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TERT Gene

protein-coding   GIFtS: 73
GCID: GC05M001253

Telomerase Reverse Transcriptase

  See TERT-related diseases
at
MalaCards
 

Aliases
for TERT gene

(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
Telomerase Reverse Transcriptase1 2     CMM92 5
EST22 3 5     DKCA22 5
TCS12 3 5     DKCB42 5
Telomerase Catalytic Subunit2 3     PFBMFT12 5
Telomerase-Associated Protein 22 3     hEST22
TP22 3     hTRT2
TRT2 3     HEST23
EC 2.7.7.493 8     EC 2.7.78

External Ids:    HGNC: 117301   Entrez Gene: 70152   Ensembl: ENSG000001643627   OMIM: 1872705   UniProtKB: O147463   

Export aliases for TERT gene to outside databases

Previous GC identifers: GC05P001643 GC05M001282 GC05M001306


Summaries
for TERT gene

(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 TERT Gene:
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat
TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and
an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in
cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening
of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in
mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere
repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of
telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been
determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase
activity. (provided by RefSeq, Jul 2008)

GeneCards Summary for TERT Gene:
TERT (telomerase reverse transcriptase) is a protein-coding gene. Diseases associated with TERT include bone marrow failure, telomere-related, 1, and pulmonary fibrosis, familial. GO annotations related to this gene include telomerase activity and protein homodimerization activity.

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746
Function: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most
eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells.
Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by
acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template
sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini
with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer
extension and release of product once the template boundary has been reached or nascent product translocation
followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity
is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide
modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis

summary for TERT Gene:
Telomerase is a ribonucleoprotein composed of an internal telomerase RNA template (TERC) and the enzyme,
telomerase reverse transcriptase (TERT). Telomerase adds small repeat sequences of DNA (TTAGGG) to the end
of chromosomes - multiple repeats of this hexanucleotide sequence over a 5kb span are known as a telomere.
During normal cellular replication, telomeres are eroded and thus protect the coding sequences of the DNA.
The erosion of telomeric sequences is thought to form the basis of the cellular clock which eventually
signals for the cell to exit the cell cycle and undergo senescence. Expression of telomerase is low in most
normal cells although it is thought to be active in embryonic cells and some rapidly dividing cells of the
immune system. Overexpression of telomerase is key component of the transformation process in many malignant
cancer cells.

Gene Wiki entry for TERT (Telomerase reverse transcriptase) Gene


Genomic Views
for TERT 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 at NCBI GenBank:
NC_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TERT gene promoter:
         Egr-3   AP-1   Sp1   p53   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TERT

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


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

Entrez Gene cytogenetic band: 5p15.33   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15.33

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M001253:  view genomic region     (about GC identifiers)

Start:
 1,253,262 bp from pter      End:
 1,295,184 bp from pter
Size:
 41,923 bases      Orientation:
 minus strand

Proteins
for TERT gene

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 (See protein sequence)
Recommended Name: Telomerase reverse transcriptase  
Size: 1132 amino acids; 126997 Da
Subunit: Homodimer; dimerization is required to produce a functional complex. Oligomer; can form oligomers in the
absence of the telomerase RNA template component (TERC). Catalytic subunit of the telomerase holoenzyme complex
composed minimally of TERT and TERC. The telomerase complex is composed of TERT, DKC1, WDR79/TCAB1, NOP10, NHP2,
GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). The molecular chaperone HSP90/P23 complex
is required for correct assembly and stabilization of the active telomerase. Interacts directly with HSP90A and
PTGES3. Interacts with HSPA1A; the interaction occurs in the absence of TERC and dissociates once the complex has
formed. Interacts with RAN; the interaction promotes nuclear export of TERT. Interacts with XPO1. Interacts with
PTPN11; the interaction retains TERT in the nucleus. Interacts with NCL (via RRM1 and C-terminal
RRM4/Arg/Gly-rich domains); the interaction is important for nucleolar localization of TERT. Interacts with
SMARCA4 (via the bromodomain); the interaction regulates Wnt-mediated signaling. Interacts with MCRS1 (isoform
MCRS2); the interaction inhibits in vitro telomerase activity. Interacts with PIF1; the interaction has no effect
on the elongation activity of TERT. Interacts with PML; the interaction recruits TERT to PML bodies and inhibits
telomerase activity. Interacts with GNL3L (By similarity)
3 PDB 3D structures from and Proteopedia for TERT:
2BCK (3D)        4B18 (3D)        4MNQ (3D)    
Secondary accessions: O14783 Q2XS35 Q8N6C3 Q8NG38 Q8NG46
Alternative splicing: 4 isoforms:  O14746-1   O14746-2   O14746-3   O14746-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TERT: NX_O14746

