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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
16
Cytoband
q22.1
Chromosome location (bp)
69355567 - 69408571
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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 1,2,3,4,5,6,7. 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 8,9. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection 10. 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 11. 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 12. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo 13,14. Preferentially binds to positive supercoiled DNA 15,16. 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 17. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0001673[male germ cell nucleus] GO:0001701[in utero embryonic development] GO:0003677[DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003720[telomerase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006278[RNA-templated DNA biosynthetic process] GO:0007049[cell cycle] GO:0008022[protein C-terminus binding] GO:0008089[anterograde axonal transport] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0016233[telomere capping] GO:0016604[nuclear body] GO:0019899[enzyme binding] 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:0032206[positive 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:0042162[telomeric DNA binding] GO:0042803[protein homodimerization activity] GO:0043229[intracellular organelle] GO:0044877[protein-containing complex binding] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0061820[telomeric D-loop disassembly] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:0090398[cellular senescence] GO:0098505[G-rich strand telomeric DNA binding] GO:0099088[axonal transport of messenger ribonucleoprotein complex] GO:1903770[negative regulation of beta-galactosidase activity] GO:1903824[negative regulation of telomere single strand break repair] GO:1904115[axon cytoplasm] 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:1905839[negative regulation of telomeric D-loop disassembly] GO:2000773[negative regulation of cellular senescence]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000723[telomere maintenance] GO:0000781[chromosome, telomeric region] GO:0000783[nuclear telomere cap complex] GO:0003677[DNA binding] GO:0003691[double-stranded telomeric DNA binding] GO:0003720[telomerase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0006278[RNA-templated DNA biosynthetic process] GO:0007049[cell cycle] GO:0008022[protein C-terminus binding] GO:0010628[positive regulation of gene expression] GO:0010629[negative regulation of gene expression] GO:0016233[telomere capping] GO:0016604[nuclear body] GO:0019899[enzyme binding] 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:0032206[positive 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:0042162[telomeric DNA binding] GO:0042803[protein homodimerization activity] GO:0043229[intracellular organelle] GO:0044877[protein-containing complex binding] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0061820[telomeric D-loop disassembly] GO:0070187[shelterin complex] GO:0070198[protein localization to chromosome, telomeric region] GO:0090398[cellular senescence] GO:0098505[G-rich strand telomeric DNA binding] GO:1903770[negative regulation of beta-galactosidase activity] GO:1903824[negative regulation of telomere single strand break repair] GO:1904115[axon cytoplasm] 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:1905839[negative regulation of telomeric D-loop disassembly] GO:2000773[negative regulation of cellular senescence]
The Human Protein Atlas project is funded
