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TERF2IP Gene

protein-coding   GIFtS: 60
GCID: GC16P075681

Telomeric Repeat Binding Factor 2, Interacting Protein

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Telomeric Repeat Binding Factor 2, Interacting Protein1 2     RAP1 Homolog2 3
RAP12 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
hRap12 3     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TERF2IP Gene:
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)

GeneCards Summary for TERF2IP Gene:
TERF2IP (telomeric repeat binding factor 2, interacting protein) is a protein-coding gene. Diseases associated with TERF2IP include babesiosis, and drug addiction. GO annotations related to this gene include telomeric DNA binding.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   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 Chromatin IP Primers for TERF2IP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
75,795,770 bp from pter
Size:
114,136 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
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

Explore proteomics data for TERF2IP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys194, Lys240
  • Modification sites at PhosphoSitePlus

  • See TERF2IP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_061848.2  
    ENSEMBL proteins: 
     ENSP00000300086   ENSP00000454399   ENSP00000456092  
    Reactome Protein details: Q9NYB0

    TERF2IP Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TERF2IP

    TERF2IP Antibody Products:

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    TERF2IP Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for TERF2IP
    Cloud-Clone Corp. CLIAs for TERF2IP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR021661 Rap1_C
     IPR009057 Homeodomain-like
     IPR015010 Rap1_Myb_dom

    Graphical View of Domain Structure for InterPro Entry Q9NYB0

    ProtoNet protein and cluster: Q9NYB0

    1 Blocks protein domain: 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


    TERF2IP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI14690602
    GO:0042162NOT telomeric DNA binding TAS10850490
         
    TERF2IP for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Terf2ip):
     adipose tissue  cellular  growth/size/body  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  no phenotypic analysis  pigmentation 
     reproductive system 

    TERF2IP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Terf2iptm1.2Tdl for TERF2IP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TERF2IP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TERF2IP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TERF2IP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TERF2IP

    miRNA
    Products:
        
    miRTarBase miRNAs that target TERF2IP:
    hsa-let-7b-5p (MIRT052183), hsa-mir-27a-3p (MIRT028687), hsa-mir-16-5p (MIRT031567), hsa-mir-100-5p (MIRT048531), hsa-mir-590-3p (MIRT016173)

    Block miRNA regulation of human, mouse, rat TERF2IP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TERF2IP (see all 13):
    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
    Products:
        
    OriGene RNAi products in human, mouse, rat for TERF2IP
    Predesigned siRNA for gene silencing in human, mouse, rat TERF2IP

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TERF2IP

    Clone
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    OriGene clones in human, mouse for TERF2IP (see all 8)
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    GenScript: all cDNA clones in your preferred vector: TERF2IP (NM_018975)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TERF2IP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TERF2IP

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TERF2IP 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERF2IP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TE2IP_HUMAN, Q9NYB0: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TERF2IP About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Packaging Of Telomere Ends0.66
    Telomere Maintenance0.64
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    DNA Damage/Telomere Stress Induced Senescence0.65
    2Cellular Senescence
    Cellular Senescence0.81
    Cellular responses to stress0.81
    3Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32
    4Cell Cycle, Mitotic
    Cell Cycle0.90
    5Meiosis (REACTOME)
    Meiosis0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe 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

    3 Reactome Pathways for TERF2IP
        Packaging Of Telomere Ends
    Meiotic synapsis
    DNA Damage/Telomere Stress Induced Senescence



    TERF2IP for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TERF2IP: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TERF2IP

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

    Selected Interacting proteins for TERF2IP (Q9NYB01, 2, 3 ENSP000003000864) via UniProtKB, MINT, STRING, and/or I2D (see all 180)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237724P081073, ENSP000004063594I2D: score=3 STRING: ENSP00000406359
    ENSG00000212866P081073I2D: score=3 
    ENSG00000215328P081073I2D: score=3 
    ENSG00000224501P081073I2D: score=3 
    ENSG00000231555P081073I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated 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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TERF2IP (TE2IP)

    1 Novoseek inferred 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)



    TERF2IP for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    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
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TERF2IP
      QuantiTect SYBR Green Assays in human, mouse, rat TERF2IP
      QuantiFast Probe-based Assays in human, mouse, rat TERF2IP