Explore proteomics data for TERT at MOPED

Post-translational modifications: 

  • Phosphorylation at Tyr-707 under oxidative stress leads to translocation of TERT to the cytoplasm and reduces its
    antiapoptotic activity. Dephosphorylated by SHP2/PTPN11 leading to nuclear retention. Phosphorylation at Ser-227
    by the AKT pathway promotes nuclear location. Phosphorylation at the G2/M phase at Ser-457 by DYRK2 promotes
    ubiquitination by the EDVP complex and degradation1
  • Ubiquitinated by the EDVP complex, a E3 ligase complex following phosphorylation at Ser-457 by DYRK2.
    Ubiquitinated leads to proteasomal degradation. In case of infection by HIV-1, the EDVP complex is hijacked by
    HIV-1 via interaction between HIV-1 Vpr and DCAF1/VPRBP, leading to ubiquitination and degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
    • Selected DME Specific Peptides for TERT (O14746) (see all 7)
     LRELSEAE  LVAQCLVC  LFLDLQVN  RYWQMRPLF 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001180305.1  NP_937983.2  

    ENSEMBL proteins: 
     ENSP00000309572   ENSP00000425003   ENSP00000334346   ENSP00000426042   ENSP00000296820  
    Reactome Protein details: O14746

    TERT Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for TERT
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TERT
    GenScript Custom Purified and Recombinant Proteins Services for TERT
    Novus Biologicals TERT Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TERT

         		 Search eBioscience for Proteins for TERT 

         		antibodies-online proteins for TERT (3 products) 

         		antibodies-online peptides for TERT

    TERT Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TERT
    R&D Systems Antibodies for TERT
    OriGene Antibodies for TERT
    OriGene Custom Antibody Services for TERT
    Novus Biologicals TERT Antibodies
    Abcam antibodies for TERT
    Cloud-Clone Corp. Antibodies for TERT
    ThermoFisher Antibody for TERT
    antibodies-online antibodies for TERT (159 products) 

    TERT Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TERT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TERT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TERT
    Cloud-Clone Corp. CLIAs for TERT
    Search eBioscience for ELISAs for TERT 
    antibodies-online kits for TERT (50 products) 

    Domains /
    Families
    for TERT gene

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

    TryGeneCards Plus    		 3 InterPro protein domains:
     IPR003545 Telomerase_RT
     IPR000477 RT_dom
     IPR021891 Telomerase_RBD

    Graphical View of Domain Structure for InterPro Entry O14746

    ProtoNet protein and cluster: O14746

    1 Blocks protein domain: IPB003545 Telomere reverse transcriptase signature

    UniProtKB/Swiss-Prot: TERT_HUMAN, O14746
    Domain: The primer grip sequence in the RT domain is required for telomerase activity and for stable association
    with short telomeric primers
    Domain: The RNA-interacting domain 1 (RD1)/N-terminal extension (NTE) is required for interaction with the
    pseudoknot-template domain of each of TERC dimers. It contains anchor sites that bind primer nucleotides upstream
    of the RNA-DNA hybrid and is thus an essential determinant of repeat addition processivity
    Domain: The RNA-interacting domain 2 (RD2) is essential for both interaction with the CR4-CR5 domain of TERC and
    for DNA synthesis
    Similarity: Belongs to the reverse transcriptase family. Telomerase subfamily
    Similarity: Contains 1 reverse transcriptase domain


