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TINF2 Gene

protein-coding   GIFtS: 59
GCID: GC14M024708

TERF1 (TRF1)-Interacting Nuclear Factor 2

  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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
TERF1 (TRF1)-Interacting Nuclear Factor 21 2
TIN22 3 5
TRF1-Interacting Nuclear Protein 22 3
DKCA32 5
TERF1-Interacting Nuclear Factor 22

External Ids:    HGNC: 118241   Entrez Gene: 262772   Ensembl: ENSG000000923307   OMIM: 6043195   UniProtKB: Q9BSI43   
ORGUL members:         

Export aliases for TINF2 gene to outside databases

Previous GC identifers: GC14M022081 GC14M018496 GC14M022698 GC14M023778 GC14M004823


(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 TINF2 Gene:
This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing
the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a
critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is
important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited
bone marrow failure syndrome. (provided by RefSeq, Mar 2010)

GeneCards Summary for TINF2 Gene:
TINF2 (TERF1 (TRF1)-interacting nuclear factor 2) is a protein-coding gene. Diseases associated with TINF2 include dyskeratosis congenita autosomal dominant, and inherited bone marrow failure syndromes. GO annotations related to this gene include telomeric DNA binding.

UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4
Function: 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. Plays a role in shelterin complex
assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix

Gene Wiki entry for TINF2 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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TINF2 gene promoter:
         Pax-5   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   LCR-F1   IRF-2   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTINF2 promoter sequence
   Search Chromatin IP Primers for TINF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TINF2


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

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

TINF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TINF2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024708:  view genomic region     (about GC identifiers)

Start:
24,708,849 bp from pter      End:
24,711,880 bp from pter
Size:
3,032 bases      Orientation:
minus 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: TINF2_HUMAN, Q9BSI4 (See protein sequence)
Recommended Name: TERF1-interacting nuclear factor 2  
Size: 451 amino acids; 50023 Da
Subunit: Monomer. Found in a complex with POT1; TERF1 and TNKS1. Component of the shelterin complex (telosome)
composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Interacts with TERF1, TERF2 and ACD
2 PDB 3D structures from and Proteopedia for TINF2:
3BQO (3D)        3BU8 (3D)    
Secondary accessions: B3W5Q7 Q9H904 Q9UHC2
Alternative splicing: 3 isoforms:  Q9BSI4-1   Q9BSI4-2   Q9BSI4-3   

Explore the universe of human proteins at neXtProt for TINF2: NX_Q9BSI4

Explore proteomics data for TINF2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TINF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001092744.1  NP_036593.2  

    ENSEMBL proteins: 
     ENSP00000453113   ENSP00000382350   ENSP00000267415   ENSP00000452800   ENSP00000453025  
     ENSP00000453675   ENSP00000452724   ENSP00000453157   ENSP00000442154   ENSP00000437495  
    Reactome Protein details: Q9BSI4

    TINF2 Human Recombinant Protein Products:

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    Novus Biologicals TINF2 Protein
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TINF2

    TINF2 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for TINF2

    TINF2 Assay Products:

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    Cloud-Clone Corp. ELISAs for TINF2
    Cloud-Clone Corp. CLIAs for TINF2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q9BSI4

    UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4
    Domain: The TBM domain mediates interaction with TERF1


    (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: TINF2_HUMAN, Q9BSI4
    Function: 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. Plays a role in shelterin complex
    assembly. Isoform 1 may have additional role in tethering telomeres to the nuclear matrix

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677NOT DNA binding IDA10581025
    GO:0005515protein binding IPI12768206
    GO:0042162telomeric DNA binding IDA12768206
         
    TINF2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TINF2:
     Decreased TP53 protein express 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Tinf2):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     immune system  integument  mortality/aging  nervous system  no phenotypic analysis 
     normal  reproductive system 

    TINF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tinf2tm1Yjc for TINF2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TINF2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TINF2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TINF2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TINF2

    miRNA
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    miRTarBase miRNAs that target TINF2:
    hsa-mir-26b-5p (MIRT030020)

    Block miRNA regulation of human, mouse, rat TINF2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TINF2
    SwitchGear 3'UTR luciferase reporter plasmidTINF2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TINF2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TINF2 (NM_012461)
    Sino Biological Human cDNA Clone for TINF2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TINF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TINF2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TINF2


    (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
    TINF2_HUMAN, Q9BSI4: Nucleus. Chromosome, telomere. Note=Associated with telomeres
    TINF2_HUMAN, Q9BSI4: Isoform 1: Nucleus matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA10581025
    GO:0000783nuclear telomere cap complex IDA16880378
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0010370perinucleolar chromocenter IDA15741234

