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

TERF2IP Gene

protein-coding   GIFtS: 59
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 dyskeratosis congenita, and among its related super-pathways are Meiotic Synapsis and Telomere Maintenance. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for TERF2IP at MOPED 

Post-translational modifications:

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

  • TERF2IP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    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 Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    LSBio Antibodies in human, mouse, rat for TERF2IP 

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    Cloud-Clone Corp. CLIAs for TERF2IP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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 IPI14690602
    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:
         MGI mouse knock-out Terf2iptm1.2Tdl for TERF2IP

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TERF2IP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    SwitchGear 3'UTR luciferase reporter plasmidTERF2IP 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TERF2IP About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    2Packaging Of Telomere Ends
    Packaging Of Telomere Ends0.56
    Telomere Maintenance0.56
    3DNA Damage
    DNA Damage0.32
    Cell Cycle / Checkpoint Control0.32
    4Cell Cycle
    Cell Cycle0.84
    5Telomere Extension by Telomerase
    Telomere Extension by Telomerase

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/6        Reactome Pathways for TERF2IP (see all 6)
        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)

    5/180 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): 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, Ligands according to IUPHAR, 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 (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)

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

    (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,
    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, Sirion Biotech, 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
    miRNA
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    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 

    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):

    BC022428 AW583309 CB069934 AI422892 AA325554 AI359355 T34836 CD723086 
    W19779 CA841113 BE207963 AV714695 AA865293 CB068671 BU687403 BM690071 
    AA769291 AL535048 AW028907 BQ649773 AA382948 AA758367 AJ707088 AA361398 

    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)      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 
     5/25 selected tissues (see all 25) fully expand
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Epithelium (Reproductive System)    fully expand to see all 3 entries
             cervix, uterine ; squamous epithelial cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    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: 
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    In Situ
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    (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 4/10 species (see all 10)    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
    Uncharacterized protein
    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, 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) 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

    10/210 SNPs in TERF2IP are shown (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 - 75795051 bp)

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

    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605061    OMIM disorders: --

    16 diseases for TERF2IP:    About MalaCards
    babesiosis    dyskeratosis congenita    cerebrovascular disease    tuberous sclerosis
    chronic lymphocytic leukemia    ulcerative colitis    crohn's disease    osteosarcoma
    neuroblastoma    lung cancer    gastric cancer    endotheliitis
    pancreatitis    leukemia    breast cancer    neuronitis


    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)
    About This Section

    PubMed articles for TERF2IP gene, integrated from 9 sources (see all 124):
    (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. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PubMed id 19773453)1, 4, 9 Choi J.E....Park J.Y. (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. (2004)
    7. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Hea lth Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. (2011)
    8. Multiple genetic variants in telomere pathway genes a nd breast cancer risk. (PubMed id 20056641)1, 4 Shen J....Santella R.M. (2010)
    9. Fine mapping and association studies of a high-densit y lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian su bjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (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. (2009)

    (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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