    Additional mRNA sequence: 

    AF250393.1 AF262988.1 AF289599.1 AK298535.1 AK298880.1 AK307901.1 BC004465.1 BC005841.2 
    BC016739.1 BC022428.1 BC078171.1 

    Selected 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 

    Selected AceView cDNA sequences (see all 467):

    AA325554 CR613478 AI951975 T16111 BE207963 BP366346 AA434343 T34836 
    BQ222570 BQ270895 BE386168 AI359355 CR612877 T36080 BQ639249 BG529655 
    CD723086 CA841113 BX441563 BM705758 AI362285 AW583309 CB851838 BF149399 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TERF2IP expression in normal human tissues (normalized intensities)      TERF2IP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAGGTGAGG
    TERF2IP Expression
    About this image


    TERF2IP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    TERF2IP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TERF2IP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.301419

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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TERF2IP: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TERF2IP
    OriGene qSTAR qPCR primer pairs in human, mouse for TERF2IP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TERF2IP
    QuantiTect SYBR Green Assays in human, mouse, rat TERF2IP
    QuantiFast Probe-based Assays in human, mouse, rat TERF2IP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TERF2IP gene from Selected species (see all 11)    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 58.02(n)
    47.81(a)
      395122  NM_204468.1  NP_989799.1 
    lizard
    (Anolis carolinensis)
    Reptilia TERF2IP6
    telomeric repeat binding factor 2, interacting pro...
    44(a)
    1 ↔ 1
    GL343483.1(278387-279430)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia terf2ip1 telomeric repeat binding factor 2, interacting protein 54.25(n)
    52.16(a)
      779476  NM_001143923.1  NP_001137395.1 
    zebrafish
    (Danio rerio)
    Actinopterygii terf2ip6
    telomeric repeat binding factor 2, interacting pro...
    21(a)
    1 ↔ 1
    22(37449285-37464978) ENSDARG00000035379


    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)
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    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, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TERF2IP (see all 210)    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,F--75683614(+) CTGGCG/ATAACT 1 -- int15Minor allele frequency- A:0.14WA NA EA 362
    rs1437552941,2
    --75683623(+) CTGAAA/TGCCTA 1 -- int10--------
    rs747022861,2
    C--75683628(+) TGCCTA/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
    C--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 - 75795770 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TERF2IP:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1881CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TERF2IP
    DNA2.0 Custom Variant and Variant Library Synthesis for TERF2IP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605061    OMIM disorders: --

    Selected diseases for TERF2IP (see all 22):    About MalaCards
    babesiosis    drug addiction    dyskeratosis congenita    cerebrovascular disease
    tuberous sclerosis    ulcerative colitis    crohn's disease    chronic lymphocytic leukemia
    osteosarcoma    tonsillitis    neuroblastoma    lung cancer
    endotheliitis    tuberculosis    hiv-1    pancreatitis
    leukemia    breast cancer    thyroiditis    cerebritis


    TERF2IP for disorders           About GeneDecksing

    2 Novoseek inferred 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)

    Genetic Association Database (GAD): TERF2IP
    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)
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    PubMed articles for TERF2IP gene, integrated from 10 sources (see all 128):
    (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. (Cell 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. (J. Mol. Biol. 2001)
    3. Shelterin: the protein complex that shapes and safeguards human telomeres. (PubMed id 16166375)1, 2, 9 de Lange T. (Genes Dev. 2005)
    4. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (J. Biol. Chem. 2004)
    5. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PubMed id 19773453)1, 4, 9 Choi J.E....Park J.Y. (amp 2009)
    6. 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. (J. Biol. Chem. 2004)
    7. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. ( international journal of clinical chemistry 2011)
    8. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    9. Multiple genetic variants in telomere pathway genes and breast cancer risk. (PubMed id 20056641)1, 4 Shen J....Santella R.M. (amp 2010)
    10. 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. (Cell 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 54386 HGNC: 19246 AceView: TERF2IP Ensembl:ENSG00000166848 euGenes: HUgn54386
    ECgene: TERF2IP H-InvDB: TERF2IP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

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    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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