    Find genes that share domains with TERT           About GenesLikeMe


    Function
    for TERT gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TERT_HUMAN, O14746
    Function: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most
    eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells.
    Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by
    acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template
    sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini
    with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer
    extension and release of product once the template boundary has been reached or nascent product translocation
    followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity
    is regulated by a number of factors including telomerase complex-associated proteins, chaperones and polypeptide
    modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis
    Catalytic activity: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)
    Induction: Activated by cytotoxic events and down-regulated during aging. In peripheral T-lymphocytes, induced By
    CD3 and by PMA/ionomycin. Inhibited by herbimycin B

         Genatlas biochemistry entry for TERT:
    telomerase,catalytic subunit,yeast Est2 homolog,100kDa,involved in telomere maintenance,putative up-regulated
    c-Myc target gene,protein activity deleted in cancer,repressed in normal tissues

         Enzyme Numbers (IUBMB): EC 2.7.7.491 2 EC 2.7.72

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003720telomerase activity IDA12135483
    GO:0003721telomeric template RNA reverse transcriptase activity TAS14991929
    GO:0003723RNA binding ----
    GO:0003964RNA-directed DNA polymerase activity ----
    GO:0005515protein binding IPI12699629
         
    Find genes that share ontologies with TERT           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Tert):
     cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  mortality/aging  nervous system  normal 
     reproductive system  skeleton  taste/olfaction  tumorigenesis 

    Find genes that share phenotypes with TERT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TERT: Terttm1Sear Terttm1Fish Terttm1Rdp Terttm1Yjc Terttm1Leah

       genOway: Develop your customized and physiologically relevant rodent model for TERT

    miRNA
    Products:            		miRTarBase miRNAs that target TERT:
    hsa-mir-138-5p (MIRT003991), hsa-mir-498 (MIRT006931), hsa-mir-335-5p (MIRT017613), hsa-mir-193b-3p (MIRT016371)

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

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TERT

    Clone
    Products:             		 OriGene clones in human, mouse for TERT (see all 13)
    OriGene ORF clones in mouse, rat for TERT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TERT (NM_198253)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TERT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TERT
    Addgene plasmids for TERT 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for TERT
    Browse ESI BIO Cell Lines and PureStem Progenitors for TERT 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERT

    Flow Cytometry
    Products:       
         		eBioscience FlowRNA Probe Sets ( VA1-11742) for TERT 


    Localization
    for TERT gene

    (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
    TERT_HUMAN, O14746: Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus. Chromosome, telomere. Cytoplasm. Nucleus,
    PML body. Note=Shuttling between nuclear and cytoplasm depends on cell cycle, phosphorylation states,
    transformation and DNA damage. Diffuse localization in the nucleoplasm. Enriched in nucleoli of certain cell
    types. Translocated to the cytoplasm via nuclear pores in a CRM1/RAN-dependent manner involving oxidative
    stress-mediated phosphorylation at Tyr-707. Dephosphorylation at this site by SHP2 retains TERT in the nucleus.
    Translocated to the nucleus by phosphorylation by AKT
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular2
    cytoskeleton1
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IC12135483
    GO:0000783nuclear telomere cap complex IC15632080
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005697telomerase holoenzyme complex IDA12135483

    Find genes that share ontologies with TERT           About GenesLikeMe


    Pathways & Interactions
    for TERT gene

    (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 TERT About   (see all 13)  
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Telomere C-strand (Lagging Strand) Synthesis
    		Extension of Telomeres0.79
    		Telomere Extension By Telomerase0.00
    2Packaging Of Telomere Ends
    		Telomere Maintenance0.64
    		Chromosome Maintenance0.62
    3Cell Cycle, Mitotic
    		Cell Cycle0.90
    4Apoptotic Pathways in Synovial Fibroblasts
    		Telomerase Components in Cell Signaling0.72
    5IL2 signaling events mediated by PI3K
    		IL2 signaling events mediated by PI3K0.34


