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TERT (telomerase reverse transcriptase)

Identity

Alias_symbol (synonym)TRT
TP2
TCS1
hEST2
EST2
Other aliasCMM9
DKCA2
DKCB4
PFBMFT1
hTRT
HGNC (Hugo) TERT
LocusID (NCBI) 7015
Atlas_Id 439
Location 5p15.33  [Link to chromosome band 5p15]
Location_base_pair Starts at 1253172 and ends at 1295047 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CCDC127 (5p15.33) / TERT (5p15.33)DROSHA (5p13.3) / TERT (5p15.33)IGH (14q32.33) / TERT (5p15.33)
IRX2 (5p15.33) / TERT (5p15.33)MTMR12 (5p13.3) / TERT (5p15.33)NAA30 (14q22.3) / TERT (5p15.33)
PDCD6 (5p15.33) / TERT (5p15.33)PPP2R1B (11q23.1) / TERT (5p15.33)SLC2A13 (12q12) / TERT (5p15.33)
TERT (5p15.33) / ALK (2p23.2)TERT (5p15.33) / IL18 (11q23.1)TRIO (5p15.2) / TERT (5p15.33)
TTLL7 (1p31.1) / TERT (5p15.33)CCDC127 5p15.33 / TERT 5p15.33DROSHA 5p13.3 / TERT 5p15.33
MTMR12 5p13.3 / TERT 5p15.33NAA30 14q22.3 / TERT 5p15.33PDCD6 5p15.33 / TERT 5p15.33
SLC2A13 12q12 / TERT 5p15.33TTLL7 1p31.1 / TERT 5p15.33

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Thyroid: Anaplastic (undifferentiated) carcinoma
Kidney: Chromophobe renal cell carcinoma
Bone: Conventional Osteosarcoma
Head and Neck: Laryngeal tumors: an overview


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ]
  Dyskeratosis congenita (DKC) Familial melanoma Familial Myeloproliferative Disorders


