UniProtKB - Q15554 (TERF2_HUMAN)
Telomeric repeat-binding factor 2
TERF2
Functioni
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 512 – 537 | H-T-H motifPROSITE-ProRule annotationAdd BLAST | 26 |
GO - Molecular functioni
- double-stranded telomeric DNA binding Source: BHF-UCL
- enzyme binding Source: BHF-UCL
- G-rich strand telomeric DNA binding Source: BHF-UCL
- protein-containing complex binding Source: BHF-UCL
- protein C-terminus binding Source: UniProtKB
- protein homodimerization activity Source: BHF-UCL
- telomeric DNA binding Source: UniProtKB
GO - Biological processi
- cell cycle Source: UniProtKB-KW
- cellular senescence Source: BHF-UCL
- negative regulation of beta-galactosidase activity Source: BHF-UCL
- negative regulation of cellular senescence Source: BHF-UCL
- negative regulation of exonuclease activity Source: BHF-UCL
- negative regulation of gene expression Source: BHF-UCL
- negative regulation of t-circle formation Source: BHF-UCL
- negative regulation of telomere capping Source: BHF-UCL
- negative regulation of telomere maintenance Source: UniProtKB
- negative regulation of telomere maintenance via recombination Source: BHF-UCL
- negative regulation of telomere maintenance via semi-conservative replication Source: BHF-UCL
- negative regulation of telomere maintenance via telomerase Source: BHF-UCL
- negative regulation of telomere maintenance via telomere lengthening Source: BHF-UCL
- negative regulation of telomere single strand break repair Source: BHF-UCL
- negative regulation of telomeric D-loop disassembly Source: BHF-UCL
- positive regulation of gene expression Source: BHF-UCL
- positive regulation of nitric-oxide synthase activity Source: BHF-UCL
- protection from non-homologous end joining at telomere Source: BHF-UCL
- protein localization to chromosome, telomeric region Source: BHF-UCL
- regulation of telomere maintenance Source: CACAO
- regulation of telomere maintenance via telomerase Source: BHF-UCL
- RNA-dependent DNA biosynthetic process Source: GOC
- telomere capping Source: BHF-UCL
- telomere maintenance Source: UniProtKB
- telomeric D-loop disassembly Source: BHF-UCL
- telomeric loop formation Source: BHF-UCL
Keywordsi
Molecular function | DNA-binding |
Biological process | Cell cycle |
Enzyme and pathway databases
PathwayCommonsi | Q15554 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine R-HSA-110329, Cleavage of the damaged pyrimidine R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-1221632, Meiotic synapsis R-HSA-171306, Packaging Of Telomere Ends R-HSA-171319, Telomere Extension By Telomerase R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-174414, Processive synthesis on the C-strand of the telomere R-HSA-174417, Telomere C-strand (Lagging Strand) Synthesis R-HSA-174430, Telomere C-strand synthesis initiation R-HSA-174437, Removal of the Flap Intermediate from the C-strand R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-9670095, Inhibition of DNA recombination at telomere |
Names & Taxonomyi
Protein namesi | Recommended name: Telomeric repeat-binding factor 2Alternative name(s): TTAGGG repeat-binding factor 2 Telomeric DNA-binding protein |
Gene namesi | Name:TERF2 Synonyms:TRBF2, TRF2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000132604.10 |
HGNCi | HGNC:11729, TERF2 |
MIMi | 602027, gene |
neXtProti | NX_Q15554 |
Subcellular locationi
Nucleus
- nuclear body Source: HPA
- nuclear chromosome, telomeric region Source: BHF-UCL
- nuclear telomere cap complex Source: BHF-UCL
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- shelterin complex Source: BHF-UCL
Other locations
- chromosome, telomeric region Source: UniProtKB
Keywords - Cellular componenti
Chromosome, Nucleus, TelomerePathology & Biotechi
Organism-specific databases
DisGeNETi | 7014 |
OpenTargetsi | ENSG00000132604 |
PharmGKBi | PA36446 |
Miscellaneous databases
Pharosi | Q15554, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4296012 |
Polymorphism and mutation databases
BioMutai | TERF2 |
DMDMi | 21542277 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000197131 | 1 – 542 | Telomeric repeat-binding factor 2Add BLAST | 542 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 59 | Asymmetric dimethylarginine; by PRMT11 Publication | 1 | |
Modified residuei | 60 | Omega-N-methylarginine1 Publication | 1 | |
Modified residuei | 230 | Phosphothreonine; by ATM1 Publication | 1 | |
Cross-linki | 287 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 335 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 353 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 365 | PhosphoserineCombined sources | 1 | |
Cross-linki | 369 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 375 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 452 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugationProteomic databases
CPTACi | CPTAC-3256 CPTAC-3257 CPTAC-956 |
EPDi | Q15554 |
jPOSTi | Q15554 |
MassIVEi | Q15554 |
PaxDbi | Q15554 |
PeptideAtlasi | Q15554 |
PRIDEi | Q15554 |
ProteomicsDBi | 60629 [Q15554-3] |
PTM databases
iPTMneti | Q15554 |
PhosphoSitePlusi | Q15554 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000132604, Expressed in frontal cortex and 243 other tissues |
ExpressionAtlasi | Q15554, baseline and differential |
Genevisiblei | Q15554, HS |
Organism-specific databases
HPAi | ENSG00000132604, Low tissue specificity |
Interactioni
Subunit structurei
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.
