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

TERF2IP Gene

protein-coding   GIFtS: 54
GCID: GC16P075681

telomeric repeat binding factor 2, interacting protein

 Explore 23 diseases affiliated with
TERF2IP via our new
 Human Malady Compendium 
Biological research products
for TERF2IP
    

(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 2, Interacting Protein1 2     RAP1 Homolog2 3
RAP11 2 3 5     TERF2-Interacting Telomeric Protein 12 3
Dopamine Receptor-Interacting Protein 52 3     TRF2-Interacting Telomeric Protein 12 3
Repressor/Activator Protein 1 Homolog2 3     Dopamine Receptor Interacting Protein 52
DRIP52 3     Telomeric Repeat-Binding Factor 2-Interacting Protein 12
HRap11     TRF2-Interacting Telomeric RAP1 Protein2

External Ids:    HGNC: 192461   Entrez Gene: 543862   Ensembl: ENSG000001668487   OMIM: 6050615   UniProtKB: Q9NYB03   

Export aliases for TERF2IP gene to outside databases

Previous GC identifers: GC16P066611 GC16P076642 GC16P075420 GC16P075461 GC16P074239 GC16P061435


(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 TERF2IP:
The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on
chromosomes 5 and 22. (provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: TE2IP_HUMAN, Q9NYB0
Function: Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of
telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of
the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres
against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere
recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does
not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2.
Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric
5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic,
associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting
IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes

Gene Wiki entry for TERF2IP


(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 TERF2IP gene promoter:
         HOXA9   HOXA9B   Pax-5   Lmo2   Tal-1beta   Egr-4   E47   Meis-1b   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTERF2IP promoter sequence
   Search SABiosciences Chromatin IP Primers for TERF2IP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TERF2IP


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

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

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P075681:  view genomic region     (about GC identifiers)

Start:
75,681,635 bp from pter      End:
75,795,051 bp from pter
Size:
113,417 bases      Orientation:
plus strand

(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: TE2IP_HUMAN, Q9NYB0 (See protein sequence)
Recommended Name: Telomeric repeat-binding factor 2-interacting protein 1  
Size: 399 amino acids; 44260 Da
Subunit: Associates with the I-kappa-B-kinase (IKK) core complex, composed of CHUK, IKBKB and IKBKG (By similarity).
Homodimer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1.
Interacts with TERF2; the interaction is direct. Does not interact with TERF1. Interacts with SLX4/BTBD12
Subcellular location: Nucleus. Cytoplasm (By similarity). Chromosome. Chromosome, telomere. Note=Associates with
chromosomes, both at telomeres and in extratelomeric sites. Also exists as a cytoplasmic form, where it associates
with the IKK complex (By similarity)
Miscellaneous: Shares a bidirectional promoter with KARS (PubMed:14659874)
Caution: Was reported to participate in the protection of telomeres against non-homologous end-joining (NHEJ)-mediated
repair in the absence of TERF2 (PubMed:19763083). However, this probably does not corresponds to its primary function
and experiments in mouse showed that it is dispensible for such process and is required for repressiion of
homology-directed repair (HDR)
Sequence caution: Sequence=AAL55783.1; Type=Frameshift; Positions=151; Sequence=BAA91317.1; Type=Erroneous termination;
Positions=299; Note=Translated as Glu; Sequence=BAG60996.1; Type=Erroneous initiation; Note=Translation N-terminally
extended;
2 PDB 3D structures from and Proteopedia for TERF2IP:
1FEX (3D)        3K6G (3D)    
Secondary accessions: B4DQN4 Q4W4Y2 Q8WYZ3 Q9NWR2

Explore the universe of human proteins at neXtProt for TERF2IP: NX_Q9NYB0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NYB0

  • TERF2IP Protein expression data from MOPED and PaxDb:    About this image 
    TERF2IP Protein Expression
    REFSEQ proteins: NP_061848.2  
    ENSEMBL proteins: 
     ENSP00000300086   ENSP00000454399   ENSP00000456092  
    Reactome Protein details: Q9NYB0
    Human Recombinant Protein Products for TERF2IP: 
    EMD Millipore Purified and/or Recombinant TERF2IP Protein
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    Novus Biologicals TERF2IP Protein
    Novus Biologicals TERF2IP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TERF2IP

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome TAS10850490
    GO:0000781chromosome, telomeric region ISS--
    GO:0000783nuclear telomere cap complex IDA15181449
    GO:0000784nuclear chromosome, telomeric region IDA14565979
    GO:0005634nucleus ISS--

    TERF2IP for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TERF2IP


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

    TERF2IP for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR009057 Homeodomain-like
     IPR015010 Rap1_Myb_dom