    TINF2 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 TINF2 About   (see all 7)                                                                                              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, Mitotic
    Cell Cycle0.90
    4Meiosis (REACTOME)
    Meiosis0.74
    5Apoptotic Pathways in Synovial Fibroblasts
    Telomerase Components in Cell Signaling0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TINF2
        Telomerase Components in Cell Signaling
    Telomere Extension by Telomerase

    1 BioSystems Pathway for TINF2
        Regulation of Telomerase


    3 Reactome Pathways for TINF2
        Packaging Of Telomere Ends
    Meiotic synapsis
    DNA Damage/Telomere Stress Induced Senescence



    TINF2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TINF2: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TINF2

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

    Selected Interacting proteins for TINF2 (Q9BSI41, 2, 3 ENSP000002674154) via UniProtKB, MINT, STRING, and/or I2D (see all 113)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TERF1P542741, 2, 3, ENSP000002766034EBI-717418,EBI-710997 MINT-14930 I2D: score=6 STRING: ENSP00000276603
    ACDQ96AP01, 3, ENSP000003774964EBI-717418,EBI-717666 I2D: score=3 STRING: ENSP00000377496
    STAG1Q8WVM72, 3, ENSP000003726894MINT-6178228 I2D: score=1 STRING: ENSP00000372689
    TERF2Q155541, 3, ENSP000002549424EBI-717418,EBI-706637 I2D: score=3 STRING: ENSP00000254942
    TERF2IPQ9NYB01, 3, ENSP000003000864EBI-717418,EBI-750109 I2D: score=2 STRING: ENSP00000300086
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0010833telomere maintenance via telomere lengthening IMP18669893
    GO:0010836negative regulation of protein ADP-ribosylation IGI15133513
    GO:0032202telomere assembly IMP16880378
    GO:0032205negative regulation of telomere maintenance ----

    TINF2 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 TINF2

    2 Novoseek inferred chemical compound relationships for TINF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 99.6 163 15133513 (7), 15316005 (6), 15292264 (6), 15741234 (6) (see all 38)
    adpribose 42.9 4 11494028 (1), 12007281 (1)



    TINF2 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 TINF2 gene (2 alternative transcripts): 
    NM_001099274.1  NM_012461.2  

    Unigene Cluster for TINF2:

    TERF1 (TRF1)-interacting nuclear factor 2
    Hs.496191  [show with all ESTs]
    Unigene Representative Sequence: NM_012461
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558703 ENST00000560019 ENST00000399423(uc010alm.3 uc001wob.4 uc001woc.4)
    ENST00000267415(uc001woa.4 uc010tof.2) ENST00000559969 ENST00000558566
    ENST00000557915 ENST00000559019 ENST00000559549 ENST00000558476 ENST00000559147
    ENST00000557830 ENST00000557921 ENST00000558510 ENST00000540705 ENST00000538777

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    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TINF2
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    GenScript: all cDNA clones in your preferred vector (see all 2): TINF2 (NM_012461)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TINF2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TINF2
      QuantiTect SYBR Green Assays in human, mouse, rat TINF2
      QuantiFast Probe-based Assays in human, mouse, rat TINF2

    Additional mRNA sequence: 

    AF195512.1 AK225379.1 AK294119.1 AK315084.1 BC005030.1 BC019343.1 BX161478.1 EU851975.1 

    17 DOTS entries:

    DT.100857582  DT.95129903  DT.100705911  DT.100857577  DT.100728937  DT.218638  DT.95259981  DT.100857581 
    DT.120749371  DT.95259977  DT.100028932  DT.100760573  DT.100831834  DT.100857575  DT.101966840  DT.120749389 
    DT.95259965 

    Selected AceView cDNA sequences (see all 341):

    BQ707958 BU688304 CR614984 AA464966 AI128221 AA292303 AI312648 AW768583 
    BI767028 BM911894 BX326233 AA040770 BE888165 BI755739 AI471926 AA430551 
    BE276241 BI871294 AA921358 AI077984 T32322 AI279635 BX161478 BX346850 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TINF2 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b
    SP1:                                                                                                            
    SP2:                                                                                                            
    SP3:                    -                                                                                       
    SP4:                                      -     -     -                                                         
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for TINF2

    (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)
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    TINF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCAGAATT
    TINF2 Expression
    About this image

    TINF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TINF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496191

    UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4
    Tissue specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TINF2: 
              Cancer PathwayFinder in human mouse rat
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TINF2
    OriGene qSTAR qPCR primer pairs in human, mouse for TINF2
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    QuantiFast Probe-based Assays in human, mouse, rat TINF2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TINF2

    (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 TINF2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tinf21 , 5 Terf1 (TRF1)-interacting nuclear factor 21, 5 75.12(n)1
    65.94(a)1
      14 (28.19 cM)5
    281131  NM_145705.31  NP_663751.21 
     556790835 
    lizard
    (Anolis carolinensis)
    Reptilia TINF26
    TERF1 (TRF1)-interacting nuclear factor 2
    34(a)
    1 ↔ 1
    GL343400.1(130083-140398)