12 PublicationsBinary interactionsi
Hide detailsQ15554
GO - Molecular functioni
- enzyme binding Source: BHF-UCL
- protein C-terminus binding Source: UniProtKB
- protein homodimerization activity Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 112873, 283 interactors |
ComplexPortali | CPX-152, Shelterin complex CPX-484, SLX4-TERF2 complex |
CORUMi | Q15554 |
DIPi | DIP-34052N |
ELMi | Q15554 |
IntActi | Q15554, 92 interactors |
MINTi | Q15554 |
STRINGi | 9606.ENSP00000254942 |
Miscellaneous databases
RNActi | Q15554, protein |
Structurei
Secondary structure
3D structure databases
SASBDBi | Q15554 |
SMRi | Q15554 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q15554 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 484 – 541 | HTH myb-typePROSITE-ProRule annotationAdd BLAST | 58 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 84 – 287 | TRFH dimerizationAdd BLAST | 204 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 371 – 375 | Nuclear localization signalSequence analysis | 5 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 55 – 72 | Arg-rich (basic)Add BLAST | 18 |
Domaini
Phylogenomic databases
eggNOGi | ENOG502RYHN, Eukaryota |
GeneTreei | ENSGT00940000158316 |
HOGENOMi | CLU_034265_1_1_1 |
InParanoidi | Q15554 |
OMAi | TVQESEW |
OrthoDBi | 605826at2759 |
TreeFami | TF333209 |
Family and domain databases
CDDi | cd11654, TRF2_RBM, 1 hit |
Gene3Di | 1.25.40.210, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017930, Myb_dom IPR001005, SANT/Myb IPR013867, Telomere_rpt-bd_fac_dimer_dom IPR036507, Telomere_rpt-bd_fac_dimer_sf IPR017357, TERF1/2 IPR030657, TERF2 IPR031902, TERF2_RBM |
PANTHERi | PTHR46833, PTHR46833, 1 hit |
Pfami | View protein in Pfam PF00249, Myb_DNA-binding, 1 hit PF16772, TERF2_RBM, 1 hit PF08558, TRF, 1 hit |
PIRSFi | PIRSF038016, Telomere_bd-1_Pin2, 1 hit |
SMARTi | View protein in SMART SM00717, SANT, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF63600, SSF63600, 1 hit |
PROSITEi | View protein in PROSITE PS51294, HTH_MYB, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAGAGTAGP ASGPGVVRDP AASQPRKRPG REGGEGARRS DTMAGGGGSS
60 70 80 90 100
DGSGRAAGRR ASRSSGRARR GRHEPGLGGP AERGAGEARL EEAVNRWVLK
110 120 130 140 150
FYFHEALRAF RGSRYGDFRQ IRDIMQALLV RPLGKEHTVS RLLRVMQCLS
160 170 180 190 200
RIEEGENLDC SFDMEAELTP LESAINVLEM IKTEFTLTEA VVESSRKLVK
210 220 230 240 250
EAAVIICIKN KEFEKASKIL KKHMSKDPTT QKLRNDLLNI IREKNLAHPV
260 270 280 290 300
IQNFSYETFQ QKMLRFLESH LDDAEPYLLT MAKKALKSES AASSTGKEDK
310 320 330 340 350
QPAPGPVEKP PREPARQLRN PPTTIGMMTL KAAFKTLSGA QDSEAAFAKL
360 370 380 390 400
DQKDLVLPTQ ALPASPALKN KRPRKDENES SAPADGEGGS ELQPKNKRMT
410 420 430 440 450
ISRLVLEEDS QSTEPSAGLN SSQEAASAPP SKPTVLNQPL PGEKNPKVPK
460 470 480 490 500
GKWNSSNGVE EKETWVEEDE LFQVQAAPDE DSTTNITKKQ KWTVEESEWV
510 520 530 540
KAGVQKYGEG NWAAISKNYP FVNRTAVMIK DRWRTMKRLG MN
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketU3KQ35 | U3KQ35_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 244 | Annotation score: | ||
H3BR06 | H3BR06_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 283 | Annotation score: | ||
J3KSZ6 | J3KSZ6_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 144 | Annotation score: | ||
