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Aliases for TERF2 Gene

Aliases for TERF2 Gene

  • Telomeric Repeat Binding Factor 2 2 3
  • TRF2 3 4 6
  • TTAGGG Repeat-Binding Factor 2 3 4
  • Telomeric DNA-Binding Protein 3 4
  • TRBF2 3 4
  • Telomeric Repeat Binding Protein 2 3
  • Telomeric Repeat-Binding Factor 2 3

External Ids for TERF2 Gene

Previous HGNC Symbols for TERF2 Gene

  • TRBF2

Previous GeneCards Identifiers for TERF2 Gene

  • GC16M060074
  • GC16M069767
  • GC16M069124
  • GC16M069165
  • GC16M067947
  • GC16M069389
  • GC16M055267

Summaries for TERF2 Gene

Entrez Gene Summary for TERF2 Gene

  • 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]

GeneCards Summary for TERF2 Gene

TERF2 (Telomeric Repeat Binding Factor 2) is a Protein Coding gene. Diseases associated with TERF2 include lung cancer. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Cell Cycle, Mitotic. GO annotations related to this gene include protein homodimerization activity and protein C-terminus binding. An important paralog of this gene is TERF1.

UniProtKB/Swiss-Prot for TERF2 Gene

  • 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.

Gene Wiki entry for TERF2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERF2 Gene

Genomics for TERF2 Gene

Regulatory Elements for TERF2 Gene

Genomic Location for TERF2 Gene

Start:
69,355,561 bp from pter
End:
69,408,571 bp from pter
Size:
53,011 bases
Orientation:
Minus strand

Genomic View for TERF2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TERF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERF2 Gene

Proteins for TERF2 Gene

  • Protein details for TERF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15554-TERF2_HUMAN
    Recommended name:
    Telomeric repeat-binding factor 2
    Protein Accession:
    Q15554
    Secondary Accessions:

    Protein attributes for TERF2 Gene

    Size:
    542 amino acids
    Molecular mass:
    59594 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAB81135.1; Type=Frameshift; Positions=36; Evidence={ECO:0000305}; Sequence=AAB81135.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The N-terminus may be contaminated with vector sequence.; Evidence={ECO:0000305}; Sequence=AAH24890.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TERF2 Gene

    Alternative splice isoforms for TERF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TERF2 Gene

Proteomics data for TERF2 Gene at MOPED

Post-translational modifications for TERF2 Gene

  • Methylated by PRMT1 at multiple arginines within the N-terminal Arg-rich region. Methylation may control association with telomeres.
  • Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly localizes to damage sites.
  • Ubiquitination at Lys293
  • Modification sites at PhosphoSitePlus

Other Protein References for TERF2 Gene

No data available for DME Specific Peptides for TERF2 Gene

Domains for TERF2 Gene

Suggested Antigen Peptide Sequences for TERF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15554

UniProtKB/Swiss-Prot:

TERF2_HUMAN :
  • Q15554
Domain:
  • The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2.
  • The HTH domain is an independent structural unit and mediates binding to telomeric DNA.
  • Contains 1 HTH myb-type DNA-binding domain.
genes like me logo Genes that share domains with TERF2: view

No data available for Gene Families for TERF2 Gene

Function for TERF2 Gene

Molecular function for TERF2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for TERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003682 chromatin binding IEA --
GO:0003691 double-stranded telomeric DNA binding ISS 9326950
GO:0005515 protein binding IPI 10984620
GO:0008022 protein C-terminus binding IPI 12181313
genes like me logo Genes that share ontologies with TERF2: view

Phenotypes for TERF2 Gene

genes like me logo Genes that share phenotypes with TERF2: view

Animal Models for TERF2 Gene

MGI Knock Outs for TERF2:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TERF2 Gene

Localization for TERF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TERF2 Gene

Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA in interphase cells and is located at chromosome ends during metaphase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TERF2 Gene COMPARTMENTS Subcellular localization image for TERF2 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for TERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 12768206
GO:0000783 nuclear telomere cap complex IDA 15181449
GO:0000784 nuclear chromosome, telomeric region IBA --
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with TERF2: view

Pathways for TERF2 Gene

genes like me logo Genes that share pathways with TERF2: view

Pathways by source for TERF2 Gene

2 Cell Signaling Technology pathways for TERF2 Gene

Gene Ontology (GO) - Biological Process for TERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS --
GO:0001309 age-dependent telomere shortening --
GO:0001701 in utero embryonic development IEA --
GO:0007004 telomere maintenance via telomerase IC 15657433
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with TERF2: view

Compounds for TERF2 Gene

(7) Novoseek inferred chemical compound relationships for TERF2 Gene

Compound -log(P) Hits PubMed IDs
tin(2+) 97.7 55
telomestatin 68.9 5
arsenite 31.7 5
adpribose 17.2 1
oligonucleotide 11 2
genes like me logo Genes that share compounds with TERF2: view

