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TERF2IP Gene

protein-coding   GIFtS: 60

GC16P074239
telomeric repeat binding factor 2, interacting protein
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
DRIP5 2
RAP1 1, 2, 3, 5
hRap1 3
Descriptions
TRF2-interacting telomeric RAP1 protein 2
TRF2-interacting telomeric protein Rap1 3
dopamine receptor interacting protein 5 2
telomeric repeat binding factor 2, interacting protein 2
External Ids
HGNC: 192461
Entrez Gene: 543862
UniProtKB: Q9NYB03
Ensembl: ENSG000001668487
Search outside databases for aliases for TERF2IP gene

Previous GC identifers: GC16P066611 GC16P076642 GC16P075420 GC16P075461

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TE2IP_HUMAN, Q9NYB0
Function: May play a role in telomere length regulation. Component of the shelterin complex
(telosome) that is involved in the regulation of telomere length and protection. Shelterin
associates with arrays of double-stranded TTAGGG 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

Gene Wiki entry for TERF2IP

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the TERF2IP gene  

Entrez Gene cytogenetic band: 16q23.1   Ensembl cytogenetic band:  16q23.1   HGNC cytogenetic band: 16q22.3

TERF2IP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P074239:     (about GC identifiers)

Start:
74,239,185 bp from pter
End:
74,248,829 bp from pter
Size:
9,645 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000016.8  NT_010498.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: TE2IP_HUMAN, Q9NYB0 (See protein sequence)
Recommended Name: Telomeric repeat-binding factor 2-interacting protein 1  
Size: 399 amino acids; 44260 Da
Subunit: Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2,
TERF2IP ACD and POT1. Binds to TRF2 (but not TRF1) with its C-terminus
Subcellular location: Nucleus. Telomere. Note=Colocalizes with telomeric DNA in interphase and
metaphase cells
Miscellaneous: Recruited to telomeres by TRF2; seemingly it does not directly bind to DNA itself
Sequence caution: Sequence=AAL55783.1; Type=Frameshift; Positions=151; Sequence=BAA91317.1;
Type=Erroneous termination; Positions=299; Note=Translated as Glu;
PDB structures from and Proteopedia :
1FEX (3D)    
Secondary accessions: Q8WYZ3 Q9NWR2

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_061848.2  

    ENSEMBL proteins: 
    ENSP00000300086 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant TERF2IP Protein
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (RAP1)
    Human Recombinant Proteins from Abnova (TERF2IP)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228 nuclear chromosome TAS10850490
    GO:0000783 nuclear telomere cap complex IDA15181449 16880378
    GO:0005634 nucleus IDA17055345
    GO:0005654 nucleoplasm EXP16166375
    GO:0005737 cytoplasm IDA18029348
    About this table

    Antibodies for TERF2IP: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of TERF2IP
    Sigma-Aldrich Antibody Arrays and Antibodies for TERF2IP
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (RAP1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TERF2IP)
    Novus Biologicals Antibodies for TERF2IP

    Assays for TERF2IP: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of TERF2IP
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    2 InterPro domains/families:
     IPR015010 Myb_DNA-bd_2
     IPR012287 Homeodomain-rel


       GeneDecks  TERF2IP for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9NYB0

    ProtoNet protein and cluster: Q9NYB0

    1 Blocks protein family: IPB001357 BRCT domain

    UniProtKB/Swiss-Prot: TE2IP_HUMAN, Q9NYB0
    Similarity: Contains 1 BRCT domain
    Similarity: Contains 1 Myb-like domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TERF2IP)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TERF2IP)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018975

                  Applied Biosystems Silencer® siRNAs for TERF2IP

                  Sigma-Aldrich siRNA for TERF2IP  
                         Sigma-Aldrich shRNA for TERF2IP  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TERF2IP
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_018975
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_018975
                                     untagged cDNA clone in CMV expression vector: NM_018975 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_018975

