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TELO2 Gene

protein-coding   GIFtS: 55
GCID: GC16P001543

Telomere Maintenance 2

(Previous names: TEL2, telomere maintenance 2, homolog (S. cerevisiae))
  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
Telomere Maintenance 21 2     TEL2, Telomere Maintenance 2, Homolog2
Protein Clk-2 Homolog2 3     Telomere Length Regulation Protein TEL2 Homolog2
CLK22 5     hCLK23
TEL22 5     HCLK25
KIAA06833 5     EC 1.1.1.278
TEL2, Telomere Maintenance 2, Homolog (S. Cerevisiae)1     EC 2.7.11.18

External Ids:    HGNC: 290991   Entrez Gene: 98942   Ensembl: ENSG000001007267   OMIM: 6111405   UniProtKB: Q9Y4R83   

Export aliases for TELO2 gene to outside databases

Previous GC identifers: GC16P001484 GC16P001485 GC16P001473


(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 TELO2 Gene:
This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may
also play a role in DNA repair.(provided by RefSeq, Mar 2009)

GeneCards Summary for TELO2 Gene:
TELO2 (telomere maintenance 2) is a protein-coding gene. Diseases associated with TELO2 include fanconi's anemia, and multiple myeloma. GO annotations related to this gene include protein complex scaffold and protein complex binding.

UniProtKB/Swiss-Prot: TELO2_HUMAN, Q9Y4R8
Function: Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize
protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT
complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet
(UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of
newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes,
which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere
length regulation

Gene Wiki entry for TELO2 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  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TELO2 gene promoter:
         AML1a   Pax-5   SREBP-1c   NF-kappaB   SREBP-1b   SREBP-1a   POU2F1a   NF-kappaB2   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTELO2 promoter sequence
   Search Chromatin IP Primers for TELO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TELO2


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

TELO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TELO2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P001543:  view genomic region     (about GC identifiers)

Start:
1,543,345 bp from pter      End:
1,560,460 bp from pter
Size:
17,116 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TELO2_HUMAN, Q9Y4R8 (See protein sequence)
Recommended Name: Telomere length regulation protein TEL2 homolog  
Size: 837 amino acids; 91747 Da
Subunit: Component of the TTT complex composed of TELO2, TTI1 and TTI2. Interacts with ATM, ATR, MTOR, PRKDC,
RUVBL2, TTI1, TTI2, SMG1 and TRRAP. Component of the mTORC1 and mTORC2 complexes
Miscellaneous: Cells overexpressing TELO2 are hypersensitive to hydroxyurea (HU) and undergo apoptotic death in
response to treatment with HU
Sequence caution: Sequence=BAA31658.3; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: D3DU73 O75168 Q7LDV4 Q9BR21

Explore the universe of human proteins at neXtProt for TELO2: NX_Q9Y4R8

Explore proteomics data for TELO2 at MOPED

Post-translational modifications: 

  • Hydroxylation by PHD3 is required for a proper interaction with ATR, and activation of the ATR/CHK1/p53 pathway
    following DNA damage1
  • Phosphorylated at Ser-485 by CK2 following growth factor deprivation, leading to its subsequent ubiquitination by
    the SCF(FBXO9) complex. Phosphorylation by CK2 only takes place when TELO2 is bound to mTORC1, not mTORC2;
    leading to selective ubiquitination of mTORC1-associated protein1
  • Ubiquitinated by the SCF(FBXO9) complex following phosphorylation by CK2 in response to growth factor deprivation,
    leading to its degradation by the proteasome. Only mTORC1-associated protein is ubiquitinated and degraded,
    leading to selective inactivation of mTORC1 to restrain cell growth and protein translation, while mTORC2 is
    activated due to the relief of feedback inhibition by mTORC11
  • Ubiquitination2 at Lys36, Lys51, Lys159, Lys392
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for TELO2 (Q9Y4R8)
     KEEFASA  PPVRRLG 


    See TELO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057195.2  
    ENSEMBL proteins: 
     ENSP00000456383   ENSP00000262319   ENSP00000457461  

    TELO2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR019337 Telomere_length_regulation_dom
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9Y4R8

    ProtoNet protein and cluster: Q9Y4R8

    UniProtKB/Swiss-Prot: TELO2_HUMAN, Q9Y4R8
    Similarity: Belongs to the TEL2 family


    TELO2 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: TELO2_HUMAN, Q9Y4R8
    Function: Regulator of the DNA damage response (DDR). Part of the TTT complex that is required to stabilize
    protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT
    complex is involved in the cellular resistance to DNA damage stresses, like ionizing radiation (IR), ultraviolet
    (UV) and mitomycin C (MMC). Together with the TTT complex and HSP90 may participate in the proper folding of
    newly synthesized PIKKs. Promotes assembly, stabilizes and maintains the activity of mTORC1 and mTORC2 complexes,
    which regulate cell growth and survival in response to nutrient and hormonal signals. May be involved in telomere
    length regulation

