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TERT (telomerase reverse transcriptase)

Identity

Other namesCMM9
DKCA2
DKCB4
EST2
PFBMFT1
TCS1
TP2
TRT
hEST2
hTRT
HGNC (Hugo) TERT
LocusID (NCBI) 7015
Atlas_Id 439
Location 5p15.33
Location_base_pair Starts at 1253287 and ends at 1295162 bp from pter ( according to hg19-Feb_2009)

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)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhabID5004

External links

Nomenclature
HGNC (Hugo)TERT   11730
Cards
Entrez_Gene (NCBI)TERT  7015  telomerase reverse transcriptase
GeneCards (Weizmann)TERT
Ensembl hg19 (Hinxton)ENSG00000164362 [Gene_View]  chr5:1253287-1295162 [Contig_View]  TERT [Vega]
Ensembl hg38 (Hinxton)ENSG00000164362 [Gene_View]  chr5:1253287-1295162 [Contig_View]  TERT [Vega]
ICGC DataPortalENSG00000164362
TCGA cBioPortalTERT
AceView (NCBI)TERT
Genatlas (Paris)TERT
WikiGenes7015
SOURCE (Princeton)TERT
Genomic and cartography
GoldenPath hg19 (UCSC)TERT  -     chr5:1253287-1295162 -  5p15.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TERT  -     5p15.33   [Description]    (hg38-Dec_2013)
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)NC_000005 NC_018916 NG_009265 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)TERT
Cluster EST : UnigeneHs.492203 [ NCBI ]
CGAP (NCI)Hs.492203
Alternative Splicing : Fast-db (Paris)GSHG0024573
Alternative Splicing GalleryENSG00000164362
Gene ExpressionTERT [ NCBI-GEO ]     TERT [ SEEK ]   TERT [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14746 (Uniprot)
NextProtO14746  [Medical]
With graphics : InterProO14746
Splice isoforms : SwissVarO14746 (Swissvar)
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 ]   
Domaine pattern : Prosite (Expaxy)RT_POL (PS50878)   
Domains : Interpro (EBI)RT_dom    Telomerase_RBD    Telomerase_RT   
Related proteins : CluSTrO14746
Domain families : Pfam (Sanger)RVT_1 (PF00078)    Telomerase_RBD (PF12009)   
Domain families : Pfam (NCBI)pfam00078    pfam12009   
Domain families : Smart (EMBL)Telomerase_RBD (SM00975)  
DMDM Disease mutations7015
Blocks (Seattle)O14746
PDB (SRS)2BCK    4B18    4MNQ   
PDB (PDBSum)2BCK    4B18    4MNQ   
PDB (IMB)2BCK    4B18    4MNQ   
PDB (RSDB)2BCK    4B18    4MNQ   
Human Protein AtlasENSG00000164362
Peptide AtlasO14746
HPRD01754
IPIIPI00298218   IPI00384469   IPI00168908   IPI00963895   
Protein Interaction databases
DIP (DOE-UCLA)O14746
IntAct (EBI)O14746
FunCoupENSG00000164362
BioGRIDTERT
IntegromeDBTERT
STRING (EMBL)TERT
Ontologies - Pathways
QuickGOO14746
Ontology : AmiGOtRNA binding  telomerase catalytic core complex  telomerase catalytic core complex  telomerase catalytic core complex  telomerase catalytic core complex  telomere maintenance  chromosome, telomeric region  nuclear telomere cap complex  transcription, RNA-templated  transcription coactivator binding  DNA binding  telomerase activity  telomeric template RNA reverse transcriptase activity  telomeric template RNA reverse transcriptase activity  telomeric template RNA reverse transcriptase activity  telomeric template RNA reverse transcriptase activity  RNA binding  RNA-directed DNA polymerase activity  RNA-directed RNA polymerase activity  protein binding  nucleoplasm  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  nucleolus  RNA-dependent DNA replication  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  DNA strand elongation  positive regulation of Wnt signaling pathway  production of siRNA involved in RNA interference  RNA-directed RNA polymerase complex  RNA biosynthetic process  telomeric DNA binding  mitochondrial nucleoid  protein homodimerization activity  metal ion binding  positive regulation of nitric-oxide synthase activity  telomeric RNA binding  telomeric RNA binding  cellular response to hypoxia  DNA biosynthetic process  replicative senescence  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  negative regulation of production of siRNA involved in RNA interference  TERT-RMRP complex  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  telomerase catalytic core complex  telomere maintenance  chromosome, telomeric region  nuclear telomere cap complex  transcription, RNA-templated  transcription coactivator binding  DNA binding  telomerase activity  telomeric template RNA reverse transcriptase activity  telomeric template RNA reverse transcriptase activity  telomeric template RNA reverse transcriptase activity  telomeric template RNA reverse transcriptase activity  RNA binding  RNA-directed DNA polymerase activity  RNA-directed RNA polymerase activity  protein binding  nucleoplasm  nucleoplasm  telomerase holoenzyme complex  telomerase holoenzyme complex  nucleolus  RNA-dependent DNA replication  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  DNA strand elongation  positive regulation of Wnt signaling pathway  production of siRNA involved in RNA interference  RNA-directed RNA polymerase complex  RNA biosynthetic process  telomeric DNA binding  mitochondrial nucleoid  protein homodimerization activity  metal ion binding  positive regulation of nitric-oxide synthase activity  telomeric RNA binding  telomeric RNA binding  cellular response to hypoxia  DNA biosynthetic process  replicative senescence  positive regulation of pri-miRNA transcription from RNA polymerase II promoter  negative regulation of production of siRNA involved in RNA interference  TERT-RMRP complex  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   
Protein Interaction DatabaseTERT
DoCM (Curated mutations)TERT
Wikipedia pathwaysTERT
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerTERT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TERT
dbVarTERT
ClinVarTERT
1000_GenomesTERT 
Exome Variant ServerTERT
SNP (GeneSNP Utah)TERT
SNP : HGBaseTERT
Genetic variants : HAPMAPTERT
Genomic Variants (DGV)TERT [DGVbeta]
Mutations
ICGC Data PortalTERT 
TCGA Data PortalTERT 
Tumor PortalTERT
Cancer Gene: CensusTERT 
Somatic Mutations in Cancer : COSMICTERT 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:1253287-1295162
CONAN: Copy Number AnalysisTERT 
Mutations and Diseases : HGMDTERT
OMIM127550    178500    187270    609135    613989    614742    615134   
MedgenTERT
NextProtO14746 [Medical]
GENETestsTERT
Disease Genetic AssociationTERT
Huge Navigator TERT [HugePedia]  TERT [HugeCancerGEM]
snp3D : Map Gene to Disease7015
DGIdb (Drug Gene Interaction db)TERT
General knowledge
Homologs : HomoloGeneTERT
Homology/Alignments : Family Browser (UCSC)TERT
Phylogenetic Trees/Animal Genes : TreeFamTERT
Chemical/Protein Interactions : CTD7015
Chemical/Pharm GKB GenePA36447
Clinical trialTERT
Cancer Resource (Charite)ENSG00000164362
Other databases
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineTERT
GoPubMedTERT
iHOPTERT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 20:12:03 CEST 2015

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.