    UniProtKB/Swiss-Prot: TE2IP_HUMAN, Q9NYB0
    Function: May play a role in telomere length regulation. Component of the shelterin complex
    (telosome) that is involved in the regulation of telomere length and protection. Shelterin
    associates with arrays of double-stranded TTAGGG 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

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677 DNA binding IEA--
    GO:0005515 protein binding IPI14690602
    GO:0042162NOT telomeric DNA binding TAS10850490
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


     Gene Network CentralTM Interacting Genes and Proteins Network for  TERF2IP 


    5/19 Interacting proteins for TERF2IP (Q9NYB01, 2 ENSP000003000863) via UniProtKB, MINT, and/or STRING (see all 19 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TINF2Q9BSI4-31, ENSP000002674153EBI-750109, EBI-717418 STRING (score=.999)
    AP2B1P630102MINT-67704
    ORC2LQ134162MINT-2831429
    TERF2ENSP000002549423STRING (score=.999)
    POT1ENSP000003502493STRING (score=.997)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007004 telomere maintenance via telomerase TAS10850490
    GO:0031848 protection from non-homologous end joining at telomere IMP17499040
    GO:0032205 negative regulation of telomere maintenance IDA17055345
    GO:0045449 regulation of transcription IEA--
    GO:0070198 protein localization to telomere IMP17499040
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TERF2IP
    1 Novoseek chemical compound relationship for TERF2IP gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 97.88 17 12530079 (2), 15383534 (2), 16166375 (2), 15316005 (1) (see all 13)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TERF2IP)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TERF2IP)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_018975

                  Sigma-Aldrich siRNA for TERF2IP  
                         Sigma-Aldrich shRNA for TERF2IP  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_018975  

    REFSEQ mRNAs for TERF2IP gene: 

    NM_018975.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_018975  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_018975
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_018975
                                     untagged cDNA clone in CMV expression vector: NM_018975 

    Additional cDNA sequence: 

    AF250393.1 AF262988.1 AF289599.1 AK298535.1 AK298880.1 AK307901.1 BC004465.1 BC005841.2 
    BC016739.1 BC022428.1 BC078171.1 CR600658.1 CR601111.1 CR605991.1 CR612877.1 CR613478.1 
    CR626430.1 

    24/26 DOTS entries (see all 26 ):

    DT.119914  DT.100764395  DT.455827  DT.100654768  DT.100887098  DT.100699573  DT.100887099  DT.92449074 
    DT.99975006  DT.120666393  DT.120666414  DT.120666466  DT.95264203  DT.100662279  DT.100676787  DT.100836385 
    DT.100887097  DT.100887112  DT.120666356  DT.91683860  DT.95286125  DT.97859746  DT.100887108  DT.120666395 

    24/467 AceView cDNA sequences (see all 467 ):

    AA617859 AA931557 BU734959 BC078171 AA434343 BQ424429 AV709151 BE695788 
    BG529655 AW292103 BI334411 BQ017033 BU682518 T16111 BQ222570 W19779 
    BC004465 AA447396 AI445177 BU687403 AW248587 BF149399 CR613478 AA382948 

    highest scoring ESTs for TERF2IP:

    AA010763 AA011124 AA056043 AA113346 AA142859 AA164794 AA164795 AA164961 AA307828 AA310059 

    Unigene Cluster for TERF2IP:

    Telomeric repeat binding factor 2, interacting protein
    Hs.301419  [show with all ESTs]
    Unigene Representative Sequence: AF289599


    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TERF2IP

    ExUns: 1a · 1b · 1c ^ 2 ^ 3
    SP1:              -               
    SP2:                              

    About this scheme

    ECgene alternative splicing isoforms for TERF2IP

    1 Ensembl transcript including schematic representation:
    ENST00000300086  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TERF2IP expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TERF2IP

    1 / 2 / 3

    4 probe-sets matching TERF2IP gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    78205_at2, 3 U95-E 1 1.00 1.00 0.96 1.01 AI929142 0.80 1.00 0.91 1

    38982_at2, 3 U95-A 1 1.00 1.00 0.93 0.99 W28865 0.80 1.00 0.91 1

    201174_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_018975 0.60 1.00 0.82 1