    Find genes that share SuperPaths with TERT           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TERT
        Telomerase Components in Cell Signaling
    14-3-3 and Regulation of BAD Activity
    Telomere Extension by Telomerase

    Selected BioSystems Pathways for TERT (see all 6)
        Id Signaling Pathway
    IL2 signaling events mediated by PI3K
    Regulation of Telomerase
    HIF-1-alpha transcription factor network
    Regulation of Wnt-mediated beta catenin signaling and target gene transcription

    2 Reactome Pathways for TERT
        Telomere Extension By Telomerase
    formation of the beta-catenin:TCF transactivating complex


    1 Kegg Pathway  (Kegg details for TERT):
        HTLV-I infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TERT (see all 9): 
              Lung Cancer in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Liver Cancer in human mouse rat
              Stem Cells in human mouse rat
              Cancer Drug Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TERT

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

    Selected Interacting proteins for TERT (O147461, 2, 3 ENSP000003095724) via UniProtKB, MINT, STRING, and/or I2D (see all 143)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q929001, 2, 3, ENSP000002628034EBI-1772203,EBI-373471 MINT-8286561 MINT-8286551 MINT-8286579 I2D: score=1 STRING: ENSP00000262803
    PMLP29590-51, ENSP000002680584EBI-1772203,EBI-304008 I2D: score=1 STRING: ENSP00000268058
    AKT1P317492, 3, ENSP000002702024MINT-6742762 I2D: score=3 STRING: ENSP00000270202
    RUVBL1Q9Y2651, 3, ENSP000003182974EBI-1772203,EBI-353675 I2D: score=1 STRING: ENSP00000318297
    CIB1Q998283, ENSP000003338734I2D: score=2 STRING: ENSP00000333873
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS12135483
    GO:0006278RNA-dependent DNA replication ----
    GO:0007004telomere maintenance via telomerase TAS--
    GO:0022616DNA strand elongation IDA16043710
    GO:0032203telomere formation via telomerase IDA16043710

    Find genes that share ontologies with TERT           About GenesLikeMe



    Drugs & Compounds
    for TERT gene

    (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)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for TERT
      Browse compounds at ApexBio 

    Compounds for TERT available from Tocris Bioscience    About this table
    CompoundAction CAS #
    TMPyP4 tosylateInhibitor of human telomerase[36951-72-1]
    BIBR 1532Selective telomerase inhibitor[321674-73-1]
    CostunolideInhibitor of human telomerase activity[553-21-9]

    2 HMDB Compounds for TERT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    1 DrugBank Compound for TERT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    ZidovudineAzidothymidine (see all 3)30516-87-1targetinhibitor23303810

    Selected Novoseek inferred chemical compound relationships for TERT gene (see all 50)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 59.3 7 12007281 (2), 11494028 (1), 19419704 (1), 18669893 (1)
    lipofectamine 36.4 1 17495775 (1)
    ganciclovir 26.4 4 19328781 (1), 15312323 (1), 17407070 (1), 19809268 (1)
    retinoic acid 25.4 12 12529350 (2), 15236314 (2), 12939463 (1), 14592454 (1) (see all 7)
    ly294002 24.5 2 16093915 (1)
    depsipeptide 22.8 2 17610380 (1), 15791453 (1)
    oligonucleotide 17.5 5 12838868 (1), 17991312 (1), 12519411 (1)
    cisplatin 16.5 4 11877097 (1), 17923759 (1), 19639202 (1), 11384107 (1)
    etoposide 14 3 12594176 (1), 11718848 (1)
    5-aza-2'deoxycytidine 13.9 2 15805278 (1)



