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

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
tuberculosis and treatment for 6 months -1.100 0.000
ovarian cancer 1.400 0.001

Synonym

Accession Q9BSI4 B3W5Q7 Q9H904 Q9UHC2
Symbols TIN2
DKCA3

Gene

PDB

3BQO   3BU8  

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.
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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.
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