    201174_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GTAGGTGAGG

    SOURCE GeneReport for Unigene cluster: Hs.301419

    Expression variation in blood from EXPOLDB for TERF2IP

    UniProtKB/Swiss-Prot: TE2IP_HUMAN, Q9NYB0
    Tissue specificity: Ubiquitous. Highly expressed

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for TERF2IP gene from 5/6 species (see all 6 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TERF2IP1   -- telomeric repeat binding factor 2, interacting protein 91.92(n)
    93.69(a)
    479643  XM_536776.2  XP_536776.2 
    cow
    (Bos taurus)
    TERF2IP1   -- telomeric repeat binding factor 2, interacting protein 90.34(n)
    90.93(a)
    509625  NM_001075412.1  NP_001068880.1 
    rat
    (Rattus norvegicus)
    Terf2ip1   -- telomeric repeat binding factor 2, interacting protein 86.17(n)
    86.26(a)
    307861  NM_001013143.1  NP_001013161.1 
    mouse
    (Mus musculus)
    Terf2ip1, 5 85
    telomeric repeat binding factor 2, interacting protein1, 5 86.52(n)1
    86.17(a)1
    573211  NM_020584.11  NP_065609.11 
     AB0415575  AB0415595  (see all 22)
    chicken
    (Gallus gallus)
    TERF2IP1   -- telomeric repeat binding factor 2, interacting protein 58.91(n)
    48.74(a)
    395122  NM_204468.1  NP_989799.1 
    About this table        Species with no ortholog for TERF2IP

    ENSEMBL Gene Tree for TERF2IP
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/39 NCBI SNPs in TERF2IP are shown (see all 39 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 44)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs48884441,2
    C,F,H74247780(+) TGGAGA/GAGTTT 1 K/E mis18Minor allele frequency- G:0.02EU EA WA 840
    rs116397711,2
    C,F,H74249153(+) ACTATC/TAGGAA 1 -- ng3111Minor allele frequency- T:0.09EU EA WA NA 982
    rs115566411,2
    C,F,H74248478(-) ATAATC/ACGTGT 1 -- ut31 ese37Minor allele frequency- A:0.05NA EU EA WA 558
    rs103081,2
    C74248610(-) ACTGAG/TAAGGG 1 -- ut31 ese31Minor allele frequency- T:0.00MN 184
    --
    rs71950891,2
    C,F,H74244562(+) aatgtA/Gtcaat 1 -- int14Minor allele frequency- G:0.16EU EA WA 358
    rs71930661,2
    C,F,H74247022(+) TCTCAA/CACATG 1 -- int116Minor allele frequency- C:0.40EU EA WA NA 1468
    rs71867901,2
    F,H74243647(+) TACTAG/TCACAC 1 -- int14Minor allele frequency- T:0.15EU EA WA 416
    --
    rs48884431,2
    A,C74243012(+) gaaccA/Ggggag 1 -- int10--------
    rs177648211,2
    F,H74243247(+) CAAAAT/CAGAAC 1 -- int17Minor allele frequency- C:0.37NA EU EA WA 538
    --
    rs169418651,2
    F74245470(+) GAAGCA/GAGCAT 1 -- int13Minor allele frequency- G:0.01NA 142
    About this table

    HapMap Linkage Disequilibrium images for TERF2IP (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 605061

    2 Novoseek disease relationships for TERF2IP gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 8.25 2 12530079 (1), 15181449 (1)
    tumors 0.00 5 17020976 (3), 9380414 (2)
    About this table

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    36/74 PubMed articles for TERF2IP gene (see all 74 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Search String
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 54386 HGNC: 19246 AceView: TERF2IP Ensembl:ENSG00000166848 euGenes: HUgn54386
    ECgene: TERF2IP H-InvDB: TERF2IP
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for TERF2IP Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for TERF2IP:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for TERF2IP-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for TERF2IP Antibodies for TERF2IP
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for TERF2IP Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Antibodies for TERF2IP

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