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Protein

Telomeric repeat-binding factor 2

Gene

TERF2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi512 – 537H-T-H motifPROSITE-ProRule annotationAdd BLAST26

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processCell cycle

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Telomeric repeat-binding factor 2
Alternative name(s):
TTAGGG repeat-binding factor 2
Telomeric DNA-binding protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TERF2
Synonyms:TRBF2, TRF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000132604.10

Human Gene Nomenclature Database

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HGNCi
HGNC:11729 TERF2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602027 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q15554

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...
DisGeNETi
7014

Open Targets

More...
OpenTargetsi
ENSG00000132604

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36446

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TERF2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
21542277

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001971311 – 542Telomeric repeat-binding factor 2Add BLAST542

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei59Asymmetric dimethylarginine; by PRMT11 Publication1
Modified residuei60Omega-N-methylarginine1 Publication1
Modified residuei230Phosphothreonine; by ATM1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki287Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki335Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki353Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei365PhosphoserineCombined sources1
Cross-linki369Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki375Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki452Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites.1 Publication
Methylated by PRMT1 at multiple arginines within the N-terminal Arg-rich region. Methylation may control association with telomeres.1 Publication

Keywords - PTMi

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q15554

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q15554

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q15554

PeptideAtlas

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PeptideAtlasi
Q15554

PRoteomics IDEntifications database

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PRIDEi
Q15554

ProteomicsDB human proteome resource

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ProteomicsDBi
60629

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15554

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q15554

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000132604 Expressed in 231 organ(s), highest expression level in frontal cortex

CleanEx database of gene expression profiles

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CleanExi
HS_TERF2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q15554 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q15554 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB010451
HPA001907
HPA002735

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112873, 271 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-152 Shelterin complex
CPX-484 SLX4-TERF2 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q15554

Database of interacting proteins

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DIPi
DIP-34052N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q15554

Protein interaction database and analysis system

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IntActi
Q15554, 79 interactors

Molecular INTeraction database

More...
MINTi
Q15554

STRING: functional protein association networks

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STRINGi
9606.ENSP00000254942

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1542
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H6PX-ray2.20A/B85-287[»]
1VF9NMR-A480-542[»]
1VFCNMR-A480-542[»]
1W0UX-ray1.80A/B488-542[»]
1XG1NMR-A480-542[»]
3BU8X-ray2.15A/B84-318[»]
3BUAX-ray2.50A/B/C/D84-287[»]
3K6GX-ray1.95D/E/F317-358[»]
3SJMX-ray1.35A/B483-542[»]
4M7CX-ray2.05A/B87-286[»]
4RQIX-ray2.44A/B/C/D85-287[»]
5WQDX-ray3.00A/B/C/D/E/F/G84-287[»]
5XYFX-ray2.20C392-408[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q15554

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q15554

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q15554

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini484 – 541HTH myb-typePROSITE-ProRule annotationAdd BLAST58

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni84 – 287TRFH dimerizationAdd BLAST204

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi371 – 375Nuclear localization signalSequence analysis5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi55 – 72Arg-rich (basic)Add BLAST18

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2.1 Publication
The HTH domain is an independent structural unit and mediates binding to telomeric DNA.1 Publication

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJXM Eukaryota
ENOG4111KJ3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158316

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000154547

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG108560

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q15554

KEGG Orthology (KO)

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KOi
K11111

Identification of Orthologs from Complete Genome Data

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OMAi
NPKVPKG

Database of Orthologous Groups

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OrthoDBi
605826at2759

TreeFam database of animal gene trees

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TreeFami
TF333209

Family and domain databases

Conserved Domains Database

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CDDi
cd11654 TRF2_RBM, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.210, 1 hit

Integrated resource of protein families, domains and functional sites

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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

The PANTHER Classification System

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PANTHERi
PTHR21717:SF13 PTHR21717:SF13, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00249 Myb_DNA-binding, 1 hit
PF16772 TERF2_RBM, 1 hit
PF08558 TRF, 1 hit

PIRSF; a whole-protein classification database

More...
PIRSFi
PIRSF038016 Telomere_bd-1_Pin2, 1 hit

ProDom; a protein domain database

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ProDomi
View protein in ProDom or Entries sharing at least one domain
PD014243 Telomere_repeat-bd_fac_dimer, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00717 SANT, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46689 SSF46689, 1 hit
SSF63600 SSF63600, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51294 HTH_MYB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15554-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:542
Mass (Da):59,594
Last modified:April 16, 2014 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3A278AC6B594C43A
GO
Isoform 2 (identifier: Q15554-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     281-293: MAKKALKSESAAS → VRLGPSPITMVCP
     294-542: Missing.

