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

TERT Gene

protein-coding   GIFtS: 74
GCID: GC05M001253

Telomerase Reverse Transcriptase
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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)
About This Section
Aliases
Telomerase Reverse Transcriptase1 2     CMM92
EST22 3 5     DKCA22
TCS12 3 5     DKCB42
Telomerase Catalytic Subunit2 3     PFBMFT12
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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 aplastic anemia, and tert-related familial pulmonary fibrosis, and among its related super-pathways are Telomere C-strand (Lagging Strand) Synthesis and Cell Cycle, Mitotic. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TERT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: 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
1 PDB 3D structure from and Proteopedia for TERT:
2BCK (3D)    
Secondary accessions: O14783 Q2XS35 Q8N6C3 Q8NG46
Alternative splicing: 3 isoforms:  O14746-1   O14746-2   O14746-3   (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:

  • UniProtKB: Ubiquitinated, leading to proteasomal degradation
  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14746

    • 4/7 DME Specific Peptides for TERT (O14746) (see all 7)
     LRELSEAE  LVAQCLVC  LFLDLQVN  RYWQMRPLF 

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

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

    ENSEMBL proteins: 
     ENSP00000309572   ENSP00000425003   ENSP00000334346   ENSP00000426042   ENSP00000296820  
    Reactome Protein details: O14746
    Human Recombinant Protein Products for TERT: 
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    OriGene Protein Over-expression Lysate for TERT
    OriGene Custom MassSpec 
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    Novus Biologicals TERT Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TERT 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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

    TERT for ontologies           About GeneDecksing



    TERT Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TERT
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    Novus Biologicals TERT Antibodies
    Abcam antibodies for TERT
    Cloud-Clone Corp. Antibodies for TERT 
    ThermoFisher Antibody for TERT
    LSBio Antibodies in human, mouse, rat for TERT 

    Assay Products for TERT: 
    Browse Kits and Assays available from EMD Millipore
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    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

    Protein 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
    		 3 InterPro protein domains:
     IPR003545 Telomerase_RT
     IPR000477 RVT
     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


    TERT for domains           About GeneDecksing


    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, 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: 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): 5/9 molecular function terms (GO ID links to tree view) (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
         
    TERT for ontologies           About GeneDecksing


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

    TERT for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TERT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TERT

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

    miRNA
    Products:            		miRTarBase miRNAs that target TERT:
    hsa-mir-138 (MIRT003991)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TERT
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate TERT
    SwitchGear 3'UTR luciferase reporter plasmid: TERT 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TERT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TERT

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for TERT
    Sirion Biotech Customized adenovirus for overexpression of TERT

    Clone
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    OriGene clones in human, mouse for TERT (see all 12)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of TERT 
                         Customized lentivirus expression plasmids for stable overexpression of TERT 

    Cell Line
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    Search LifeMap BioReagents cell lines for TERT
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERT


    Pathways & Interactions
    for TERT gene

    (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 TERT About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Lagging Strand Synthesis
    		Extension of Telomeres0.92
    2Cell Cycle
    		Cell Cycle0.84
    3Apoptotic Pathways in Synovial Fibroblasts
    		Telomerase Components in Cell Signaling0.72
    4Packaging Of Telomere Ends
    		Telomere Maintenance0.56
    5Meiotic Synapsis
    		Chromosome Maintenance0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    5/6 BioSystems Pathways for TERT (see all 6)
        Id Signaling Pathway
    HIF-1-alpha transcription factor network
    IL2 signaling events mediated by PI3K
    Regulation of Telomerase
    Validated targets of C-MYC transcriptional activation

    5        Reactome Pathways for TERT
        Extension of Telomeres
    Telomere Maintenance
    Cell Cycle
    Chromosome Maintenance
    Telomere Extension By Telomerase


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


    TERT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TERT

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

    5/93 Interacting proteins for TERT (O147461, 2, 3 ENSP000003095724) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF1Q929002, 3, ENSP000002628034MINT-8286561 MINT-8286551 MINT-8286579 I2D: score=1 STRING: ENSP00000262803
    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
    MCRS1Q96EZ83, ENSP000003496404I2D: score=2 STRING: ENSP00000349640
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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

    TERT for ontologies           About GeneDecksing



    Drugs & Compounds
    for TERT gene

    (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

    TERT for compounds           About GeneDecksing

    EMD Millipore small molecules for TERT:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for TERT