    Find genes that share compounds with TERT           About GenesLikeMe



    Transcripts
    for TERT gene

    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for TERT gene (4 alternative transcripts): 
    NM_001193376.1  NM_198253.2  NM_198254.1  NM_198255.2  

    Unigene Cluster for TERT:

    Telomerase reverse transcriptase
    Hs.492203  [show with all ESTs]
    Unigene Representative Sequence: AF018167
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484238(uc003jbz.1 uc021xvz.1) ENST00000310581(uc003jcb.1 uc003jcc.1 uc003jca.1 uc003jcd.1 uc003jce.1)
    ENST00000460137 ENST00000334602 ENST00000503656 ENST00000508104 ENST00000522877
    ENST00000296820(uc021xwa.1 uc021xwb.1 uc021xwc.1)
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    Additional mRNA sequence: 

    AB085628.1 AF015950.1 AF018167.1 BC062321.1 JF896280.1 JF896281.1 JF896282.1 JF896283.1 
    JF896284.1 JF896285.1 JF896286.1 

    3 DOTS entries:

    DT.108983  DT.101961620  DT.40268927 

    Selected AceView cDNA sequences (see all 29):

    AB085628 NM_198254 AB086950 AW276315 AX810038 AF015950 AI824948 NM_198255 
    NM_198253 AX810036 NM_003219 BC062321 AB086379 AF018167 BE514070 AX810043 
    BM453198 BE514188 AX810378 AA811084 AW270031 AA281296 BM824748 AA299878 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TERT    About this scheme

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


    ECgene alternative splicing isoforms for TERT

    Expression
    for TERT 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™, 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)
    About This Section

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


    TERT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 12 entries
             Line H7 (WA07)
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Ovarian tissue-dissociated cells
             Ddx4-positive cells
     
     Gonad
             Human oogonial stem cells
     
     Germ Cells (Reproductive System)
             Human oogonial stem cells
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             GLP-transfected mesenchymal stem cells
    TERT Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    TERT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492203

    UniProtKB/Swiss-Prot: TERT_HUMAN, O14746
    Tissue specificity: Expressed at a high level in thymocyte subpopulations, at an intermediate level in tonsil
    T-lymphocytes, and at a low to undetectable level in peripheral blood T-lymphocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TERT (see all 9): 
              Lung Cancer in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Liver Cancer in human mouse rat
              Stem Cells in human mouse rat
              Cancer Drug Targets in human mouse rat

    Primer
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    In Situ
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    Orthologs
    for TERT 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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TERT gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tert1 , 5 telomerase reverse transcriptase1, 5 70.94(n)1
    64.53(a)1    		   13 (40.12 cM)5
    217521  NM_009354.11  NP_033380.11 
     736270015 
    chicken
    (Gallus gallus)    		 Aves TERT1 telomerase reverse transcriptase 59.06(n)
    55.37(a)    		   420972  NM_001031007.1  NP_001026178.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TERT6
    		 Uncharacterized protein
    		 39(a)
    		 1 ↔ 1
    		 4(68147845-68189376)
    African clawed frog
    (Xenopus laevis)    		 Amphibia tert-A2 telomerase reverse transcriptase 71.34(n)    AF212299.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tert1 telomerase reverse transcriptase 50.65(n)
    41.08(a)    		   796551  NM_001083866.1  NP_001077335.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes EST2(YLR318W)4 Reverse transcriptase subunit of the telomerase holoenzyme, essential for telomerase core catalytic activity, involved in other aspects of telomerase assembly and function; mutations in human homolog are associated with aplastic anemia less   --   12(766542-769196) 851028  NP_013422.1 


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

    Paralogs
    for TERT gene

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

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    Paralogs for TERT gene
    1 SIMAP similar gene for TERT using alignment to 7 protein entries:     TERT_HUMAN (see all proteins):
    hTERT

