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Aliases for TERT Gene

Aliases for TERT Gene

  • Telomerase Reverse Transcriptase 2 3 5
  • Telomerase-Associated Protein 2 3 4
  • Telomerase Catalytic Subunit 3 4
  • EC 2.7.7.49 4 61
  • HEST2 3 4
  • TCS1 3 4
  • EST2 3 4
  • TP2 3 4
  • TRT 3 4
  • EC 2.7.7 61
  • PFBMFT1 3
  • DKCA2 3
  • DKCB4 3
  • CMM9 3
  • HTRT 3

External Ids for TERT Gene

Previous GeneCards Identifiers for TERT Gene

  • GC05P001643
  • GC05M001282
  • GC05M001306

Summaries for TERT Gene

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 Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 and Dyskeratosis Congenita, Autosomal Dominant 2. Among its related pathways are HTLV-I infection and Chromosome Maintenance. GO annotations related to this gene include protein homodimerization activity and tRNA binding.

UniProtKB/Swiss-Prot for TERT Gene

  • 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.

Tocris 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 repeat sequences of DNA (TTAGGG) to the end of chromosomes - multiple repeats of this are a 'telomere'.

Gene Wiki entry for TERT Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERT Gene

Genomics for TERT Gene

Regulatory Elements for TERT Gene

Enhancers for TERT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F001500 1.6 FANTOM5 Ensembl ENCODE 10.7 -208.5 -208548 6.2 HDGF HDAC1 PKNOX1 SIN3A FEZF1 SCRT2 ZNF143 ETV6 CREM ZNF263 LPCAT1 SLC6A3 TERT ZDHHC11B SLC12A7 GC05M001507
GH05F001512 1.6 FANTOM5 Ensembl ENCODE 10.2 -220.9 -220935 9.1 PKNOX1 ZFP64 INSM2 KLF17 SIN3A RAD21 GLIS2 ELK1 ZNF366 SCRT2 SLC6A3 TERT SLC6A18 LPCAT1 CTD-3080P12.3 SLC12A7 MIR6075
GH05F001151 1.3 FANTOM5 Ensembl ENCODE 10.9 +142.0 141957 2.6 PKNOX1 CDC5L EBF1 ZIC2 THRB ZKSCAN1 E2F1 GLIS2 ZFHX2 ZBTB48 CTD-3080P12.3 SLC6A19 ENSG00000250173 SLC6A18 TERT TRIP13 BRD9 SLC6A3 ZDHHC11 SLC12A7
GH05F001312 1.6 FANTOM5 Ensembl ENCODE 7.3 -19.9 -19884 5.6 PKNOX1 SIN3A DMAP1 YY1 GLIS2 ZNF143 ZNF207 KLF7 KDM4B SP5 SLC6A3 LOC100132773 SLC6A18 TERT GC05M001307 GC05P001335
GH05F001385 0.9 ENCODE 11.5 -91.3 -91287 2.0 TBP ATF1 PKNOX1 KLF17 SIN3A RAD21 ZNF335 GLIS2 SCRT2 KLF7 SLC6A3 TERT ENSG00000279908 LINC01511
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TERT on UCSC Golden Path with GeneCards custom track

Promoters for TERT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001866603 69 801 MXI1 SAP130 MAX ARID4B SIN3A ZIC2 ZFHX2 EGR1 POLR2A MAZ

Genomic Location for TERT Gene

Chromosome:
5
Start:
1,253,147 bp from pter
End:
1,295,069 bp from pter
Size:
41,923 bases
Orientation:
Minus strand

Genomic View for TERT Gene

Genes around TERT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TERT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TERT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TERT Gene

Proteins for TERT Gene

  • Protein details for TERT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14746-TERT_HUMAN
    Recommended name:
    Telomerase reverse transcriptase
    Protein Accession:
    O14746
    Secondary Accessions:
    • O14783
    • Q2XS35
    • Q8N6C3
    • Q8NG38
    • Q8NG46

    Protein attributes for TERT Gene

    Size:
    1132 amino acids
    Molecular mass:
    126997 Da
    Quaternary structure:
    • 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). Interacts with isoform 1 and isoform 2 of NVL (PubMed:22226966).