Transcripts for TERF2 Gene

Unigene Clusters for TERF2 Gene

Telomeric repeat binding factor 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TERF2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - -
SP2:
SP3: -

Relevant External Links for TERF2 Gene

GeneLoc Exon Structure for
TERF2
ECgene alternative splicing isoforms for
TERF2

Expression for TERF2 Gene

mRNA expression in normal human tissues for TERF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TERF2 Gene

SOURCE GeneReport for Unigene cluster for TERF2 Gene Hs.63335

mRNA Expression by UniProt/SwissProt for TERF2 Gene

Q15554-TERF2_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon and peripheral blood leukocytes
genes like me logo Genes that share expressions with TERF2: view

No data available for mRNA differential expression in normal tissues for TERF2 Gene

Orthologs for TERF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TERF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TERF2 35
  • 98.8 (n)
  • 97.88 (a)
TERF2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TERF2 35
  • 91.13 (n)
  • 90 (a)
TERF2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TERF2 35
  • 92.87 (n)
  • 92.05 (a)
TERF2 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Terf2 35
  • 87.66 (n)
  • 85.5 (a)
Terf2 16
Terf2 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TERF2 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TERF2 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Terf2 35
  • 87.37 (n)
  • 85.01 (a)
chicken
(Gallus gallus)
Aves TERF2 35
  • 64.4 (n)
  • 54.99 (a)
TERF2 36
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TERF2 36
  • 25 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia terf2 35
  • 53.24 (n)
  • 44.84 (a)
zebrafish
(Danio rerio)
Actinopterygii terfa 35
  • 47.11 (n)
  • 36.44 (a)
terfa 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5936 36
  • 24 (a)
OneToMany
Species with no ortholog for TERF2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TERF2 Gene

ENSEMBL:
Gene Tree for TERF2 (if available)
TreeFam:
Gene Tree for TERF2 (if available)

Paralogs for TERF2 Gene

Paralogs for TERF2 Gene

Selected SIMAP similar genes for TERF2 Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with TERF2: view

Variants for TERF2 Gene

Sequence variations from dbSNP and Humsavar for TERF2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs153045 -- 69,363,490(+) TGTAA(C/T)GGGCT intron-variant
rs166134 -- 69,374,012(-) AGGGC(A/G)TTTGA intron-variant
rs183633 -- 69,359,495(-) gctgg(A/G)gtgca intron-variant
rs251796 -- 69,361,531(+) AATTC(A/G)CCCTG intron-variant
rs251797 -- 69,377,564(-) cggat(C/T)atgag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TERF2 Gene

Variant ID Type Subtype PubMed ID
esv269474 CNV Insertion 20981092
esv272592 CNV Insertion 20981092
nsv509629 CNV Insertion 20534489

Relevant External Links for TERF2 Gene

HapMap Linkage Disequilibrium report
TERF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERF2 Gene

Disorders for TERF2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for TERF2 Gene including...

Search for TERF2 Gene in MalaCards »

(21) Novoseek inferred disease relationships for TERF2 Gene

Disease -log(P) Hits PubMed IDs
werner syndrome 64.6 2
promyelocytic leukemia 53.8 1
nijmegen breakage syndrome 44.1 1
bloom syndrome 37.9 1
ataxia telangiectasia 36.5 1

Relevant External Links for TERF2

Genetic Association Database (GAD)
TERF2
Human Genome Epidemiology (HuGE) Navigator
TERF2
genes like me logo Genes that share disorders with TERF2: view

No data available for UniProtKB/Swiss-Prot for TERF2 Gene

Publications for TERF2 Gene

  1. Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2. (PMID: 9326950) Broccoli D. … de Lange T. (Nat. Genet. 1997) 2 3 4 23
  2. TRF2 protects human telomeres from end-to-end fusions. (PMID: 9476899) van Steensel B. … de Lange T. (Cell 1998) 3 4 23
  3. Chromosomal sublocalization of the transcribed human telomere repeat binding factor 2 gene and comparative mapping in the mouse. (PMID: 10226653) Sakaguchi A.Y. … Giambernardi T.A. (Somat. Cell Mol. Genet. 1998) 2 3 23
  4. Structure of the TRFH dimerization domain of the human telomeric proteins TRF1 and TRF2. (PMID: 11545737) Fairall L. … Rhodes D. (Mol. Cell 2001) 3 4 23
  5. Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. (PMID: 10888888) Zhu X.-D. … de Lange T. (Nat. Genet. 2000) 3 4 23

Products for TERF2 Gene

  • Addgene plasmids for TERF2

Sources for TERF2 Gene

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