         Enzyme Numbers (IUBMB): EC 1.1.1.272 EC 2.7.11.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI18160036
    GO:0032403protein complex binding IDA--
    GO:0032947protein complex scaffold IEA--
         
    TELO2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Telo2):
     cellular  homeostasis/metabolism  mortality/aging 

    TELO2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Telo2tm1.1Tdl for TELO2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TELO2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TELO2

    miRNA
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    miRTarBase miRNAs that target TELO2:
    hsa-mir-16-5p (MIRT032037), hsa-mir-1254 (MIRT035855), hsa-mir-30a-5p (MIRT028628), hsa-mir-93-5p (MIRT048893), hsa-mir-1 (MIRT024065)

    Block miRNA regulation of human, mouse, rat TELO2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TELO2:
    hsa-miR-1283 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidTELO2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TELO2
    Predesigned siRNA for gene silencing in human, mouse, rat TELO2

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    GenScript: all cDNA clones in your preferred vector: TELO2 (NM_016111)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TELO2

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    Browse ESI BIO Cell Lines and PureStem Progenitors for TELO2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TELO2


    (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
    TELO2_HUMAN, Q9Y4R8: Cytoplasm. Membrane. Nucleus. Chromosome, telomere (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IEA--
    GO:0005622intracellular IDA--
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016020membrane IEA--

    TELO2 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 TELO2 About    
    See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for TELO2):
        Fanconi anemia pathway


    TELO2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including TELO2: 
              mTOR Signaling in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TELO2

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

    Selected Interacting proteins for TELO2 (Q9Y4R81, 3 ENSP000002623194) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTI1O431561, 3, ENSP000003625464EBI-1043674,EBI-1055680 I2D: score=1 STRING: ENSP00000362546
    ATMQ133151, 3, ENSP000002786164EBI-1043674,EBI-495465 I2D: score=5 STRING: ENSP00000278616
    PRKDCP785273, ENSP000003134204I2D: score=3 STRING: ENSP00000313420
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=2 STRING: ENSP00000364847
    PSMD6Q150083, ENSP000002959014I2D: score=2 STRING: ENSP00000295901
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032006regulation of TOR signaling IMP--

    TELO2 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 TELO2



    (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,
    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 TELO2 gene: 
    NM_016111.3  

    Unigene Cluster for TELO2:

    TEL2, telomere maintenance 2, homolog (S. cerevisiae)
    Hs.271044  [show with all ESTs]
    Unigene Representative Sequence: NM_016111
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000497339 ENST00000262319(uc010uvg.1 uc002cly.3) ENST00000564507
    ENST00000567423 ENST00000567427 ENST00000569744 ENST00000563676 ENST00000568240

    miRNA
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    Block miRNA regulation of human, mouse, rat TELO2 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate TELO2:
    hsa-miR-1283 hsa-miR-520d-5p hsa-miR-524-5p hsa-miR-3667-3p
    SwitchGear 3'UTR luciferase reporter plasmidTELO2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TELO2
    Predesigned siRNA for gene silencing in human, mouse, rat TELO2
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    GenScript: all cDNA clones in your preferred vector: TELO2 (NM_016111)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TELO2
    Primer
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    OriGene qPCR primer pairs and template standards for TELO2
    OriGene qSTAR qPCR primer pairs in human, mouse for TELO2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TELO2
      QuantiTect SYBR Green Assays in human, mouse, rat TELO2
      QuantiFast Probe-based Assays in human, mouse, rat TELO2

    Additional mRNA sequence: 

    AB014583.3 AK001786.1 AK302103.1 AL080126.1 AL137394.1 BC017188.2 BC028332.1 

    12 DOTS entries:

    DT.91884431  DT.114791  DT.100754713  DT.91962760  DT.92432239  DT.120681711  DT.95278776  DT.92432236 
    DT.100662418  DT.100754714  DT.120681699  DT.95278777 

    Selected AceView cDNA sequences (see all 180):

    AL556047 AI282954 BQ009859 AI829357 AW518341 BE251711 NM_016111 BM011750 
    BE906224 CF529812 BF059594 BI832510 BM986758 BU150521 BU556744 CA423749 
    AL044153 BU623303 CA411677 BM708349 BQ021333 AI926438 AL044150 CB321635 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TELO2 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b ^ 17a ·
    SP1:                                                                                                                                -           -           -   
    SP2:                                                                                                                                -           -               
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:              -                                                                                                                                             

    ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21
    SP1:  -                                 
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for TELO2

    (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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    TELO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCCTGGA
    TELO2 Expression
    About this image


    TELO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    TELO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TELO2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.271044
        Pathway & Disease-focused RT2 Profiler PCR Array including TELO2: 
              mTOR Signaling in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for TELO2
    OriGene qSTAR qPCR primer pairs in human, mouse for TELO2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TELO2
    QuantiTect SYBR Green Assays in human, mouse, rat TELO2
    QuantiFast Probe-based Assays in human, mouse, rat TELO2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TELO2