H3BTA7 | H3BTA7_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 206 | Annotation score: | ||
V9GYM1 | V9GYM1_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 86 | Annotation score: | ||
J3KSJ9 | J3KSJ9_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 99 | Annotation score: | ||
H3BR37 | H3BR37_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 60 | Annotation score: | ||
J3KTN8 | J3KTN8_HUMAN | Telomeric repeat-binding factor 2 | TERF2 | 49 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_050196 | 455 | S → G. Corresponds to variant dbSNP:rs35874485Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003304 | 281 – 293 | MAKKA…ESAAS → VRLGPSPITMVCP in isoform 2. 1 PublicationAdd BLAST | 13 | |
Alternative sequenceiVSP_003305 | 294 – 542 | Missing in isoform 2. 1 PublicationAdd BLAST | 249 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC026464 Genomic DNA No translation available. BC024890 mRNA Translation: AAH24890.1 Different initiation. AF002999 mRNA Translation: AAB81135.1 Sequence problems. U95970 mRNA Translation: AAD00821.1 X93512 mRNA Translation: CAA63769.1 |
CCDSi | CCDS10879.2 [Q15554-3] |
PIRi | S67923 |
RefSeqi | NP_005643.2, NM_005652.4 [Q15554-3] |
Genome annotation databases
Ensembli | ENST00000254942; ENSP00000254942; ENSG00000132604 [Q15554-3] ENST00000567296; ENSP00000454955; ENSG00000132604 [Q15554-4] |
GeneIDi | 7014 |
KEGGi | hsa:7014 |
UCSCi | uc002exd.5, human [Q15554-3] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC026464 Genomic DNA No translation available. BC024890 mRNA Translation: AAH24890.1 Different initiation. AF002999 mRNA Translation: AAB81135.1 Sequence problems. U95970 mRNA Translation: AAD00821.1 X93512 mRNA Translation: CAA63769.1 |
CCDSi | CCDS10879.2 [Q15554-3] |
PIRi | S67923 |
RefSeqi | NP_005643.2, NM_005652.4 [Q15554-3] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1H6P | X-ray | 2.20 | A/B | 85-287 | [»] | |
1VF9 | NMR | - | A | 480-542 | [»] | |
1VFC | NMR | - | A | 480-542 | [»] | |
1W0U | X-ray | 1.80 | A/B | 488-542 | [»] | |
1XG1 | NMR | - | A | 480-542 | [»] | |
3BU8 | X-ray | 2.15 | A/B | 84-318 | [»] | |
3BUA | X-ray | 2.50 | A/B/C/D | 84-287 | [»] | |
3K6G | X-ray | 1.95 | D/E/F | 317-358 | [»] | |
3SJM | X-ray | 1.35 | A/B | 483-542 | [»] | |
4M7C | X-ray | 2.05 | A/B | 87-286 | [»] | |
4RQI | X-ray | 2.44 | A/B/C/D | 85-287 | [»] | |
5WQD | X-ray | 3.00 | A/B/C/D/E/F/G | 84-287 | [»] | |
5XYF | X-ray | 2.20 | C | 392-408 | [»] | |
6J67 | X-ray | 2.05 | A | 84-287 | [»] | |
SASBDBi | Q15554 | |||||
SMRi | Q15554 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112873, 283 interactors |
ComplexPortali | CPX-152, Shelterin complex CPX-484, SLX4-TERF2 complex |
CORUMi | Q15554 |
DIPi | DIP-34052N |
ELMi | Q15554 |
IntActi | Q15554, 92 interactors |
MINTi | Q15554 |
STRINGi | 9606.ENSP00000254942 |
Chemistry databases
ChEMBLi | CHEMBL4296012 |
PTM databases
iPTMneti | Q15554 |
PhosphoSitePlusi | Q15554 |
Polymorphism and mutation databases
BioMutai | TERF2 |
DMDMi | 21542277 |
Proteomic databases
CPTACi | CPTAC-3256 CPTAC-3257 CPTAC-956 |
EPDi | Q15554 |
jPOSTi | Q15554 |
MassIVEi | Q15554 |
PaxDbi | Q15554 |
PeptideAtlasi | Q15554 |
PRIDEi | Q15554 |
ProteomicsDBi | 60629 [Q15554-3] |
Protocols and materials databases