    Find genes that share paralogs with TERT           About GenesLikeMe



    Genomic Variants
    for TERT gene

    (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)
    About This Section

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    Selected SNPs for TERT (see all 1753)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1414259411,2,,4
    		CPulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4 --1272311(+) GATGAC/TGACGG 4 I V mis10--------
    rs340947201,2,,4
    		CPulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4 pathogenic11293767(-) AGACGC/TACTGC 4 H Y mis16Minor allele frequency- T:0.00NS NA 192
    VAR_0625444
    		Dyskeratosis congenita, autosomal dominant, 2 (DKCA2)4--see VAR_0625442 F L mis40--------
    VAR_0368704
    		Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4--see VAR_0368702 V M mis40--------
    VAR_0687984
    		Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4--see VAR_0687982 K R mis40--------
    VAR_0368634
    		Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4--see VAR_0368632 A T mis40--------
    VAR_0368684
    		Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4--see VAR_0368682 R H mis40--------
    VAR_0368694
    		Dyskeratosis congenita, autosomal dominant, 2 (DKCA2)4--see VAR_0368692 K N mis40--------
    VAR_0625384
    		Dyskeratosis congenita, autosomal recessive, 4 (DKCB4)4--see VAR_0625382 P R mis40--------
    VAR_0687994
    		Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4--see VAR_0687992 P L mis40--------

    HapMap Linkage Disequilibrium report for TERT (1253262 - 1295184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for TERT (see all 40):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2729466CNV Deletion23290073
    esv2729458CNV Deletion23290073
    esv2742056CNV Deletion23290073
    esv1454284CNV Deletion17803354
    esv2729475CNV Deletion23290073
    esv2729470CNV Deletion23290073
    esv2729456CNV Deletion23290073
    esv2729455CNV Deletion23290073
    esv2729460CNV Deletion23290073
    esv2729467CNV Deletion23290073

    Human Gene Mutation Database (HGMD): TERT
    Locus Specific Mutation Databases (LSDB): TERT

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing TERT:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing TERT
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    Disorders / Diseases
    for TERT 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

    TryGeneCards Plus    		 OMIM gene information: 187270   
    OMIM disorders: 614742  613989  601626  615134  
    UniProtKB/Swiss-Prot: TERT_HUMAN, O14746
  • Note=Activation of telomerase has been implicated in cell immortalization and cancer cell pathogenesis
  • Aplastic anemia (AA) [MIM:609135]: A form of anemia in which the bone marrow fails to produce adequate
    numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • Note=Genetic variations in TERT are associated with coronary artery disease (CAD)
  • Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989]: 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
  • Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742]: A disease
    associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations
    include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly
    myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by
    telomere length. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Dyskeratosis congenita, autosomal recessive, 4 (DKCB4) [MIM:613989]: A severe form of dyskeratosis
    congenita, 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
  • Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]: A lung disease characterized by shortness of breath,
    radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on
    biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury
    with subsequent scarring and end-stage lung disease. Note=Disease susceptibility is associated with variations
    affecting the gene represented in this entry
  • Melanoma, cutaneous malignant 9 (CMM9) [MIM:615134]: A malignant neoplasm of melanocytes, arising de novo
    or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

    • Selected diseases for TERT (see all 31):    
    About MalaCards
    bone marrow failure, telomere-related, 1    pulmonary fibrosis, familial    pulmonary fibrosis, telomere-related, 1    dyskeratosis congenita, autosomal recessive 4
    dyskeratosis congenita, autosomal dominant 2    melanoma, cutaneous malignant, 9    tert-related dyskeratosis congenita    tert-related familial pulmonary fibrosis
    bowenoid papulosis    idiopathic pulmonary fibrosis    acute myeloid leukemia    pulmonary fibrosis
    aplastic anemia    mixed ductal-endocrine carcinoma    tongue cancer    vulvar intraepithelial neoplasia
    medulloepithelioma    dyskeratosis congenita    benign meningioma    biliary tract disease

    3 inferred disease relationships from the University of Copenhagen DISEASES database for TERT:
    Dyskeratosis congenita     Cancer     Idiopathic pulmonary fibrosis