    Three dimensional structures from OCA and Proteopedia for TERT Gene

    Alternative splice isoforms for TERT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TERT Gene

Selected DME Specific Peptides for TERT Gene

O14746:
  • SVRSYLPNTV
  • LFPWCGLLLDTRTLEV
  • LFLDLQVN
  • LRELSEAE
  • LVAQCLVC
  • RYWQMRPLF
  • VDDFLLVTPHL

Post-translational modifications for TERT Gene

  • 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 degradation.
  • 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 degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TERT Gene

Domains & Families for TERT Gene

Protein Domains for TERT Gene

Graphical View of Domain Structure for InterPro Entry

O14746

UniProtKB/Swiss-Prot:

TERT_HUMAN :
  • The primer grip sequence in the RT domain is required for telomerase activity and for stable association with short telomeric primers.
  • Belongs to the reverse transcriptase family. Telomerase subfamily.
Domain:
  • The primer grip sequence in the RT domain is required for telomerase activity and for stable association with short telomeric primers.
  • 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.
  • The RNA-interacting domain 2 (RD2) is essential for both interaction with the CR4-CR5 domain of TERC and for DNA synthesis.
  • Contains 1 reverse transcriptase domain.
Family:
  • Belongs to the reverse transcriptase family. Telomerase subfamily.
genes like me logo Genes that share domains with TERT: view

No data available for Gene Families for TERT Gene

Function for TERT Gene

Molecular function for TERT Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TERT Gene

Gene Ontology (GO) - Molecular Function for TERT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IDA 21937513
GO:0001223 transcription coactivator binding IPI 19571879
GO:0003677 DNA binding IEA,IDA 21937513
GO:0003720 telomerase activity IDA,TAS --
GO:0003721 telomerase RNA reverse transcriptase activity IMP,TAS 14991929
genes like me logo Genes that share ontologies with TERT: view
genes like me logo Genes that share phenotypes with TERT: view

Human Phenotype Ontology for TERT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TERT Gene

MGI Knock Outs for TERT:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for TERT Gene

Localization for TERT Gene

Subcellular locations from UniProtKB/Swiss-Prot for TERT Gene

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TERT gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 3
extracellular 2
cytoskeleton 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TERT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000333 telomerase catalytic core complex IPI 19701182
GO:0000781 chromosome, telomeric region IEA,IC 12135483
GO:0000783 nuclear telomere cap complex IC 15632080
GO:0000784 nuclear chromosome, telomeric region IDA 25589350
GO:0005634 nucleus IEA,IDA 21829167
genes like me logo Genes that share ontologies with TERT: view

Pathways & Interactions for TERT Gene

genes like me logo Genes that share pathways with TERT: view

SIGNOR curated interactions for TERT Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TERT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS 12135483
GO:0001172 transcription, RNA-templated IDA 19701182
GO:0006278 RNA-dependent DNA biosynthetic process IDA 9398860
GO:0007004 telomere maintenance via telomerase NAS,TAS --
GO:0007005 mitochondrion organization IDA 21937513
genes like me logo Genes that share ontologies with TERT: view

Drugs & Compounds for TERT Gene

(41) Drugs for TERT Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zidovudine Approved Pharma Target, inhibitor 494
Dacarbazine Approved, Investigational Pharma 674
Temozolomide Approved, Investigational Pharma Alkylating Agents 693
Efavirenz Approved, Investigational Pharma Reverse transcriptase inhibitor 405
Rilpivirine Approved Pharma Inhibitor of next-generation nonnucleoside reverse transcriptase 87

(26) Additional Compounds for TERT Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
RHPS 4 methosulfate
390362-78-4

(4) Tocris Compounds for TERT Gene

Compound Action Cas Number
BIBR 1532 Selective telomerase inhibitor 321674-73-1
Costunolide Inhibitor of human telomerase activity 553-21-9
RHPS 4 methosulfate Telomerase inhibitor 390362-78-4
TMPyP4 tosylate Inhibitor of human telomerase 36951-72-1

