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

TINF2 Gene

protein-coding   GIFtS: 55
GCID: GC14M024708

TERF1 (TRF1)-interacting nuclear factor 2
 Explore 19 diseases affiliated with
TINF2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TINF2    

Aliases
for TINF2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
TERF1 (TRF1)-Interacting Nuclear Factor 21 2
TIN21 2 3 5
TRF1-Interacting Nuclear Protein 22 3
DKCA32
TERF1-Interacting Nuclear Factor 22

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

Export aliases for TINF2 gene to outside databases

Previous GC identifers: GC14M022081 GC14M018496 GC14M022698 GC14M023778 GC14M004823


Summaries
for TINF2 gene

(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 TINF2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 plasmid: TINF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TINF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TINF2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Nucleus. Chromosome, telomere. Note=Associated with telomeres
Subcellular location: Isoform 1: Nucleus matrix
2 PDB 3D structures from and Proteopedia for TINF2:
3BQO (3D)        3BU8 (3D)    
Secondary accessions: Q9H904 Q9UHC2
Alternative splicing: 3 isoforms:  Q9BSI4-1   Q9BSI4-2   Q9BSI4-3   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BSI4

    • TINF2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals TINF2 Protein
    Novus Biologicals TINF2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TINF2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA15380063
    GO:0000783nuclear telomere cap complex IDA16880378
    GO:0005654nucleoplasm TAS--
    GO:0010370perinucleolar chromocenter IDA15741234
    GO:0016363nuclear matrix IEA--


    TINF2 for ontologies           About GeneDecksing



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    ThermoFisher Antibodies for TINF2

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    Uscn ELISAs and CLIAs for TINF2

    Protein Domains /
    Families
    for TINF2 gene

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

    ProtoNet protein and cluster: Q9BSI4

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


    Function
    for TINF2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TINF2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677NOT DNA binding IDA10581025
    GO:0005515protein binding IPI15380063
    GO:0042162telomeric DNA binding IDA12768206


    TINF2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TINF2:
     Decreased TP53 protein express 

    Animal Models:
         Mouse knock-out Tinf2tm1Yjc for TINF2
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tinf2):
     mortality/aging  no phenotypic analysis 

    TINF2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TINF2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Meiotic Synapsis
    		Meiotic Synapsis1.00
    		Chromosome Maintenance0.56
    		Telomere clustering at the nuclear membrane0.82
    		Packaging Of Telomere Ends0.54
    		Meiosis0.70
    		Telomere Maintenance0.38
    2Cell Cycle
    		Cell Cycle1.00
    3Telomere Extension by Telomerase
    		Telomere Extension by Telomerase1.00
    4Regulation of Telomerase
    		Regulation of Telomerase1.00
    5Apoptotic Pathways in Synovial Fibroblasts
    		Telomerase Components in Cell Signaling0.72

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    1 BioSystems Pathway for TINF2 
        Regulation of Telomerase

    5/7        Reactome Pathways for TINF2 (see all 7)
        Telomere Maintenance
    Meiotic Synapsis
    Packaging Of Telomere Ends
    Cell Cycle
    Meiosis



    TINF2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TINF2

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

    5/114 Interacting proteins for TINF2 (Q9BSI41, 2, 3 ENSP000002674154) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    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): 5/10 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for TINF2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TINF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for TINF2
    2 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TINF2 

    Transcripts
    for TINF2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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


    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: TINF2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TINF2 (see all 7)
    OriGene shRNA RFP: TINF2
    OriGene siRNA: TINF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TINF2
    Clone
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    Additional cDNA 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 

    24/341 AceView cDNA sequences (see all 341):

    BU739052 BM983090 AI027194 AA746067 AL598952 AI340366 CD244144 AA255627 
    BI767028 AI312648 BX432670 AW768583 BE407533 BQ672924 AA399353 BU634287 
    BQ222471 CR591539 AI301146 CR621443 BI833558 BC005030 CR598536 AA430551 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for TINF2 gene

    (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

    TINF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTCAGAATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See TINF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TINF2

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TINF2: 
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              Telomeres & Telomerase in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for TINF2 gene