Note: No experimental confirmation available.
Show »
Length:293
Mass (Da):32,298
Checksum:iF9B31F886F3D3C23
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BR06H3BR06_HUMAN
Telomeric repeat-binding factor 2
TERF2
283Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQ35U3KQ35_HUMAN
Telomeric repeat-binding factor 2
TERF2
244Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSZ6J3KSZ6_HUMAN
Telomeric repeat-binding factor 2
TERF2
144Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BTA7H3BTA7_HUMAN
Telomeric repeat-binding factor 2
TERF2
206Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KSJ9J3KSJ9_HUMAN
Telomeric repeat-binding factor 2
TERF2
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
V9GYM1V9GYM1_HUMAN
Telomeric repeat-binding factor 2
TERF2
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BR37H3BR37_HUMAN
Telomeric repeat-binding factor 2
TERF2
60Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KTN8J3KTN8_HUMAN
Telomeric repeat-binding factor 2
TERF2
49Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB81135 differs from that shown. Contaminating sequence. The N-terminus may be contaminated with vector sequence.Curated
The sequence AAB81135 differs from that shown. Reason: Frameshift at position 36.Curated
The sequence AAH24890 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050196455S → G. Corresponds to variant dbSNP:rs35874485Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_003304281 – 293MAKKA…ESAAS → VRLGPSPITMVCP in isoform 2. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_003305294 – 542Missing in isoform 2. 1 PublicationAdd BLAST249

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10879.2 [Q15554-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
S67923

NCBI Reference Sequences

More...
RefSeqi
NP_005643.2, NM_005652.4 [Q15554-3]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.63335

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000254942; ENSP00000254942; ENSG00000132604 [Q15554-3]
ENST00000567296; ENSP00000454955; ENSG00000132604 [Q15554-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7014

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7014

UCSC genome browser

More...
UCSCi
uc002exd.5 human [Q15554-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS10879.2 [Q15554-3]
PIRiS67923
RefSeqiNP_005643.2, NM_005652.4 [Q15554-3]
UniGeneiHs.63335

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1H6PX-ray2.20A/B85-287[»]
1VF9NMR-A480-542[»]
1VFCNMR-A480-542[»]
1W0UX-ray1.80A/B488-542[»]
1XG1NMR-A480-542[»]
3BU8X-ray2.15A/B84-318[»]
3BUAX-ray2.50A/B/C/D84-287[»]
3K6GX-ray1.95D/E/F317-358[»]
3SJMX-ray1.35A/B483-542[»]
4M7CX-ray2.05A/B87-286[»]
4RQIX-ray2.44A/B/C/D85-287[»]
5WQDX-ray3.00A/B/C/D/E/F/G84-287[»]
5XYFX-ray2.20C392-408[»]
ProteinModelPortaliQ15554
SMRiQ15554
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112873, 271 interactors
ComplexPortaliCPX-152 Shelterin complex
CPX-484 SLX4-TERF2 complex
CORUMiQ15554
DIPiDIP-34052N
ELMiQ15554
IntActiQ15554, 79 interactors
MINTiQ15554
STRINGi9606.ENSP00000254942

PTM databases

iPTMnetiQ15554
PhosphoSitePlusiQ15554

Polymorphism and mutation databases

BioMutaiTERF2
DMDMi21542277

Proteomic databases

EPDiQ15554
jPOSTiQ15554
PaxDbiQ15554
PeptideAtlasiQ15554
PRIDEiQ15554
ProteomicsDBi60629

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254942; ENSP00000254942; ENSG00000132604 [Q15554-3]
ENST00000567296; ENSP00000454955; ENSG00000132604 [Q15554-4]
GeneIDi7014
KEGGihsa:7014
UCSCiuc002exd.5 human [Q15554-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7014
DisGeNETi7014
EuPathDBiHostDB:ENSG00000132604.10

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TERF2
HGNCiHGNC:11729 TERF2
HPAiCAB010451
HPA001907
HPA002735
MIMi602027 gene
neXtProtiNX_Q15554
OpenTargetsiENSG00000132604
PharmGKBiPA36446

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJXM Eukaryota
ENOG4111KJ3 LUCA
GeneTreeiENSGT00940000158316
HOGENOMiHOG000154547
HOVERGENiHBG108560
InParanoidiQ15554
KOiK11111
OMAiNPKVPKG
OrthoDBi605826at2759
TreeFamiTF333209

Enzyme and pathway databases

ReactomeiR-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TERF2 human
EvolutionaryTraceiQ15554

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TERF2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7014

Protein Ontology

More...
PROi
PR:Q15554

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132604 Expressed in 231 organ(s), highest expression level in frontal cortex
CleanExiHS_TERF2
ExpressionAtlasiQ15554 baseline and differential
GenevisibleiQ15554 HS

Family and domain databases

CDDicd11654 TRF2_RBM, 1 hit
Gene3Di1.25.40.210, 1 hit
InterProiView 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
PANTHERiPTHR21717:SF13 PTHR21717:SF13, 1 hit
PfamiView protein in Pfam
PF00249 Myb_DNA-binding, 1 hit
PF16772 TERF2_RBM, 1 hit
PF08558 TRF, 1 hit
PIRSFiPIRSF038016 Telomere_bd-1_Pin2, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD014243 Telomere_repeat-bd_fac_dimer, 1 hit
SMARTiView protein in SMART
SM00717 SANT, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF63600 SSF63600, 1 hit
PROSITEiView protein in PROSITE
PS51294 HTH_MYB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTERF2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15554
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: April 16, 2014
Last modified: January 16, 2019
This is version 197 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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