(5) ApexBio Compounds for TERT Gene

Compound Action Cas Number
BIBR 1532 Telomerase inhibitor,novel and selective 321674-73-1
Costunolide BMM differentiation inhibitor 553-21-9
Efavirenz Reverse transcriptase inhibitor 154598-52-4
Rilpivirine Inhibitor of next-generation nonnucleoside reverse transcriptase 500287-72-9
TMPyP4 tosylate 36951-72-1
genes like me logo Genes that share compounds with TERT: view

Drug Products

Transcripts for TERT Gene

Unigene Clusters for TERT Gene

Telomerase reverse transcriptase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TERT Gene

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: - -

Relevant External Links for TERT Gene

GeneLoc Exon Structure for
TERT
ECgene alternative splicing isoforms for
TERT

Expression for TERT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TERT Gene

mRNA differential expression in normal tissues according to GTEx for TERT Gene

This gene is overexpressed in Testis (x11.4), Colon - Transverse (x5.6), Brain - Nucleus accumbens (basal ganglia) (x5.1), Brain - Caudate (basal ganglia) (x4.9), and Small Intestine - Terminal Ileum (x4.6).

Protein differential expression in normal tissues from HIPED for TERT Gene

This gene is overexpressed in Heart (43.7) and Saliva (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TERT Gene



NURSA nuclear receptor signaling pathways regulating expression of TERT Gene:

TERT

SOURCE GeneReport for Unigene cluster for TERT Gene:

Hs.492203

mRNA Expression by UniProt/SwissProt for TERT Gene:

O14746-TERT_HUMAN
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.
genes like me logo Genes that share expression patterns with TERT: view

Primer Products

No data available for Protein tissue co-expression partners for TERT Gene

Orthologs for TERT Gene

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

Orthologs for TERT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TERT 34 35
  • 98 (n)
dog
(Canis familiaris)
Mammalia TERT 34 35
  • 77.73 (n)
cow
(Bos Taurus)
Mammalia TERT 34 35
  • 77.71 (n)
mouse
(Mus musculus)
Mammalia Tert 34 16 35
  • 70.94 (n)
rat
(Rattus norvegicus)
Mammalia Tert 34
  • 70.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TERT 35
  • 53 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TERT 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves TERT 34 35
  • 59.06 (n)
lizard
(Anolis carolinensis)
Reptilia TERT 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tert 34
  • 53.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia tert-A 34
zebrafish
(Danio rerio)
Actinopterygii tert 34 35
  • 50.65 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EST2 35 37
  • 22 (a)
OneToOne
Species where no ortholog for TERT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TERT Gene

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

Paralogs for TERT Gene

(1) SIMAP similar genes for TERT Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with TERT: view

No data available for Paralogs for TERT Gene

Variants for TERT Gene

Sequence variations from dbSNP and Humsavar for TERT Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121918661 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742], Pathogenic 1,294,282(-) AACGG(A/G)CCTGG reference, missense
rs121918662 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742], Pathogenic 1,279,341(-) CCTTC(A/G)TGCTG reference, missense
rs121918663 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742], Pathogenic 1,272,252(-) GCCGT(A/G)CATGC reference, missense
rs121918664 Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) [MIM:614742], Pathogenic 1,254,395(-) CCTAC(A/G)TGCCA reference, missense
rs121918665 Dyskeratosis congenita, autosomal dominant, 2 (DKCA2) [MIM:613989], Pathogenic 1,264,541(-) CGGAA(C/G)ACAGT intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TERT Gene