    Find genes that share disorders with TERT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TERT gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dyskeratosis congenita 85 10 15885610 (2), 17454774 (1), 17468339 (1), 19415813 (1) (see all 9)
    dyskeratosis congenita, autosomal dominant 77.5 6 16247010 (1), 17392301 (1), 18460650 (1), 17875000 (1) (see all 5)
    cancer 73.1 215 20478107 (4), 11934015 (4), 14532739 (4), 19809268 (3) (see all 99)
    tumors 69.5 256 10973321 (5), 17130181 (5), 18204433 (5), 17656250 (4) (see all 99)
    hepatocellular carcinoma 57 32 19627485 (2), 18753050 (2), 11944954 (2), 15143919 (2) (see all 27)
    laryngeal squamous cell carcinoma 54.7 13 17592663 (2), 17219990 (2), 15823813 (2), 11911285 (2) (see all 8)
    anemia aplastic 47.6 12 15814878 (2), 15885610 (2), 17625368 (1), 17640862 (1) (see all 8)
    benign meningioma 47.2 2 17227292 (1), 17415213 (1)
    precancerous lesions 47 8 10429648 (2), 14716817 (2), 11906620 (1), 10779229 (1) (see all 5)
    premalignant 44.7 4 14575609 (1), 17581401 (1), 9620778 (1), 9731489 (1)

    GeneTests: TERT
    GeneReviews: TERT
    Genetic Association Database (GAD): TERT
    Human Genome Epidemiology (HuGE) Navigator: TERT (64 documents)

    Export disorders for TERT gene to outside databases

    Publications
    for TERT 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

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    PubMed articles for TERT gene, integrated from 10 sources (see all 1601):
    (articles sorted by number of sources associating them with TERT)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878)1, 2, 4, 9 Yamaguchi H.... Young N.S. (N. Engl. J. Med. 2005)
    2. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. (PubMed id 19147845)1, 2, 4, 9 Calado R.T.... Young N.S. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. (PubMed id 16627250)1, 2, 4, 9 Liang J.... Kojima S. (Haematologica 2006)
    4. Coronary artery disease and a functional polymorphism of hTERT. (PubMed id 16890917)1, 2, 4 Matsubara Y.... Ikeda Y. (Biochem. Biophys. Res. Commun. 2006)
    5. Telomerase catalytic subunit homologs from fission yeast and human. (PubMed id 9252327)1, 2, 3 Nakamura T.M.... Cech T.R. (Science 1997)
    6. Hydrogen peroxide triggers nuclear export of telomerase reverse transcriptase via Src kinase family-dependent phosphorylation of tyrosine 707. (PubMed id 12808100)1, 2, 9 Haendeler J.... Dimmeler S. (Mol. Cell. Biol. 2003)
    7. PML-IV functions as a negative regulator of telomerase by interacting with TERT. (PubMed id 19567472)1, 2, 9 Oh W.... Song J. (J. Cell Sci. 2009)
    8. Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase. (PubMed id 18829466)1, 2, 9 Jakob S.... Haendeler J. (J. Biol. Chem. 2008)
    9. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (PubMed id 17785587)1, 2, 9 Marrone A.... Dokal I. (Blood 2007)
    10. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (PubMed id 18931339)1, 4, 9 Du H.Y....Bessler M. (Blood 2009)

    External Searches for TERT gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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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)

    Genome Databases showing TERT gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 7015 HGNC: 11730 AceView: TERT Ensembl:ENSG00000164362 euGenes: HUgn7015
    ECgene: TERT Kegg: 7015 H-InvDB: TERT

    Other Databases showing TERT gene

    (According to HUGE)
    About This Section

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    Specialized Databases showing TERT gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TERT Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TERT Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tert/

    Intellectual Property
    for TERT gene

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

    TryGeneCards Plus    		Patent Information for TERT gene:
    Search GeneIP for patents involving TERT

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



    Products
    for TERT gene

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