| Tbio | TERF1-interacting nuclear factor 2 |
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Plays a role in shelterin complex assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix.
This gene 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. [provided by RefSeq, Mar 2010]
This gene 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. [provided by RefSeq, Mar 2010]
Comments
Property Summary
| NCBI Gene PubMed Count | 58 |
| Grant Count | 64 |
| R01 Count | 40 |
| Funding | $3,739,239.38 |
| PubMed Score | 89.79 |
| PubTator Score | 72.75 |
| Disease | log2 FC | p |
|---|---|---|
| tuberculosis and treatment for 6 months | -1.100 | 0.000 |
| ovarian cancer | 1.400 | 0.001 |
| 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. |
| More... |
MATPLVAGPAALRFAAAASWQVVRGRCVEHFPRVLEFLRSLRAVAPGLVRYRHHERLCMGLKAKVVVELI 1 - 70 LQGRPWAQVLKALNHHFPESGPIVRDPKATKQDLRKILEAQETFYQQVKQLSEAPVDLASKLQELEQEYG 71 - 140 EPFLAAMEKLLFEYLCQLEKALPTPQAQQLQDVLSWMQPGVSITSSLAWRQYGVDMGWLLPECSVTDSVN 141 - 210 LAEPMEQNPPQQQRLALHNPLPKAKPGTHLPQGPSSRTHPEPLAGRHFNLAPLGRRRVQSQWASTRGGHK 211 - 280 ERPTVMLFPFRNLGSPTQVISKPESKEEHAIYTADLAMGTRAASTGKSKSPCQTLGGRALKENPVDLPAT 281 - 350 EQKENCLDCYMDPLRLSLLPPRARKPVCPPSLCSSVITIGDLVLDSDEEENGQGEGKESLENYQKTKFDT 351 - 420 LIPTLCEYLPPSGHGAIPVSSCDCRDSSRPL 421 - 451 //
| 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. |
| More... |