    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

    10/50 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)

    Search CenterWatch for drugs/clinical trials and news about TERT

    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,
    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 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TERT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TERT
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                         Customized lentivirus expression plasmids for stable overexpression of TERT 
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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 

    24/29 AceView cDNA sequences (see all 29):

    AX810038 NM_003219 AW276315 AX810036 AB086950 NM_198254 NM_198253 BC062321 
    AF015950 NM_198255 AI824948 AB085628 AB086379 AF018167 BE514188 AX810378 
    BE514070 AW270031 BM453198 AA281296 AA811084 AX810043 AA311750 BM824748 

    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™, 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

    TERT expression in normal human tissues (normalized intensities)      TERT embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 10 entries
             Line H7 (WA07)
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             GLP-transfected mesenchymal stem cells
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian tissue-dissociated cells (human)
     
     Uterus (Reproductive System)
             Endometrial regenerative cells
     
     Heart (Cardiovascular System)
             Cardiac progenitor cells (Sca1+)

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

    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

        SABiosciences Expression via Pathway-Focused 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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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERT
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERT

    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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TERT gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Tert1 , 5 telomerase reverse transcriptase1, 5 70.97(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 56.89(n)
    52.89(a)    		   420972  NM_001031007.1  NP_001026178.1 
    lizard
    (Anolis carolinensis)    		 Reptilia TERT6
    		 Telomerase reverse transcriptase
    		 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 47.95(n)
    37.75(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 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons TERT1 telomerase reverse transcriptase 41.22(n)
    28.78(a)    		   831548  NM_121691.3  NP_197187.1 
    rice
    (Oryza sativa)    		 Liliopsida Os12g02931001 hypothetical protein 39.61(n)
    30.21(a)    		   4352024  NM_001073142.1  NP_001066610.1 


    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
    Paralogs for TERT gene
    1 SIMAP similar gene for TERT using alignment to 8 protein entries:     TERT_HUMAN (see all proteins):
    hTERT

    TERT for paralogs           About GeneDecksing



    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) 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

    10/1753 SNPs in TERT are shown (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
    ----------
    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--------
    VAR_0687924
    		Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)4--see VAR_0687922 V M mis40--------
    VAR_0625404
    		Dyskeratosis congenita, autosomal recessive, 4 (DKCB4)4--see VAR_0625402 R C mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/40 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
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing TERT:
    Oncogenes & Tumor Suppressor Genes 384HC
    SeqTarget long-range PCR primers for resequencing TERT
    DNA2.0 Custom Variant and Variant Library Synthesis for TERT

    Disorders / Diseases
    for TERT gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 187270   
    OMIM disorders: 609135  178500  127550  
    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. It results in acute lung injury with subsequent scarring and endstage lung disease. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

    • 20/163 diseases for TERT (see all 163):    About MalaCards
    aplastic anemia    tert-related familial pulmonary fibrosis    tert-related dyskeratosis congenita    bowenoid papulosis
    dyskeratosis congenita autosomal dominant    medulloepithelioma    tongue cancer    mixed ductal-endocrine carcinoma
    pulmonary fibrosis, familial    dyskeratosis congenita    pulmonary fibrosis    inherited bone marrow failure syndromes
    rhinotracheitis    dyskeratosis congenita autosomal recessive    benign meningioma    cri-du-chat syndrome
    penile cancer    vulvar intraepithelial neoplasia    skin tag    laryngitis

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

    TERT for disorders           About GeneDecksing

    10/95 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

    PubMed articles for TERT gene, integrated from 9 sources (see all 1553):
    (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. (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. (2009)
    3. Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. (PubMed id 16627250)1, 2, 4, 9 Liang J.... Kojima S. (2006)
    4. Coronary artery disease and a functional polymorphism of hTERT. (PubMed id 16890917)1, 2, 4 Matsubara Y.... Ikeda Y. (2006)
    5. Telomerase catalytic subunit homologs from fission yeast and human. (PubMed id 9252327)1, 2, 3 Nakamura T.M.... Cech T.R. (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. (2003)
    7. PML-IV functions as a negative regulator of telomeras e by interacting with TERT. (PubMed id 19567472)1, 2, 9 Oh W....Song J. (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. (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. (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. (2008)

    External Searches for TERT gene

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

    Specialized Databases showing TERT gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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
    		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



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    About This Section

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    transforming growth factor, beta 1
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