External links

Nomenclature
HGNC (Hugo)TERT   11730
LRG (Locus Reference Genomic)LRG_343
Cards
Entrez_Gene (NCBI)TERT  7015  telomerase reverse transcriptase
AliasesCMM9; DKCA2; DKCB4; EST2; 
PFBMFT1; TCS1; TP2; TRT; hEST2; hTRT
GeneCards (Weizmann)TERT
Ensembl hg19 (Hinxton)ENSG00000164362 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164362 [Gene_View]  chr5:1253172-1295047 [Contig_View]  TERT [Vega]
ICGC DataPortalENSG00000164362
TCGA cBioPortalTERT
AceView (NCBI)TERT
Genatlas (Paris)TERT
WikiGenes7015
SOURCE (Princeton)TERT
Genetics Home Reference (NIH)TERT
Genomic and cartography
GoldenPath hg38 (UCSC)TERT  -     chr5:1253172-1295047 -  5p15.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TERT  -     5p15.33   [Description]    (hg19-Feb_2009)
EnsemblTERT - 5p15.33 [CytoView hg19]  TERT - 5p15.33 [CytoView hg38]
Mapping of homologs : NCBITERT [Mapview hg19]  TERT [Mapview hg38]
OMIM127550   178500   187270   609135   613989   614742   615134   
Gene and transcription
Genbank (Entrez)AB085628 AB086379 AB086950 AF015950 AF018167
RefSeq transcript (Entrez)NM_001193376 NM_198253 NM_198254 NM_198255
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TERT
Cluster EST : UnigeneHs.492203 [ NCBI ]
CGAP (NCI)Hs.492203
Alternative Splicing GalleryENSG00000164362
Gene ExpressionTERT [ NCBI-GEO ]   TERT [ EBI - ARRAY_EXPRESS ]   TERT [ SEEK ]   TERT [ MEM ]
Gene Expression Viewer (FireBrowse)TERT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7015
GTEX Portal (Tissue expression)TERT
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14746   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14746  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14746
Splice isoforms : SwissVarO14746
Catalytic activity : Enzyme2.7.7.49 [ Enzyme-Expasy ]   2.7.7.492.7.7.49 [ IntEnz-EBI ]   2.7.7.49 [ BRENDA ]   2.7.7.49 [ KEGG ]   
PhosPhoSitePlusO14746
Domaine pattern : Prosite (Expaxy)RT_POL (PS50878)   
Domains : Interpro (EBI)RT_dom    Telomerase_RBD    Telomerase_RT   
Domain families : Pfam (Sanger)RVT_1 (PF00078)    Telomerase_RBD (PF12009)   
Domain families : Pfam (NCBI)pfam00078    pfam12009   
Domain families : Smart (EMBL)Telomerase_RBD (SM00975)  
Conserved Domain (NCBI)TERT
DMDM Disease mutations7015
Blocks (Seattle)TERT
PDB (SRS)2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
PDB (PDBSum)2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
PDB (IMB)2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
PDB (RSDB)2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
Structural Biology KnowledgeBase2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
SCOP (Structural Classification of Proteins)2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
CATH (Classification of proteins structures)2BCK    4B18    4MNQ    5MEN    5MEP    5MEQ    5MER   
SuperfamilyO14746
Human Protein AtlasENSG00000164362
Peptide AtlasO14746
HPRD01754
IPIIPI00298218   IPI00384469   IPI00168908   IPI00963895   
Protein Interaction databases
DIP (DOE-UCLA)O14746
IntAct (EBI)O14746
FunCoupENSG00000164362
BioGRIDTERT
STRING (EMBL)TERT
ZODIACTERT
Ontologies - Pathways
QuickGOO14746
Ontology : AmiGOtRNA binding  telomerase catalytic core complex  telomerase catalytic core complex  telomerase catalytic core complex  telomere maintenance  chromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  transcription, RNA-templated  transcription coactivator binding  DNA binding  telomerase activity  telomerase activity  telomerase activity  telomerase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  RNA binding  RNA-directed DNA polymerase activity  RNA-directed DNA polymerase activity  RNA-directed 5'-3' RNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  telomerase holoenzyme complex  nucleolus  nucleolus  plasma membrane  RNA-dependent DNA biosynthetic process  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  mitochondrion organization  negative regulation of gene expression  PML body  nucleotidyltransferase activity  nucleotidyltransferase activity  DNA strand elongation  positive regulation of Wnt signaling pathway  production of siRNA involved in RNA interference  RNA-directed RNA polymerase complex  regulation of protein stability  regulation of protein stability  positive regulation of protein binding  RNA biosynthetic process  telomeric DNA binding  positive regulation of hair cycle  mitochondrial nucleoid  protein homodimerization activity  protein homodimerization activity  negative regulation of neuron apoptotic process  positive regulation of angiogenesis  positive regulation of glucose import  response to cadmium ion  metal ion binding  positive regulation of nitric-oxide synthase activity  chaperone binding  negative regulation of glial cell proliferation  telomerase RNA binding  telomerase RNA binding  establishment of protein localization to telomere  cellular response to hypoxia  DNA biosynthetic process  replicative senescence  template-free RNA nucleotidyltransferase  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  positive regulation of transdifferentiation  negative regulation of production of siRNA involved in RNA interference  positive regulation of vascular smooth muscle cell proliferation  positive regulation of protein localization to nucleolus  positive regulation of vascular associated smooth muscle cell migration  beta-catenin-TCF complex assembly  TERT-RMRP complex  negative regulation of endothelial cell apoptotic process  positive regulation of stem cell proliferation  negative regulation of cellular senescence  negative regulation of cellular senescence  