ID:TERF2_HUMAN DESCRIPTION: RecName: Full=Telomeric repeat-binding factor 2; AltName: Full=TTAGGG repeat-binding factor 2; AltName: Full=Telomeric DNA-binding protein; FUNCTION: Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' 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. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single- stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology- directed repair (HDR), which can affect telomere length. SUBUNIT: Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP/RAP1, ACD and POT1. Interacts with TERF2IP. Interacts with NBN. Interacts with SLX4/BTBD12. Interacts with DCLRE1B/Apollo and TERF2IP/RAP1; the interaction is direct. INTERACTION: P54132:BLM; NbExp=8; IntAct=EBI-706637, EBI-621372; Q9H816:DCLRE1B; NbExp=6; IntAct=EBI-706637, EBI-3508943; Q9NUX5:POT1; NbExp=3; IntAct=EBI-706637, EBI-752420; Q8IY92:SLX4; NbExp=5; IntAct=EBI-706637, EBI-2370740; Q9NYB0:TERF2IP; NbExp=5; IntAct=EBI-706637, EBI-750109; Q9BSI4-3:TINF2; NbExp=4; IntAct=EBI-706637, EBI-717418; Q14191:WRN; NbExp=8; IntAct=EBI-706637, EBI-368417; SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase. TISSUE SPECIFICITY: Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes. DOMAIN: The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2. DOMAIN: The HTH domain is an independent structural unit and mediates binding to telomeric DNA. PTM: Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites. PTM: Methylated by PRMT1 at multiple arginines within the N- terminal Arg-rich region. Methylation may control association with telomeres. SIMILARITY: Contains 1 HTH myb-type DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15554
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0003691 double-stranded telomeric DNA binding GO:0005515 protein binding GO:0008022 protein C-terminus binding GO:0019899 enzyme binding GO:0042162 telomeric DNA binding GO:0042803 protein homodimerization activity GO:0044877 macromolecular complex binding GO:0098505 G-rich strand telomeric DNA binding GO:0003720 telomerase activity
Biological Process: GO:0000723 telomere maintenance GO:0006278 RNA-dependent DNA biosynthetic process GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007049 cell cycle GO:0010628 positive regulation of gene expression GO:0010629 negative regulation of gene expression GO:0016233 telomere capping GO:0031627 telomeric loop formation GO:0031848 protection from non-homologous end joining at telomere GO:0032204 regulation of telomere maintenance GO:0032205 negative regulation of telomere maintenance GO:0032208 negative regulation of telomere maintenance via recombination GO:0032210 regulation of telomere maintenance via telomerase GO:0032211 negative regulation of telomere maintenance via telomerase GO:0032214 negative regulation of telomere maintenance via semi-conservative replication GO:0051000 positive regulation of nitric-oxide synthase activity GO:0061820 telomeric D-loop disassembly GO:0070198 protein localization to chromosome, telomeric region GO:0090398 cellular senescence GO:1903770 negative regulation of beta-galactosidase activity GO:1903824 negative regulation of telomere single strand break repair GO:1904354 negative regulation of telomere capping GO:1904357 negative regulation of telomere maintenance via telomere lengthening GO:1904430 negative regulation of t-circle formation GO:1905778 negative regulation of exonuclease activity GO:2000773 negative regulation of cellular senescence
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Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