    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: Belongs to the RAP1 family
    Similarity: Contains 1 BRCT domain
    Similarity: Contains 1 Myb-like domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TE2IP_HUMAN, Q9NYB0
    Function: Acts both as a regulator of telomere function and as a transcription regulator. Involved in the regulation of
    telomere length and protection as a component of the shelterin complex (telosome). In contrast to other components of
    the shelterin complex, it is dispensible for telomere capping and does not participate in the protection of telomeres
    against non-homologous end-joining (NHEJ)-mediated repair. Instead, it is required to negatively regulate telomere
    recombination and is essential for repressing homology-directed repair (HDR), which can affect telomere length. Does
    not bind DNA directly: recruited to telomeric double-stranded 5'-TTAGGG-3' repeats via its interaction with TERF2.
    Independently of its function in telomeres, also acts as a transcription regulator: recruited to extratelomeric
    5'-TTAGGG-3' sites via its association with TERF2 or other factors, and regulates gene expression. When cytoplasmic,
    associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of the NF-kappa-B signaling by promoting
    IKK-mediated phosphorylation of RELA/p65, leading to activate expression of NF-kappa-B target genes

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI19651898
    GO:0042162NOT telomeric DNA binding TAS10850490
         
    TERF2IP for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Terf2ip):
     cellular  growth/size  immune system  mortality/aging  no phenotypic analysis 
     pigmentation  reproductive system 

    TERF2IP for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Terf2iptm1.2Tdl for TERF2IP
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TERF2IP 

    miRNA
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    hsa-miR-607 hsa-miR-187* hsa-miR-520d-5p hsa-miR-1283 hsa-miR-3065-5p hsa-miR-548e hsa-miR-570 hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidTERF2IP 3' UTR sequence
    Inhib. RNA
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    Clone
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TERF2IP


    (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 - 5/8 super-pathways (see all 8About 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

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TERF2IP
        Telomere Extension by Telomerase

    3 Cell Signaling Technology (CST) Pathways for TERF2IP
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    2 BioSystems Pathways for TERF2IP 
        Hypothetical Network for Drug Addiction
    Regulation of Telomerase

    5/7        Reactome Pathways for TERF2IP (see all 7)
        Telomere Maintenance
    Meiotic Synapsis
    Packaging Of Telomere Ends
    Cell Cycle
    Meiosis



    TERF2IP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TERF2IP

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

    5/167 Interacting proteins for TERF2IP (Q9NYB01, 2, 3 ENSP000003000864) via UniProtKB, MINT, STRING, and/or I2D (see all 167)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF2Q155541, 2, 3, ENSP000002549424EBI-750109,EBI-706637 MINT-8286662 MINT-8286652 I2D: score=6 STRING: ENSP00000254942
    AP2B1P630102, 3, ENSP000003144144MINT-67704 I2D: score=5 STRING: ENSP00000314414
    ORC2Q134162, 3, ENSP000002342964MINT-2831429 I2D: score=1 STRING: ENSP00000234296
    SLX4Q8IY921, 3, ENSP000002940084EBI-750109,EBI-2560942 I2D: score=2 STRING: ENSP00000294008
    HSPA1AP081073I2D: score=3 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ISS--
    GO:0007004telomere maintenance via telomerase TAS10850490
    GO:0010569regulation of double-strand break repair via homologous recombination ISS--

    TERF2IP for ontologies           About GeneDecksing



    (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

    TERF2IP for compounds           About GeneDecksing

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

    Browse Tocris compounds for TERF2IP
    1 Novoseek chemical compound relationship for TERF2IP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 98.2 20 12530079 (2), 15383534 (2), 16166375 (2), 15316005 (1) (see all 16)

    Search CenterWatch for drugs/clinical trials and news about TERF2IP / TE2IP 

    (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, Sirion Biotech, 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 TERF2IP gene: 
    NM_018975.3  

    Unigene Cluster for TERF2IP:

    Telomeric repeat binding factor 2, interacting protein
    Hs.301419  [show with all ESTs]
    Unigene Representative Sequence: NM_018975
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300086(uc002fet.2) ENST00000569234 ENST00000564671

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    hsa-miR-607 hsa-miR-187* hsa-miR-520d-5p hsa-miR-1283 hsa-miR-3065-5p hsa-miR-548e hsa-miR-570 hsa-miR-1305
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    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 

    24/27 DOTS entries (see all 27):

    DT.119914  DT.100764395  DT.455827  DT.100654768  DT.100887098  DT.100699573  DT.100887099  DT.92449074 
    DT.99975006  DT.120666393  DT.120666414  DT.95264203  DT.120666466  DT.120666444  DT.100662279  DT.100676787 
    DT.100836385  DT.100887097  DT.100887108  DT.100887112  DT.120666356  DT.95286125  DT.97859746  DT.100649696 

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

    BE858388 AA426157 AA399316 CR626430 BX108635 CB215825 BE858899 AW044227 
    AW088251 AA361398 AA382948 AA758367 AJ707088 BQ649773 AL535048 AA769291 
    AA663668 AA349406 AW028907 CB157489 AW163647 R17363 CD251204 BE855776 

