.
11938440 Co-localises with the interstitial TTAGGG repeats in interstitial telomeres.

AA Sequence

MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELI      1 - 70
LQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYG     71 - 140
EPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVN    141 - 210
LAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHK    211 - 280
ERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPAT    281 - 350
EQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT    351 - 420
LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL                                           421 - 451
//

Text Mined References (64)

PMID Year Title
26859482 2016 Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26230315 2015 The Shelterin TIN2 Subunit Mediates Recruitment of Telomerase to Telomeres.
25620558 2015 TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
25539146 2015 Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.
25416956 2014 A proteome-scale map of the human interactome network.
25172512 2014 The shelterin component TPP1 is a binding partner and substrate for the deubiquitinating enzyme USP7.
24270157 2013 A quantitative telomeric chromatin isolation protocol identifies different telomeric states.
23977114 2013 Cell cycle regulated phosphorylation of the telomere-associated protein TIN2.
23685356 2013 HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22885005 2012 Mitochondrial localization of telomeric protein TIN2 links telomere regulation to metabolic control.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22064479 2012 TIN2 stability is regulated by the E3 ligase Siah2.
21981348 2012 The relationship between DNA methylation and telomere length in dyskeratosis congenita.
21852327 2011 Characterization of the DNA binding specificity of Shelterin complexes.
21731707 2011 Transcriptional activation of TINF2, a gene encoding the telomere-associated protein TIN2, by Sp1 and NF-?B factors.
21536674 2011 TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
21477109 2012 Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21355086 2011 Telomeric damage in early stage of chronic lymphocytic leukemia correlates with shelterin dysregulation.
21209389 2010 How shelterin solves the telomere end-protection problem.
21199492 2012 Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
21044950 2011 Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells.
20979174 2010 A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex.
20560964 2010 Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes.
20404094 2010 TIN2-tethered TPP1 recruits human telomerase to telomeres in vivo.
20127252 2010 Expression of TRF1, TRF2, TIN2, TERT, KU70, and BRCA1 proteins is associated with telomere shortening and may contribute to multistage carcinogenesis of gastric cancer.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19487455 2009 GNL3L stabilizes the TRF1 complex and promotes mitotic transition.
19279399 2009 The long and short of it: a new isoform of TIN2 in the nuclear matrix.
19229133 2009 A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix.
19135898 2009 Purification of proteins associated with specific genomic Loci.
19090550 2009 TINF2 mutations in children with severe aplastic anemia.
18669893 2008 TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18443218 2008 Telomere dysfunction and cell survival: roles for distinct TIN2-containing complexes.
18252230 2008 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
18202258 2008 A shared docking motif in TRF1 and TRF2 used for differential recruitment of telomeric proteins.
16880378 2006 A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16166375 2005 Shelterin: the protein complex that shapes and safeguards human telomeres.
15741234 2005 Higher-order nuclear organization in growth arrest of human mammary epithelial cells: a novel role for telomere-associated protein TIN2.
15632001 2005 Up-regulation of telomere-binding proteins, TRF1, TRF2, and TIN2 is related to telomere shortening during human multistep hepatocarcinogenesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15383534 2004 Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.
15380063 2004 A dynamic molecular link between the telomere length regulator TRF1 and the chromosome end protector TRF2.
15316005 2004 TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.
15292264 2004 TIN2 mediates functions of TRF2 at human telomeres.
15231715 2004 POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.
15181449 2004 PTOP interacts with POT1 and regulates its localization to telomeres.
15133513 2004 TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex.
14715659 2004 DNA binding features of human POT1: a nonamer 5'-TAGGGTTAG-3' minimal binding site, sequence specificity, and internal binding to multimeric sites.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12835755 2003 The human telomere-associated protein TIN2 stimulates interactions between telomeric DNA tracts in vitro.
12768206 2003 POT1 as a terminal transducer of TRF1 telomere length control.
12530079 Down-regulation of TRF1, TRF2 and TIN2 genes is important to maintain telomeric DNA for gastric cancers.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11938440 2002 A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.
11701125 2001 The Pin2/TRF1-interacting protein PinX1 is a potent telomerase inhibitor.
10850490 2000 Identification of human Rap1: implications for telomere evolution.
10581025 1999 TIN2, a new regulator of telomere length in human cells.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.