    (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 TELO2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Telo21 , 5 TEL2, telomere maintenance 2, homolog (S. cerevisiae)1, 5 78.89(n)1
    75.15(a)1
      17 (12.53 cM)5
    717181  NM_001163661.11  NP_001157133.11 
     250995705 
    chicken
    (Gallus gallus)
    Aves TELO21 TEL2, telomere maintenance 2, homolog (S. cerevisiae) 65.98(n)
    62.62(a)
      416757  XM_415052.4  XP_415052.4 
    lizard
    (Anolis carolinensis)
    Reptilia TELO26
    telomere maintenance 2
    59(a)
    1 ↔ 1
    GL343649.1(16208-36086)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia telo21 telomere maintenance 2 56.07(n)
    52(a)
      780338  NM_001079408.1  NP_001072876.1 
    zebrafish
    (Danio rerio)
    Actinopterygii telo21 TEL2, telomere maintenance 2, homolog (S. cerevisiae) 54.9(n)
    48.01(a)
      777634  NM_001077741.1  NP_001071209.1 


    ENSEMBL Gene Tree for TELO2 (if available)
    TreeFam Gene Tree for TELO2 (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 TELO2 (see all 644)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs27451061,2
    C,F,A,H--1541461(+) AATGGC/TCACCT 1 -- us2k122Minor allele frequency- T:0.13NS EA NA WA 2760
    rs1416063251,2
    --1541496(+) CTACCA/GTCTGC 1 -- us2k10--------
    rs1869876011,2
    C--1541701(+) CTGCCA/C/GTTTTC 1 -- us2k10--------
    rs1500848361,2
    --1541736(+) TGTCAA/GCACAT 1 -- us2k10--------
    rs1387695221,2
    --1541803(+) CCCACA/TGCTCT 1 -- us2k10--------
    rs1416510101,2
    C--1541821(+) TTTTC-/TTTTTTT 1 -- us2k10--------
    rs346500411,2
    C--1541834(+) TTTTT-/TTGGAGG 1 -- us2k11Minor allele frequency- TT:0.00NA 2
    rs29748441,2
    C,F,A,H--1541886(+) TCTCCA/CCTCAT 1 -- us2k17Minor allele frequency- C:0.38WA NA CSA EA 368
    rs792761011,2
    C,F--1541894(+) CATTGC/TAACCT 1 -- us2k14Minor allele frequency- T:0.10WA CSA NA 126
    rs1922396971,2
    --1541934(+) CCTCAC/GCCTCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TELO2 (1543345 - 1560460 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TELO2 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750345CNV Deletion23290073
    esv2750346CNV Deletion23290073
    esv1008115CNV Deletion20482838
    esv2741194CNV Deletion23290073
    esv2422427CNV Duplication17116639
    nsv904954CNV Loss21882294
    nsv904950CNV Loss21882294
    dgv2527n71CNV Loss21882294
    nsv905018CNV Loss21882294
    dgv2537n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): TELO2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TELO2
    DNA2.0 Custom Variant and Variant Library Synthesis for TELO2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611140    OMIM disorders: --

    5 diseases for TELO2:    
    About MalaCards
    fanconi's anemia    multiple myeloma    myeloma    ataxia
    malaria


    TELO2 for disorders           About GeneDecksing


    Export disorders for TELO2 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 TELO2 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with TELO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human CLK2 links cell cycle progression, apoptosis, and telomere length regulation. (PubMed id 12670948)1, 2, 3 Jiang N.... Hekimi S. (J. Biol. Chem. 2003)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    4. Tti1 and Tel2 are critical factors in mammalian target of rapamycin complex assembly. (PubMed id 20427287)1, 2 Kaizuka T.... Mizushima N. (J. Biol. Chem. 2010)
    5. Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes. (PubMed id 20801936)1, 2 Takai H.... Pavletich N.P. (Genes Dev. 2010)
    6. A genetic screen identifies the Triple T complex required for DNA damage signaling and ATM and ATR stability. (PubMed id 20810650)1, 2 Hurov K.E.... Elledge S.J. (Genes Dev. 2010)
    7. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    8. VCP phosphorylation-dependent interaction partners prevent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (PLoS ONE 2013)
    9. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    10. SCF(Fbxo9) and CK2 direct the cellular response to growth factor withdrawal via Tel2/Tti1 degradation and promote survival in multiple myeloma. (PubMed id 23263282)2 Fernandez-Saiz V....Bassermann F. (Nat. Cell Biol. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 9894 HGNC: 29099 AceView: KIAA0683 Ensembl:ENSG00000100726 euGenes: HUgn9894
    ECgene: TELO2 Kegg: 9894 H-InvDB: TELO2

    (According to HUGE)
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    HUGE: KIAA0683

    (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 TELO2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TELO2 gene:
    Search GeneIP for patents involving TELO2

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



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