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for TERF2IP

    (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

    TERF2IP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAGGTGAGG
    TERF2IP Expression
    About this image
    See TERF2IP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TERF2IP

    SOURCE GeneReport for Unigene cluster: Hs.301419

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TERF2IP: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

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    In Situ
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    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TERF2IP

    (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 TERF2IP gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Terf2ip1 , 5 telomeric repeat binding factor 2, interacting protein1, 5 86.17(n)1
    86.51(a)1
      8 (58.29 cM)5
    573211  NM_020584.21  NP_065609.21 
     1120113595 
    chicken
    (Gallus gallus)
    Aves TERF2IP1 telomeric repeat binding factor 2, interacting protein 58.91(n)
    48.74(a)
      395122  NM_204468.1  NP_989799.1 
    lizard
    (Anolis carolinensis)
    Reptilia TERF2IP6
    --
    42(a)
    1 ↔ 1
    GL343483.1(278387-279430)
    zebrafish
    (Danio rerio)
    Actinopterygii terf2ip1 telomeric repeat binding factor 2, interacting protein 47.36(n)
    37.14(a)
      407707  NM_001202416.1  NP_001189345.1 


    ENSEMBL Gene Tree for TERF2IP (if available)
    TreeFam Gene Tree for TERF2IP (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TERF2IP gene

    TERF2IP for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TERF2IP
    PGOHUM00000246392 PGOHUM00000235487


    (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

    10/171 NCBI SNPs in TERF2IP are shown (see all 171    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs740248051,2
    C--75683595(+) CCAGAC/GTTACT 1 -- int14Minor allele frequency- G:0.11WA NA EA 360
    rs736150891,2
    C--75683614(+) CTGGCG/ATAACT 1 -- int15Minor allele frequency- A:0.14WA NA EA 362
    rs1437552941,2
    --75683623(+) CTGAAA/TGCCTA 1 -- int10--------
    rs747022861,2
    C--75683628(+) NNNNTA/GTGGAC 1 -- int15Minor allele frequency- G:0.06NA CSA WA EA 361
    rs1170695061,2
    F--75683653(+) GGCAGT/GTGGAA 1 -- int11Minor allele frequency- G:0.03EA 120
    rs1868459661,2
    --75683660(+) GGAAGG/TTCTCT 1 -- int10--------
    rs740248071,2
    C--75683763(+) ATGTAC/TTTGGT 1 -- int14Minor allele frequency- T:0.11WA NA EA 360
    rs1439911541,2
    --75683985(+) CATTCA/CGCAGA 1 -- int10--------
    rs1921395771,2
    --75684001(+) GAGTGC/TCAGAC 1 -- int10--------
    rs793974771,2
    --75684050(+) CCTGTC/GGTCCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for TERF2IP (75681635 - 75795051 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TERF2IP: --

    SABiosciences Cancer Mutation PCR Assays
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    (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

    TERF2IP for disorders           About GeneDecksing

    OMIM gene information: 605061    OMIM disorders: --

    20/23 diseases for TERF2IP (see all 23):    About MalaCards
    ovarian sex cord tumors    dyskeratosis congenita    babesiosis    tuberous sclerosis
    chronic lymphocytic leukemia    dyskeratosis    lymphocytic leukemia    ulcerative colitis
    cerebrovascular disease    crohn's disease    colon carcinoma    pancreatic carcinoma
    gastric cancer    leukemia    osteosarcoma    lung cancer
    breast cancer    pancreatitis    carcinoma    cholesterol

    2 Novoseek disease relationships for TERF2IP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 8.4 2 12530079 (1), 15181449 (1)
    tumors 2.85 6 17020976 (3), 9380414 (2), 20006006 (1)

    Human Genome Epidemiology (HuGE) Navigator: TERF2IP (5 documents)

    Export disorders for TERF2IP gene to outside databases

    (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 TERF2IP gene, integrated from 9 sources (see all 117):
    (articles sorted by number of sources associating them with TERF2IP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of human RAP1: implications for telomere evolution. (PubMed id 10850490)1, 2, 3, 9 Li B.... de Lange T. (2000)
    2. NMR structure of the hRap1 Myb motif reveals a canonical three-helix bundle lacking the positive surface charge typical of Myb DNA-binding domains. (PubMed id 11545594)1, 2, 9 Hanaoka S....Nishimura Y. (2001)
    3. Shelterin: the protein complex that shapes and safeguards human telomeres. (PubMed id 16166375)1, 2, 9 de Lange T. (2005)
    4. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (2004)
    5. 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)
    6. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1, 2 Svendsen J.M.... Harper J.W. (2009)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, 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 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 TERF2IP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TERF2IP Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TERF2IP gene:
    Search GeneIP for patents involving TERF2IP

    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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