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

TELO2 Gene

protein-coding   GIFtS: 53
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)
About This Section

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

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 macular degeneration. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TELO2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Cytoplasm. Membrane. Nucleus. Chromosome, telomere (Probable)
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:

  • UniProtKB: Hydroxylation by PHD3 is required for a proper interaction with ATR, and activation of the ATR/CHK1/p53 pathway
    following DNA damage
  • UniProtKB: 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 protein
  • UniProtKB: 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 mTORC1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y4R8

  • 2 DME Specific Peptides for TELO2 (Q9Y4R8)
     KEEFASA  PPVRRLG 

    TELO2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TELO2 Protein Expression
    REFSEQ proteins: NP_057195.2  
    ENSEMBL proteins: 
     ENSP00000456383   ENSP00000262319   ENSP00000457461  

    Human Recombinant Protein Products for TELO2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TELO2 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019337 Telomere_length_regulation_dom

    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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for TELO2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TELO2

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    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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TELO2


    (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 TELO2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TELO2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/29 Interacting proteins for TELO2 (Q9Y4R81, 3 ENSP000002623194) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    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 (GO ID links to tree view):    About this table

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

    TELO2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TELO2

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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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    4 QIAGEN miScript miRNA 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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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TELO2
      QIAGEN 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 

    24/180 AceView cDNA sequences (see all 180):

    BU150521 BG171755 AW518341 AI829357 BM011750 AL556047 AL080126 AL555842 
    BE251711 BU556744 BC017188 BQ009859 CR599116 NM_016111 BM669341 AI926438 
    BQ446656 AI631620 BX365578 BQ438251 BI832510 CA411677 AB014583 AI282954 

    GeneLoc Exon Structure

    5/10 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™, 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

    TELO2 expression in normal human tissues (normalized intensities)      TELO2 embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             corneal epithelial basal cells   
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             corneal epithelial basal cells   
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm

    See TELO2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TELO2

    SOURCE GeneReport for Unigene cluster: Hs.271044
        SABiosciences Expression via Pathway-Focused PCR Array including TELO2: 
              mTOR Signaling in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TELO2 gene from 8/15 species (see all 15)    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 78.77(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) 66.26(n)
    63.05(a)
      416757  XM_415052.3  XP_415052.3 
    lizard
    (Anolis carolinensis)
    Reptilia TELO26
    Uncharacterized protein
    60(a)
    1 ↔ 1
    GL343649.1(16208-36086)
    zebrafish
    (Danio rerio)
    Actinopterygii telo21 TEL2, telomere maintenance 2, homolog (S. cerevisiae) 54.24(n)
    46.46(a)
      777634  NM_001077741.1  NP_001071209.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0045051 AGAP004505-PA 40.17(n)
    28.02(a)
      4577426  XM_001237544.2  XP_001237545.2 
    worm
    (Caenorhabditis elegans)
    Secernentea clk-26
    Telomere length regulation protein clk-2
    17(a)
    1 ↔ 1
    III(7515223-7518524)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB24231 protein embryo defective 2423 37.24(n)
    27.67(a)
      824006  NM_148864.3  NP_680117.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g05984001 hypothetical protein 40.9(n)
    32.92(a)
      4329876  NM_001053867.1  NP_001047332.1 


    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)
    About This Section
      --

    (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

    10/644 SNPs in TELO2 are shown (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) 10/22 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

    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611140    OMIM disorders: --

    6 diseases for TELO2:    About MalaCards
    fanconi's anemia    macular degeneration    anemia    ataxia
    multiple myeloma    myeloma


    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)
    About This Section

    PubMed articles for TELO2 gene, integrated from 9 sources (see all 44):
    (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. (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. (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. (1998)
    4. Tti1 and Tel2 are critical factors in mammalian targe t of rapamycin complex assembly. (PubMed id 20427287)1, 2 Kaizuka T....Mizushima N. (2010)
    5. Tel2 structure and function in the Hsp90-dependent ma turation of mTOR and ATR complexes. (PubMed id 20801936)1, 2 Takai H....Pavletich N.P. (2010)
    6. A genetic screen identifies the Triple T complex requ ired for DNA damage signaling and ATM and ATR stability. (PubMed id 20810650)1, 2 Hurov K.E....Elledge S.J. (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. (2001)
    8. VCP phosphorylation-dependent interaction partners pre vent apoptosis in Helicobacter pylori-infected gastric epithelial cells. (PubMed id 23383273)1 Yu C.C....Chow L.P. (2013)
    9. 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. (2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9894 HGNC: 29099 AceView: KIAA0683 Ensembl:ENSG00000100726 euGenes: HUgn9894
    ECgene: TELO2 Kegg: 9894 H-InvDB: TELO2

    (According to HUGE)
    About This Section
    HUGE: KIAA0683

    (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 TELO2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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