Antibodypediai | 1053, 575 antibodies |
CPTCi | Q15554, 3 antibodies |
Genome annotation databases
Ensembli | ENST00000254942; ENSP00000254942; ENSG00000132604 [Q15554-3] ENST00000567296; ENSP00000454955; ENSG00000132604 [Q15554-4] |
GeneIDi | 7014 |
KEGGi | hsa:7014 |
UCSCi | uc002exd.5, human [Q15554-3] |
Organism-specific databases
CTDi | 7014 |
DisGeNETi | 7014 |
EuPathDBi | HostDB:ENSG00000132604.10 |
GeneCardsi | TERF2 |
HGNCi | HGNC:11729, TERF2 |
HPAi | ENSG00000132604, Low tissue specificity |
MIMi | 602027, gene |
neXtProti | NX_Q15554 |
OpenTargetsi | ENSG00000132604 |
PharmGKBi | PA36446 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RYHN, Eukaryota |
GeneTreei | ENSGT00940000158316 |
HOGENOMi | CLU_034265_1_1_1 |
InParanoidi | Q15554 |
OMAi | TVQESEW |
OrthoDBi | 605826at2759 |
TreeFami | TF333209 |
Enzyme and pathway databases
PathwayCommonsi | Q15554 |
Reactomei | R-HSA-110328, Recognition and association of DNA glycosylase with site containing an affected pyrimidine R-HSA-110329, Cleavage of the damaged pyrimidine R-HSA-110330, Recognition and association of DNA glycosylase with site containing an affected purine R-HSA-110331, Cleavage of the damaged purine R-HSA-1221632, Meiotic synapsis R-HSA-171306, Packaging Of Telomere Ends R-HSA-171319, Telomere Extension By Telomerase R-HSA-174411, Polymerase switching on the C-strand of the telomere R-HSA-174414, Processive synthesis on the C-strand of the telomere R-HSA-174417, Telomere C-strand (Lagging Strand) Synthesis R-HSA-174430, Telomere C-strand synthesis initiation R-HSA-174437, Removal of the Flap Intermediate from the C-strand R-HSA-2559586, DNA Damage/Telomere Stress Induced Senescence R-HSA-9670095, Inhibition of DNA recombination at telomere |
Miscellaneous databases
BioGRID-ORCSi | 7014, 406 hits in 477 CRISPR screens |
ChiTaRSi | TERF2, human |
EvolutionaryTracei | Q15554 |
GeneWikii | TERF2 |
GenomeRNAii | 7014 |
Pharosi | Q15554, Tbio |
PROi | PR:Q15554 |
RNActi | Q15554, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132604, Expressed in frontal cortex and 243 other tissues |
ExpressionAtlasi | Q15554, baseline and differential |
Genevisiblei | Q15554, HS |
Family and domain databases
CDDi | cd11654, TRF2_RBM, 1 hit |
Gene3Di | 1.25.40.210, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR017930, Myb_dom IPR001005, SANT/Myb IPR013867, Telomere_rpt-bd_fac_dimer_dom IPR036507, Telomere_rpt-bd_fac_dimer_sf IPR017357, TERF1/2 IPR030657, TERF2 IPR031902, TERF2_RBM |
PANTHERi | PTHR46833, PTHR46833, 1 hit |
Pfami | View protein in Pfam PF00249, Myb_DNA-binding, 1 hit PF16772, TERF2_RBM, 1 hit PF08558, TRF, 1 hit |
PIRSFi | PIRSF038016, Telomere_bd-1_Pin2, 1 hit |
SMARTi | View protein in SMART SM00717, SANT, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF63600, SSF63600, 1 hit |
PROSITEi | View protein in PROSITE PS51294, HTH_MYB, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TERF2_HUMAN | |
Accessioni | Q15554Primary (citable) accession number: Q15554 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2002 |
Last sequence update: | April 16, 2014 | |
Last modified: | December 2, 2020 | |
This is version 212 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations