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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TERF2 Gene

protein-coding   GIFtS: 60
GCID: GC16M069389

telomeric repeat binding factor 2


(Previous symbol: TRBF2)
 Explore 40 diseases affiliated with
TERF2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TERF2    

Aliases
for TERF2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Telomeric Repeat Binding Factor 21 2     TTAGGG Repeat-Binding Factor 22 3
TRF21 2 3 5     Telomeric Repeat Binding Protein 22
TRBF21 2 3     Telomeric Repeat-Binding Factor 22
Telomeric DNA-Binding Protein2 3     

External Ids:    HGNC: 117291   Entrez Gene: 70142   Ensembl: ENSG000001326047   OMIM: 6020275   UniProtKB: Q155543   

Export aliases for TERF2 gene to outside databases

Previous GC identifers: GC16M060074 GC16M069767 GC16M069124 GC16M069165 GC16M067947 GC16M055267


Summaries
for TERF2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TERF2:
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)

UniProtKB/Swiss-Prot: TERF2_HUMAN, Q15554
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 Wiki entry for TERF2


Genomic Views
for TERF2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TERF2 gene promoter:
         AML1a   GATA-1   Meis-1b   GATA-2   FOXC1   HOXA5   SEF-1 (1)   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TERF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TERF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TERF2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M069389:  view genomic region     (about GC identifiers)

Start:
 69,389,464 bp from pter      End:
 69,442,474 bp from pter
Size:
 53,011 bases      Orientation:
 minus strand

Proteins
for TERF2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TERF2_HUMAN, Q15554 (See protein sequence)
Recommended Name: Telomeric repeat-binding factor 2  
Size: 500 amino acids; 55551 Da
Subunit: 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
Subcellular location: Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA in interphase cells and is
located at chromosome ends during metaphase
6/9 PDB 3D structures from and Proteopedia for TERF2 (see all 9):
1H6P (3D)        1VF9 (3D)        1VFC (3D)        1W0U (3D)        1XG1 (3D)        3BU8 (3D)    
Alternative splicing: 2 isoforms:  Q15554-1   Q15554-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TERF2: NX_Q15554

Post-translational modifications:

  • Phosphorylated upon DNA damage, most probably by ATM. Phosphorylated TERF2 is not bound to telomeric DNA, and rapidly
    • localizes to damage sites1
  • Methylated by PRMT1 at multiple arginines within the N-terminal Arg-rich region. Methylation may control association
    • with telomeres1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15554

    • TERF2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005643.2  
    ENSEMBL proteins: 
     ENSP00000254942   ENSP00000463079   ENSP00000456022   ENSP00000462726   ENSP00000457094  
     ENSP00000462523   ENSP00000454955   ENSP00000456062  
    Reactome Protein details: Q15554
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: TERF2
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for TERF2 
    GenScript Custom Purified and Recombinant Proteins Services for TERF2
    Novus Biologicals TERF2 Protein
    Novus Biologicals TERF2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TERF2

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA12768206
    GO:0000783nuclear telomere cap complex IDA15181449
    GO:0000784nuclear chromosome, telomeric region ----
    GO:0001673male germ cell nucleus IEA--
    GO:0005634nucleus IDA--


    TERF2 for ontologies           About GeneDecksing



    TERF2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TERF2
    R&D Systems Antibodies for TERF2 (TRF-2)
    Cell Signaling Technology (CST) Antibodies for TERF2  (TRF2)
    OriGene Antibodies (see all 3): TERF2
    OriGene Custom Antibody Services for TERF2 
    GenScript Custom Superior Antibodies Services for TERF2
    Novus Biologicals TERF2 Antibodies
    Abcam antibodies for TERF2 
    Uscn Antibodies for TERF2
    ThermoFisher Antibodies for TERF2

    Assay Products for TERF2: 
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    Browse OriGene Fluorogenic Cell Assay Kits
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    GenScript Custom Assay Services for TERF2
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for TERF2

    Protein Domains /
    Families
    for TERF2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TERF2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR017357 Telomere_repeat-bd-1/2
     IPR013867 Telomere_rpt-bd_fac_dimer_dom
     IPR001005 SANT/Myb
     IPR009057 Homeodomain-like
     IPR017930 Myb_dom

    Graphical View of Domain Structure for InterPro Entry Q15554

    ProtoNet protein and cluster: Q15554

    1 Blocks protein family: IPB013867 Telomere repeat binding factor

    UniProtKB/Swiss-Prot: TERF2_HUMAN, Q15554
    Domain: The TRFH dimerization region mediates the interaction with DCLRE1B/Apollo but not TINF2
    Domain: The HTH domain is an independent structural unit and mediates binding to telomeric DNA
    Similarity: Contains 1 HTH myb-type DNA-binding domain


    Function
    for TERF2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TERF2_HUMAN, Q15554
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: TERF2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TERF2
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate TERF2 (see all 17):
    hsa-miR-548v hsa-miR-221 hsa-miR-29b-1* hsa-miR-570 hsa-miR-214* hsa-miR-3154 hsa-miR-497* hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmid: TERF2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TERF2 (see all 7)
    OriGene shRNA RFP: TERF2
    OriGene siRNA: TERF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TERF2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TERF2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TERF2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TERF2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: TERF2 (NM_005652)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TERF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TERF2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TERF2
    Search LifeMap BioReagents cell lines for TERF2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERF2

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003691double-stranded telomeric DNA binding ISS9326950
    GO:0005515protein binding IPI10984620
    GO:0008022protein C-terminus binding IPI12181313
    GO:0042162telomeric DNA binding IDA--


    TERF2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Terf2tm1.1Tdl for TERF2
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Terf2):
     cellular  liver/biliary system  mortality/aging 

    TERF2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TERF2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Meiotic Synapsis
    		Meiotic Synapsis1.00
    		Chromosome Maintenance0.56
    		Telomere clustering at the nuclear membrane0.82
    		Packaging Of Telomere Ends0.54
    		Meiosis0.70
    		Telomere Maintenance0.38
    2DNA Damage
    		DNA Damage1.00
    3Cell Cycle / Checkpoint Control
    		Cell Cycle / Checkpoint Control1.00
    4Cell Cycle
    		Cell Cycle1.00
    5Telomere Extension by Telomerase
    		Telomere Extension by Telomerase1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for TERF2
        Telomerase Components in Cell Signaling
    Telomere Extension by Telomerase

    2 Cell Signaling Technology (CST) Pathways for TERF2
        Cell Cycle / Checkpoint Control
    DNA Damage

    1 BioSystems Pathway for TERF2 
        Regulation of Telomerase

    5/7        Reactome Pathways for TERF2 (see all 7)
        Telomere Maintenance
    Meiotic Synapsis
    Packaging Of Telomere Ends
    Cell Cycle
    Meiosis



    TERF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TERF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/269 Interacting proteins for TERF2 (Q155541, 2, 3 ENSP000002549424) via UniProtKB, MINT, STRING, and/or I2D (see all 269)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOP3AQ134722, 3, ENSP000003216364MINT-6743829 MINT-6744175 MINT-6744122 MINT-6743896 MINT-6744078 I2D: score=1 STRING: ENSP00000321636
    ORC2Q134162, 3, ENSP000002342964MINT-2831336 MINT-2831672 MINT-2831554 I2D: score=2 STRING: ENSP00000234296
    BLMP541321, 3, ENSP000003472324EBI-706637,EBI-621372 I2D: score=5 STRING: ENSP00000347232
    SLX4Q8IY921, 3, ENSP000002940084EBI-706637,EBI-2560942 I2D: score=2 STRING: ENSP00000294008
    TERF2IPQ9NYB01, 2, 3, ENSP000003000864EBI-706637,EBI-750109 MINT-8286662 MINT-8286652 I2D: score=6 STRING: ENSP00000300086
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0001309age-dependent telomere shortening NAS17395247
    GO:0001701in utero embryonic development IEA--
    GO:0007004telomere maintenance via telomerase IC15657433
    GO:0007049cell cycle IEA--


    TERF2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TERF2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TERF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TERF2
    7 Novoseek chemical compound relationships for TERF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 97.7 65 15316005 (5), 15292264 (5), 12530079 (4), 15383534 (4) (see all 26)
    telomestatin 68.9 6 16302000 (3), 17409236 (2)
    arsenite 31.7 5 15904916 (3), 17643074 (1), 16129045 (1)
    adpribose 17.2 1 11494028 (1)
    oligonucleotide 11 4 19139067 (2)
    oxygen 2.44 1 15904916 (1)
    retinoic acid 0 1 14741354 (1)

    Search CenterWatch for drugs/clinical trials and news about TERF2 

    Transcripts
    for TERF2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TERF2 gene: 
    NM_005652.4  

    Unigene Cluster for TERF2:

    Telomeric repeat binding factor 2
    Hs.63335  [show with all ESTs]
    Unigene Representative Sequence: NM_005652
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254942(uc002exd.3) ENST00000566051 ENST00000567130 ENST00000569584
    ENST00000566750 ENST00000569542 ENST00000566257 ENST00000564982 ENST00000569611
    ENST00000567296(uc002exe.3) ENST00000569280 ENST00000567841

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TERF2
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate TERF2 (see all 17):
    hsa-miR-548v hsa-miR-221 hsa-miR-29b-1* hsa-miR-570 hsa-miR-214* hsa-miR-3154 hsa-miR-497* hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmid: TERF2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TERF2 (see all 7)
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    OriGene siRNA: TERF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TERF2
    Clone
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    GenScript: all cDNA clones in your preferred vector: TERF2 (NM_005652)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TERF2 
    Primer
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TERF2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TERF2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERF2

    Additional cDNA sequence: 

    AF002999.1 BC024890.1 U95970.1 X93512.1 

    12 DOTS entries:

    DT.305481  DT.65287728  DT.95159827  DT.414733  DT.120681268  DT.92007747  DT.95159831  DT.97854670 
    DT.120681281  DT.92429428  DT.100811930  DT.95284783 

    24/170 AceView cDNA sequences (see all 170):

    AW204639 CB305945 BC024890 BM791528 AA456985 BE409049 BQ646147 AA384904 
    CA424128 NM_005652 BM449479 F18285 AI278205 BM725435 BM677860 BQ064661 
    AI968267 CA445383 BE786175 AA858128 AA897198 BE384174 BM460697 AI350271 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TERF2    About this scheme

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


    ECgene alternative splicing isoforms for TERF2

    Expression
    for TERF2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TERF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTTGAACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    TERF2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Line H1 (WA01) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TERF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TERF2

    SOURCE GeneReport for Unigene cluster: Hs.63335

    UniProtKB/Swiss-Prot: TERF2_HUMAN, Q15554
    Tissue specificity: Ubiquitous. Highly expressed in spleen, thymus, prostate, uterus, testis, small intestine, colon
    and peripheral blood leukocytes

        SABiosciences Expression via Pathway-Focused PCR Arrays including TERF2: 
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    Orthologs
    for TERF2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for TERF2 gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TERF26
    		 Uncharacterized protein
    		 32(a)
    		 1 ↔ 1
    		 11(20895890-20903666)
    lizard
    (Anolis carolinensis)    		 Reptilia TERF26
    		 --
    		 25(a)
    		 1 ↔ 1
    		 GL343643.1(55815-67336)
    zebrafish
    (Danio rerio)    		 Actinopterygii terfa6
    		 telomeric repeat binding factor a
    		 22(a)
    		 1 ↔ 1
    		 4(62065768-62081128)


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

    Paralogs
    for TERF2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TERF2 gene
    TERF12  
    1 SIMAP similar gene for TERF2 using alignment to 7 protein entries:     TERF2_HUMAN (see all proteins):
    TERF1

    TERF2 for paralogs           About GeneDecksing



    Genomic Variants
    for TERF2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/483 NCBI SNPs in TERF2 are shown (see all 483)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1925684631,2
    		--69389046(+) CACCAC/TGCCCA 1 -- ds50010--------
    rs1448986371,2
    		--69389053(+) CCCAGA/CTAATT 1 -- ds50010--------
    rs1490211011,2
    		--69389096(+) TTGGCC/TGCGCT 1 -- ds50010--------
    rs1438306581,2
    		--69389230(+) CCTTGC/GCTTTC 1 -- ds50010--------
    rs1509930991,2
    		C,--69389404(+) GCAAA-/GTTT  
                GTTTA     		1 -- ds50010--------
    rs759788371,2
    		F,--69389618(+) AAGCAC/AAACAC 1 -- ut311Minor allele frequency- A:0.02WA 118
    rs115392871,2
    		C--69389662(-) CGTGTC/TTTGCA 1 -- ut31 ese32Minor allele frequency- T:0.00NA 4
    rs1848524921,2
    		C,--69389738(+) TATTCA/CATCGG 1 -- ut310--------
    rs1399668481,2
    		C,--69389741(+) CAATC-/AGGATT 1 -- ut310--------
    rs775465241,2
    		C,F,--69389784(+) GGGAAT/CTGGGA 1 -- ut311Minor allele frequency- C:0.07EA 120

    HapMap Linkage Disequilibrium report for TERF2 (69389464 - 69442474 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TERF2: --

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    Disorders / Diseases
    for TERF2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TERF2 for disorders           About GeneDecksing

    OMIM gene information: 602027    OMIM disorders: --

    20/40 diseases for TERF2 (see all 40):    About MalaCards
    north american indian childhood cirrhosis    monoclonal gammopathy of undetermined significance    nijmegen breakage syndrome    b-cell non-hodgkin lymphoma
    non-hodgkin lymphoma    ataxia telangiectasia    bloom syndrome    hodgkin's lymphoma
    burkitt's lymphoma    werner syndrome    aplastic anemia    adult t-cell leukemia
    chronic lymphocytic leukemia    lymphocytic leukemia    ulcerative colitis    acute leukemia
    squamous cell carcinoma    lung cancer susceptibility    cerebrovascular disease    leukemia

    10/21 Novoseek disease relationships for TERF2 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    werner syndrome 64.6 2 14712220 (1), 15200954 (1)
    promyelocytic leukemia 53.8 1 11082050 (1)
    nijmegen breakage syndrome 44.1 1 10888888 (1)
    bloom syndrome 37.9 1 12181313 (1)
    ataxia telangiectasia 36.5 1 19398584 (1)
    cancer 35.6 34 16302000 (3), 15905204 (2), 17643074 (2), 16142233 (2) (see all 19)
    acute leukemia 17.1 6 11179492 (3), 11123427 (1), 11481865 (1)
    gastric cancer 14.5 18 19399616 (6), 12530079 (2), 16760674 (2), 12148588 (1) (see all 5)
    tumors 12.4 35 20046894 (3), 12943625 (2), 17822315 (2), 17020976 (2) (see all 14)
    burkitt lymphoma 8.84 1 15476325 (1)

    Human Genome Epidemiology (HuGE) Navigator: TERF2 (16 documents)

    Export disorders for TERF2 gene to outside databases

    Publications
    for TERF2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TERF2 gene, integrated from 9 sources (see all 264):
    (articles sorted by number of sources associating them with TERF2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human telomeres contain two distinct Myb-related proteins, TRF1 and TRF2. (PubMed id 9326950)1, 2, 3, 9 Broccoli D.... de Lange T. (1997)
    2. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PubMed id 15316005)1, 2, 9 Ye J.Z.-S.... de Lange T. (2004)
    3. Arginine methylation regulates telomere length and st ability. (PubMed id 19596784)1, 2, 9 Mitchell T.R....Zhu X.D. (2009)
    4. Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. (PubMed id 10888888)1, 2, 9 Zhu X.-D.... de Lange T. (2000)
    5. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (2004)
    6. DNA damage-induced phosphorylation of the human telomere-associated protein TRF2. (PubMed id 16223874)1, 2, 9 Tanaka H....Gilley D. (2005)
    7. TRF2 protects human telomeres from end-to-end fusions. (PubMed id 9476899)1, 2, 9 van Steensel B.... de Lange T. (1998)
    8. Chromosomal sublocalization of the transcribed human telomere repeat binding factor 2 gene and comparative mapping in the mouse. (PubMed id 10226653)1, 3, 9 Sakaguchi A.Y....Giambernardi T.A. (1998)
    9. How the human telomeric proteins TRF1 and TRF2 recognize telomeric DNA: a view from high-resolution crystal structures. (PubMed id 15608617)1, 2, 9 Court R....Rhodes D. (2005)
    10. Structure of the TRFH dimerization domain of the human telomeric proteins TRF1 and TRF2. (PubMed id 11545737)1, 2, 9 Fairall L.... Rhodes D. (2001)

    External Searches for TERF2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TERF2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7014 HGNC: 11729 AceView: TERF2 Ensembl:ENSG00000132604 euGenes: HUgn7014
    ECgene: TERF2 H-InvDB: TERF2

    Other Databases showing TERF2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TERF2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TERF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TERF2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for TERF2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TERF2 gene:
    Search GeneIP for patents involving TERF2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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