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBItRNA binding  telomerase catalytic core complex  telomerase catalytic core complex  telomerase catalytic core complex  telomere maintenance  chromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  transcription, RNA-templated  transcription coactivator binding  DNA binding  telomerase activity  telomerase activity  telomerase activity  telomerase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  telomerase RNA reverse transcriptase activity  RNA binding  RNA-directed DNA polymerase activity  RNA-directed DNA polymerase activity  RNA-directed 5'-3' RNA polymerase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  telomerase holoenzyme complex  nucleolus  nucleolus  plasma membrane  RNA-dependent DNA biosynthetic process  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  telomere maintenance via telomerase  mitochondrion organization  negative regulation of gene expression  PML body  nucleotidyltransferase activity  nucleotidyltransferase activity  DNA strand elongation  positive regulation of Wnt signaling pathway  production of siRNA involved in RNA interference  RNA-directed RNA polymerase complex  regulation of protein stability  regulation of protein stability  positive regulation of protein binding  RNA biosynthetic process  telomeric DNA binding  positive regulation of hair cycle  mitochondrial nucleoid  protein homodimerization activity  protein homodimerization activity  negative regulation of neuron apoptotic process  positive regulation of angiogenesis  positive regulation of glucose import  response to cadmium ion  metal ion binding  positive regulation of nitric-oxide synthase activity  chaperone binding  negative regulation of glial cell proliferation  telomerase RNA binding  telomerase RNA binding  establishment of protein localization to telomere  cellular response to hypoxia  DNA biosynthetic process  replicative senescence  template-free RNA nucleotidyltransferase  positive regulation of G1/S transition of mitotic cell cycle  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  positive regulation of transdifferentiation  negative regulation of production of siRNA involved in RNA interference  positive regulation of vascular smooth muscle cell proliferation  positive regulation of protein localization to nucleolus  positive regulation of vascular associated smooth muscle cell migration  beta-catenin-TCF complex assembly  TERT-RMRP complex  negative regulation of endothelial cell apoptotic process  positive regulation of stem cell proliferation  negative regulation of cellular senescence  negative regulation of cellular senescence  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : BIOCARTARole of nicotinic acetylcholine receptors in the regulation of apoptosis [Genes]    Telomeres, Telomerase, Cellular Aging, and Immortality [Genes]   
Pathways : KEGGHTLV-I infection   
NDEx NetworkTERT
Atlas of Cancer Signalling NetworkTERT
Wikipedia pathwaysTERT
Orthology - Evolution
OrthoDB7015
GeneTree (enSembl)ENSG00000164362
Phylogenetic Trees/Animal Genes : TreeFamTERT
HOVERGENO14746
HOGENOMO14746
Homologs : HomoloGeneTERT
Homology/Alignments : Family Browser (UCSC)TERT
Gene fusions - Rearrangements
Fusion : MitelmanCCDC127/TERT [5p15.33/5p15.33]  [t(5;5)(p15;p15)]  
Fusion : MitelmanDROSHA/TERT [5p13.3/5p15.33]  [t(5;5)(p13;p15)]  
Fusion : MitelmanIGH/TERT [14q32.33/5p15.33]  [t(5;14)(p15;q32)]  
Fusion : MitelmanMTMR12/TERT [5p13.3/5p15.33]  [t(5;5)(p13;p15)]  
Fusion : MitelmanNAA30/TERT [14q22.3/5p15.33]  [t(5;14)(p15;q22)]  
Fusion : MitelmanPDCD6/TERT [5p15.33/5p15.33]  [t(5;5)(p15;p15)]  
Fusion : MitelmanSLC2A13/TERT [12q12/5p15.33]  [t(5;12)(p15;q12)]  
Fusion : MitelmanTTLL7/TERT [1p31.1/5p15.33]  [t(1;5)(p31;p15)]  
Fusion: TCGACCDC127 5p15.33 TERT 5p15.33 GBM
Fusion: TCGADROSHA 5p13.3 TERT 5p15.33 SKCM
Fusion: TCGAMTMR12 5p13.3 TERT 5p15.33 THCA
Fusion: TCGANAA30 14q22.3 TERT 5p15.33 GBM
Fusion: TCGAPDCD6 5p15.33 TERT 5p15.33 KIRC
Fusion: TCGASLC2A13 12q12 TERT 5p15.33 KIRC
Fusion: TCGATTLL7 1p31.1 TERT 5p15.33 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTERT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TERT
dbVarTERT
ClinVarTERT
1000_GenomesTERT 
Exome Variant ServerTERT
ExAC (Exome Aggregation Consortium)TERT (select the gene name)
Genetic variants : HAPMAP7015
Genomic Variants (DGV)TERT [DGVbeta]
DECIPHERTERT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTERT 
Mutations
ICGC Data PortalTERT 
TCGA Data PortalTERT 
Broad Tumor PortalTERT
OASIS PortalTERT [ Somatic mutations - Copy number]
Cancer Gene: CensusTERT 
Somatic Mutations in Cancer : COSMICTERT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTERT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch TERT
DgiDB (Drug Gene Interaction Database)TERT
DoCM (Curated mutations)TERT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TERT (select a term)
intoGenTERT
Cancer3DTERT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM127550    178500    187270    609135    613989    614742    615134   
Orphanet477    2949    3560    23715    7029    8751   
MedgenTERT
Genetic Testing Registry TERT
NextProtO14746 [Medical]
TSGene7015
GENETestsTERT
Huge Navigator TERT [HugePedia]
snp3D : Map Gene to Disease7015
BioCentury BCIQTERT
ClinGenTERT (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7015
Chemical/Pharm GKB GenePA36447
Clinical trialTERT
Miscellaneous
canSAR (ICR)TERT (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTERT
EVEXTERT
GoPubMedTERT
iHOPTERT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:40:42 CEST 2017

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