Variant ID Type Subtype PubMed ID
dgv3021n106 CNV deletion 24896259
dgv3197e59 CNV duplication 20981092
dgv917e201 CNV deletion 23290073
esv1011324 CNV insertion 20482838
esv1110943 CNV deletion 17803354
esv1162125 CNV deletion 17803354
esv1351946 CNV deletion 17803354
esv1454284 CNV deletion 17803354
esv2214498 CNV deletion 18987734
esv2662541 CNV deletion 23128226
esv26968 CNV loss 19812545
esv26971 CNV loss 19812545
esv2729455 CNV deletion 23290073
esv2729456 CNV deletion 23290073
esv2729457 CNV deletion 23290073
esv2729458 CNV deletion 23290073
esv2729460 CNV deletion 23290073
esv2729463 CNV deletion 23290073
esv2729464 CNV deletion 23290073
esv2729465 CNV deletion 23290073
esv2729466 CNV deletion 23290073
esv2729467 CNV deletion 23290073
esv2729468 CNV deletion 23290073
esv2729469 CNV deletion 23290073
esv2729470 CNV deletion 23290073
esv2729471 CNV deletion 23290073
esv2729475 CNV deletion 23290073
esv2729476 CNV deletion 23290073
esv2742056 CNV deletion 23290073
esv2742530 CNV deletion 23290073
esv3432543 CNV duplication 20981092
esv3569908 CNV loss 25503493
esv3575810 CNV gain 25503493
esv3603797 CNV gain 21293372
esv4559 CNV loss 18987735
nsv1024507 CNV gain 25217958
nsv1073843 CNV deletion 25765185
nsv1074798 CNV deletion 25765185
nsv1119022 CNV deletion 24896259
nsv1133013 OTHER inversion 24896259
nsv1136959 CNV deletion 24896259
nsv1143306 CNV deletion 24896259
nsv1147234 OTHER inversion 26484159
nsv1147255 CNV deletion 26484159
nsv509044 CNV insertion 20534489
nsv509045 CNV insertion 20534489
nsv510895 OTHER complex 20534489
nsv596629 CNV gain 21841781
nsv822959 CNV loss 20364138
nsv822960 CNV gain 20364138
nsv950627 CNV deletion 24416366

Variation tolerance for TERT Gene

Residual Variation Intolerance Score: 17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TERT Gene

Human Gene Mutation Database (HGMD)
TERT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TERT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERT Gene

Disorders for TERT Gene

MalaCards: The human disease database

(62) MalaCards diseases for TERT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
  • pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1
dyskeratosis congenita, autosomal dominant 2
  • dyskeratosis congenita, autosomal recessive 4
melanoma, cutaneous malignant, 9
  • cmm9
dyskeratosis congenita, autosomal dominant 1
dyskeratosis congenita, autosomal recessive 1
  • dyskeratosis congenita, autosomal recessive, 1
- elite association - COSMIC cancer census association via MalaCards
Search TERT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TERT_HUMAN
  • 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. {ECO:0000269 PubMed:15885610, ECO:0000269 PubMed:16627250, ECO:0000269 PubMed:16990594, ECO:0000269 PubMed:19760749}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:15885610, ECO:0000269 PubMed:16247010}. 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. {ECO:0000269 PubMed:16332973, ECO:0000269 PubMed:17785587, ECO:0000269 PubMed:18042801}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:23348503}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=Activation of telomerase has been implicated in cell immortalization and cancer cell pathogenesis.
  • Note=Genetic variations in TERT are associated with coronary artery disease (CAD).
  • 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. {ECO:0000269 PubMed:15814878, ECO:0000269 PubMed:17460043, ECO:0000269 PubMed:21436073, ECO:0000269 PubMed:21483807, ECO:0000269 PubMed:22512499}. 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.

Relevant External Links for TERT

Genetic Association Database (GAD)
TERT
Human Genome Epidemiology (HuGE) Navigator
TERT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TERT
genes like me logo Genes that share disorders with TERT: view

No data available for Genatlas for TERT Gene

Publications for TERT Gene

  1. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. (PMID: 19147845) Calado R.T. … Young N.S. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 22 46 64
  2. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PMID: 15814878) Yamaguchi H. … Young N.S. (N. Engl. J. Med. 2005) 3 4 22 46 64
  3. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (PMID: 18931339) Du H.Y. … Bessler M. (Blood 2009) 3 22 46 64
  4. PML-IV functions as a negative regulator of telomerase by interacting with TERT. (PMID: 19567472) Oh W. … Song J. (J. Cell Sci. 2009) 3 4 22 64
  5. Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase. (PMID: 18829466) Jakob S. … Haendeler J. (J. Biol. Chem. 2008) 3 4 22 64

Products for TERT Gene

  • Addgene plasmids for TERT

Sources for TERT Gene

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