    (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 TINF2 gene from 3/9 species (see all 9)    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
    		 --
    		 35(a)
    		 1 ↔ 1
    		 GL343400.1(130083-135954)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1132636
    tinf26
    		 TERF1 (TRF1)-interacting nuclear factor 2
    		 7(a)
    17(a)
    		 many → 1
    many → 1
    		 4(5214841-5241407)
    7(25190744-25207152)


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

    Paralogs
    for TINF2 gene

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

    Genomic Variants
    for TINF2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/119 NCBI SNPs in TINF2 are shown (see all 119)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994223111,2
    		Cpathogenic4824609(-) AGCGCC/G/TCCACA 6 P A S mis10--------
    rs1219185451,2
    		Cpathogenic4824612(-) AGGAGA/C/TGCCCC 6 S R C mis10--------
    rs1994223221,2
    		Cpathogenic4824615(-) ATAAGA/GAGCGC 4 K E mis10--------
    rs1219185431,2
    		Cpathogenic4824618(-) GCCATA/G/TAGGAG 6 K E * mis1 stg10--------
    rs1427778691,2
    		C,pathogenic4824722(+) TTGAAG/TATGGT 4 Y S mis11Minor allele frequency- T:0.00EU 1323
    rs799552911,2
    		--4823220(+) TAAAGA/GGATGC 2 -- ds50012Minor allele frequency- G:0.17CSA WA 120
    rs128835821,2
    		H--4823871(+) CAAGGT/GGTCAA 3 /T /P ut31 mis1 ese34Minor allele frequency- G:0.00NS EA 420
    rs128977041,2
    		H--4823913(+) CTGTAG/AAGAAG 2 -- ut31 int1 trp34Minor allele frequency- A:0.00NS EA 416
    rs128978701,2
    		H--4823942(+) TATCCG/CAAACC 2 -- ut31 int14Minor allele frequency- C:0.00NS EA 416
    rs128794761,2
    		H--4823943(+) ATCCGA/GAACCA 2 -- ut31 int14Minor allele frequency- G:0.00NS EA 418

    HapMap Linkage Disequilibrium report for TINF2 (24708849 - 24711880 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TINF2: --
    Human Gene Mutation Database (HGMD): TINF2

    Locus Specific Mutation Databases (LSDB): TINF2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for TINF2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TINF2 for disorders           About GeneDecksing

    OMIM gene information: 604319   
    OMIM disorders: 127550  268130  
    UniProtKB/Swiss-Prot: TINF2_HUMAN, Q9BSI4
  • Defects in TINF2 are a cause of dyskeratosis congenita autosomal dominant type 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
  • Defects in TINF2 are a cause of retinopathy exudative with bone marrow failure (ERBMF) [MIM:268130]; also
    • known as Revesz syndrome. ERBMF is characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail
    dystrophy, fine hair, cerebellar hypoplasia, and growth retardation

    19 diseases for TINF2:    About MalaCards
    dyskeratosis congenita    dyskeratosis    dyskeratosis congenita autosomal dominant    cerebellar hypoplasia
    aplastic anemia    adult t-cell leukemia    chronic lymphocytic leukemia    lymphocytic leukemia
    leukoplakia    t-cell leukemia    leukemia    anemia
    osteoporosis    gastric cancer    osteosarcoma    prostate cancer
    breast cancer    carcinoma    prostatitis

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: TINF2 (1 document)

    Export disorders for TINF2 gene to outside databases

    Publications
    for TINF2 gene

    (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 TINF2 gene, integrated from 9 sources (see all 70):
    (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. (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. (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. (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. (2004)
    5. 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. (2006)
    6. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (2004)
    7. Shelterin: the protein complex that shapes and safeguards human telomeres. (PubMed id 16166375)1, 2, 9 de Lange T. (2005)
    8. POT1 as a terminal transducer of TRF1 telomere length control. (PubMed id 12768206)1, 2, 9 Loayza D. and De Lange T. (2003)
    9. 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. (2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    External Searches for TINF2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing TINF2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26277 HGNC: 11824 AceView: TINF2 Ensembl:ENSG00000092330 euGenes: HUgn26277
    ECgene: TINF2 H-InvDB: TINF2

    Other Databases showing TINF2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TINF2 gene

    (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 TINF2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TINF2 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for TINF2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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