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Aliases for TERF2 Gene

Aliases for TERF2 Gene

  • Telomeric Repeat Binding Factor 2 2 3 5
  • TTAGGG Repeat-Binding Factor 2 3 4
  • Telomeric DNA-Binding Protein 3 4
  • TRBF2 3 4
  • TRF2 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. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and DNA Damage/Telomere Stress Induced Senescence. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERF2 Gene

Genomics for TERF2 Gene

Regulatory Elements for TERF2 Gene

Enhancers for TERF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G069402 2 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +0.4 394 11.5 PKNOX1 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF302 PDPR LOC400541 NONOP1 TMED6 LOC100506083 UTP4 TERF2 NFAT5 MIR1538 NIP7
GH16G069393 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12 +11.2 11228 7.4 HNRNPUL1 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 UTP4 CYB5B NIP7 TERF2 NFAT5 MIR1538 NQO1 LOC400541 GC16M069451
GH16G069528 1.8 FANTOM5 Ensembl ENCODE 11.9 -122.6 -122636 4.6 CREB3L1 MLX ZFP64 DMAP1 YY1 ZNF143 SP3 TBX21 MEF2D SSRP1 SF3B3 CHTF8 NONOP1 NIP7 PDXDC2P EXOSC6 NPIPB14P NFAT5 MIR1538 PDPR
GH16G068655 1.4 Ensembl ENCODE dbSUPER 11.8 +749.8 749760 5.8 FOXA2 NFIB INSM2 RAD21 ZBTB40 ZNF121 ELK1 ZSCAN5C SMARCC2 FOS ACD CDH3 ENSG00000252040 ENSG00000252640 TERF2 RNU4-36P SLC7A6OS ENSG00000259797 ZFP90 GFOD2
GH16G068635 1.1 Ensembl ENCODE dbSUPER 11.8 +772.0 771972 2.0 STAT1 SMARCC1 JUND SCRT2 SMARCC2 PRDM1 FOXA1 ZFP90 ACD TERF2 SLC7A6OS ENSG00000259797 TMED6 CDH3 ENSG00000260577
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TERF2 on UCSC Golden Path with GeneCards custom track

Promoters for TERF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000087417 300 1801 HDGF MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1

Genomic Location for TERF2 Gene

Chromosome:
16
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

Genes around TERF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

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 isoforms=335
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TERF2 (TRF2)
  • Abcam antibodies for TERF2
  • Cloud-Clone Corp. Antibodies for TERF2

No data available for DME Specific Peptides for TERF2 Gene

Domains & Families for TERF2 Gene

Gene Families 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 :
  • The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2.
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.
genes like me logo Genes that share domains with TERF2: view

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 IEA --
GO:0003691 double-stranded telomeric DNA binding ISS 9326950
GO:0003720 contributes_to telomerase activity IDA 23685356
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
genes like me logo Genes that share phenotypes with TERF2: view

Animal Models for TERF2 Gene

MGI Knock Outs for TERF2:

Animal Model Products

miRNA for TERF2 Gene

miRTarBase miRNAs that target TERF2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TERF2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TERF2 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for TERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA,IDA 12768206
GO:0000783 nuclear telomere cap complex IDA 15181449
GO:0000784 nuclear chromosome, telomeric region IDA,IEA 15109494
GO:0005634 nucleus IEA,IDA 17055345
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with TERF2: view

Pathways & Interactions for TERF2 Gene

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

Pathways by source for TERF2 Gene

Gene Ontology (GO) - Biological Process for TERF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IMP 20655466
GO:0006278 RNA-dependent DNA biosynthetic process IEA --
GO:0007004 telomere maintenance via telomerase IDA --
GO:0007049 cell cycle IEA --
GO:0010628 positive regulation of gene expression IMP 11927518
genes like me logo Genes that share ontologies with TERF2: view

No data available for SIGNOR curated interactions for TERF2 Gene

Drugs & Compounds for TERF2 Gene

(1) Drugs for TERF2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for TERF2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TERF2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for TERF2 Gene

Protein differential expression in normal tissues from HIPED for TERF2 Gene

This gene is overexpressed in Plasma (23.2) and Blymphocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TERF2 Gene



Protein tissue co-expression partners for TERF2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TERF2 Gene:

TERF2

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.

Evidence on tissue expression from TISSUES for TERF2 Gene

  • Liver(4.4)
  • Adrenal gland(4.2)
  • Muscle(2.7)
  • Blood(2.6)
  • Heart(2.6)
  • Nervous system(2.4)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with TERF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 98.8 (n)
dog
(Canis familiaris)
Mammalia TERF2 34 35
  • 92.87 (n)
cow
(Bos Taurus)
Mammalia TERF2 34 35
  • 91.13 (n)
mouse
(Mus musculus)
Mammalia Terf2 34 16 35
  • 87.66 (n)
rat
(Rattus norvegicus)
Mammalia Terf2 34
  • 87.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TERF2 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TERF2 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves TERF2 34 35
  • 64.4 (n)
lizard
(Anolis carolinensis)
Reptilia TERF2 35
  • 25 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia terf2 34
  • 53.24 (n)
zebrafish
(Danio rerio)
Actinopterygii terfa 34 35
  • 47.11 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5936 35
  • 24 (a)
OneToMany
Species where no ortholog for TERF2 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs1000103752 -- 69,380,000(+) TCCTC(C/G)CCTCC intron-variant
rs1000148338 -- 69,379,165(+) GCACA(C/T)TTATT intron-variant
rs1000194006 -- 69,361,592(+) TGTCC(C/T)GTTGT intron-variant
rs1000268440 -- 69,373,737(+) TTGAG(A/G)TAGGA intron-variant
rs1000293508 -- 69,361,722(+) AGTAC(A/C)TCAAG intron-variant

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

Variant ID Type Subtype PubMed ID
esv3329158 CNV insertion 20981092
esv3388367 CNV insertion 20981092
nsv509629 CNV insertion 20534489
nsv974826 CNV duplication 23825009

Variation tolerance for TERF2 Gene

Gene Damage Index Score: 2.11; 38.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TERF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERF2

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

Disorders for TERF2 Gene

Relevant External Links for TERF2

Genetic Association Database (GAD)
TERF2
Human Genome Epidemiology (HuGE) Navigator
TERF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERF2

No disorders were found for TERF2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 22 64
  2. Arginine methylation regulates telomere length and stability. (PMID: 19596784) Mitchell T.R. … Zhu X.D. (Mol. Cell. Biol. 2009) 3 4 22 64
  3. The Apollo 5' exonuclease functions together with TRF2 to protect telomeres from DNA repair. (PMID: 16730175) Lenain C. … Gilson E. (Curr. Biol. 2006) 3 4 22 64
  4. How the human telomeric proteins TRF1 and TRF2 recognize telomeric DNA: a view from high-resolution crystal structures. (PMID: 15608617) Court R. … Rhodes D. (EMBO Rep. 2005) 3 4 22 64
  5. Shelterin: the protein complex that shapes and safeguards human telomeres. (PMID: 16166375) de Lange T. (Genes Dev. 2005) 3 4 22 64

Products for TERF2 Gene

  • Addgene plasmids for TERF2

Sources for TERF2 Gene

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