    ENSEMBL Gene Tree for TINF2 (if available)
    TreeFam Gene Tree for TINF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 TINF2 (see all 166)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0439144
    Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)4--see VAR_0439142 K E mis40--------
    VAR_0439164
    Dyskeratosis congenita, autosomal dominant, 3 (DKCA3)4--see VAR_0439162 R S mis40--------
    VAR_0439154
    Retinopathy exudative with bone marrow failure (ERBMF)4--see VAR_0439152 R H mis40--------
    rs1994223111,2
    Cpathogenic15707193(-) AGCGCC/G/TCCACA 6 P A S mis10--------
    rs1219185451,2
    Cpathogenic15707196(-) AGGAGA/C/TGCCCC 6 S R C mis10--------
    rs1994223221,2
    Cpathogenic15707199(-) ATAAGA/GAGCGC 4 K E mis10--------
    rs1219185431,2
    Cpathogenic15707202(-) GCCATA/G/TAGGAG 6 K E * mis1 stg10--------
    rs1427778691,2
    Cpathogenic15707306(+) TTGAAG/TATGGT 4 Y S mis11Minor allele frequency- T:0.00EU 1323
    rs1999931191,2
    C--5705738(+) TATCT-/AAAAAG 2 -- ds50010--------
    rs1998923631,2
    --5705743(+) AAAAA-/GCTCTG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for TINF2 (24708849 - 24711880 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TINF2: --
    Human Gene Mutation Database (HGMD): TINF2
    Locus Specific Mutation Databases (LSDB): TINF2

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 604319   
    OMIM disorders: 613990  268130  
    UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4
  • Dyskeratosis congenita, autosomal dominant, 3 (DKCA3) [MIM:613990]: A rare multisystem disorder caused by
    defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of
    reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include
    premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among
    others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications,
    or malignancy. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]: A disease characterized by bilateral
    exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin
    pigmentation, cerebellar hypoplasia, and growth retardation. ERBMF appears to be part of the dyskeratosis
    congenita disease spectrum. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for TINF2 (see all 21):    About MalaCards
    dyskeratosis congenita autosomal dominant    inherited bone marrow failure syndromes    tinf2-related dyskeratosis congenita    dyskeratosis congenita, autosomal dominant 3
    dyskeratosis congenita    dyskeratosis congenita x-linked    dyskeratosis congenita, autosomal recessive 4    cerebellar hypoplasia
    aplastic anemia    adult t-cell leukemia    leukoplakia    t-cell leukemia
    pulmonary fibrosis    chronic lymphocytic leukemia    osteosarcoma    leukemia
    multiple myeloma    prostate cancer    prostatitis    myeloma

    1 disease from the University of Copenhagen DISEASES database for TINF2:
    Dyskeratosis congenita

    TINF2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for TINF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastric carcinoma 26.1 6 11494028 (3), 12007281 (1)
    cancer 17.3 2 12530079 (1), 15181449 (1)
    carcinoma 0 2 11494028 (2)

    Genetic Association Database (GAD): TINF2
    Human Genome Epidemiology (HuGE) Navigator: TINF2 (1 document)

    Export disorders for TINF2 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 TINF2 gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with TINF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TIN2, a new regulator of telomere length in human cells. (PubMed id 10581025)1, 2, 3, 9 Kim S.-H.... Campisi J. (Nat. Genet. 1999)
    2. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (PubMed id 18252230)1, 2, 3 Savage S.A....Alter B.P. (Am. J. Hum. Genet. 2008)
    3. A novel form of the telomere-associated protein TIN2 localizes to the nuclear matrix. (PubMed id 19229133)1, 2, 9 Kaminker P.G.... Campisi J. (Cell Cycle 2009)
    4. 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)
    5. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (PubMed id 18669893)1, 4, 9 Walne A.J....Dokal I. (Blood 2008)
    6. A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly. (PubMed id 16880378)1, 2, 9 O'Connor M.S.... Songyang Z. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    7. 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)
    8. Shelterin: the protein complex that shapes and safeguards human telomeres. (PubMed id 16166375)1, 2, 9 de Lange T. (Genes Dev. 2005)
    9. POT1 as a terminal transducer of TRF1 telomere length control. (PubMed id 12768206)1, 2, 9 Loayza D. and De Lange T. (Nature 2003)
    10. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. (PubMed id 15231715)1, 2 Ye J.Z.-S.... de Lange T. (Genes Dev. 2004)

    (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: 26277 HGNC: 11824 AceView: TINF2 Ensembl:ENSG00000092330 euGenes: HUgn26277
    ECgene: TINF2 H-InvDB: TINF2

    (According to HUGE)
    About This Section

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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 TINF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TINF2 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 TINF2 gene:
    Search GeneIP for patents involving TINF2

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



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