Aliases for TERT Gene
Aliases for TERT Gene
External Ids for TERT Gene
- HGNC: 11730
- Entrez Gene: 7015
- Ensembl: ENSG00000164362
- OMIM: 187270
- UniProtKB: O14746
Previous GeneCards Identifiers for TERT Gene
- GC05P001643
- GC05M001282
- GC05M001306
Summaries 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 Id Signaling Pathway. 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.
-
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'.
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 | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
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 |
|---|
ENSRs around TERT on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the TERT gene promoter:
Regulatory Element Products
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:
-
- 5p15.33 by Ensembl
- 5p15.33 by Entrez Gene
- 5p15.33 by HGNC
TERT Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for TERT Gene
Selected DME Specific Peptides for TERT Gene
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
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore top TERT Antibody
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for TERT
- Novus Biologicals Antibodies for TERT
-
Cloud-Clone Corp. Antibodies for TERT
- Invitrogen Antibodies for TERT
- antibodies-online Antibodies for TERT: See all 237
- GeneTex TERT antibody for TERT
-
Santa Cruz Biotechnology (SCBT) Antibodies for TERT
Protein Products
-
OriGene Purified Proteins for TERT
- Search Origene for MassSpec and Protein Over-expression Lysates for TERT
- Origene Custom Protein Services for TERT
-
Cloud-Clone Corp. Proteins for TERT
- antibodies-online Proteins for TERT: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for TERT
Domains & Families for TERT Gene
Protein Domains for TERT Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for TERT Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O14746UniProtKB/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.
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
- EC 2.7.7.49 63 4
- EC 2.7.7 63
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | IPI | 19701182 |
Phenotypes for TERT Gene
- MGI mutant phenotypes for TERT:
-
inferred from 8 alleles
- cellular phenotype
- mortality/aging
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- normal phenotype
- immune system phenotype
- growth/size/body region phenotype
- hematopoietic system phenotype
- tumorigenesis
- homeostasis/metabolism phenotype
- digestive/alimentary phenotype
- nervous system phenotype
- skeleton phenotype
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for TERT:
Animal Models for TERT Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for TERT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TERT gene
- Search ViGene Biosciences for TERT
CRISPR Products
-
OriGene CRISPR knockouts for TERT
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERT
- GenScript: Design CRISPR guide RNA sequences for TERT
miRNA for TERT Gene
- miRTarBase miRNAs that target TERT
-
- hsa-mir-138-5p (MIRT003991)
- hsa-mir-498 (MIRT006931)
- hsa-mir-193b-3p (MIRT016371)
- hsa-mir-335-5p (MIRT017613)
- hsa-mir-512-5p (MIRT053426)
- hsa-mir-1207-5p (MIRT053597)
- hsa-mir-1266-5p (MIRT053598)
- hsa-mir-1182 (MIRT054279)
- hsa-mir-181a-5p (MIRT437924)
- hsa-mir-6776-3p (MIRT530931)
- hsa-mir-197-3p (MIRT530932)
- hsa-mir-6740-3p (MIRT530933)
- hsa-mir-6760-3p (MIRT530934)
miRNA Products
- Search ViGene Biosciences for TERT
Clone Products
- OriGene clones in human for TERT
- OriGene ORF clones in human,mouse,rat for TERT
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TERT
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for TERT gene
-
ViGene Biosciences lentiviral particle packaged cDNA for TERT gene
-
ViGene Biosciences ready-to-package AAV shRNAs for TERT gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-11742) for TERT
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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| cytoskeleton | 2 |
| cytosol | 2 |
| extracellular | 2 |
| golgi apparatus | 1 |
| lysosome | 1 |
| peroxisome | 1 |
| plasma membrane | 1 |
| vacuole | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016605 | colocalizes_with PML body | IDA | 19567472 |
Pathways & Interactions for TERT Gene
More details on SuperPathways for TERTPathways by source for TERT Gene
6 BioSystems pathways for TERT Gene
9 Reactome pathways for TERT Gene
1 KEGG pathway for TERT Gene
1 R&D Systems pathway for TERT Gene
3 Qiagen pathways for TERT Gene
Interacting Proteins for TERT Gene
Selected Interacting proteins:
O14746-TERT_HUMAN
ENSP00000309572
for TERT Gene via
MINT
STRING
UniProtKB
I2D
SIGNOR curated interactions for TERT Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000723 | telomere maintenance | TAS | 12135483 |
| GO:0010629 | negative regulation of gene expression | IDA | 11927518 |
| GO:0030177 | positive regulation of Wnt signaling pathway | IGI | 19571879 |
| GO:0030422 | production of siRNA involved in RNA interference | IDA | 19701182 |
| GO:0031647 | regulation of protein stability | IMP | 26194824 |
Drugs & Compounds for TERT Gene
(38) 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 | 495 | ||
| Dacarbazine | Approved, Investigational | Pharma | 648 | |||
| Temozolomide | Approved, Investigational | Pharma | 670 | |||
| Efavirenz | Approved, Investigational | Pharma | Reverse transcriptase inhibitor | 404 | ||
| Rilpivirine | Approved | Pharma | Inhibitor of next-generation nonnucleoside reverse transcriptase | 82 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| phosphoric acid |
|
7664-38-2 |
|
|||
| TMPyP4 tosylate |
|
36951-72-1 |
|
|
(3) 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 |
| TMPyP4 tosylate | Inhibitor of human telomerase | 36951-72-1 |
(4) 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 |
Transcripts for TERT Gene
mRNA/cDNA for TERT Gene
- (7) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (29) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for TERT Gene
CRISPR Products
-
OriGene CRISPR knockouts for TERT
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERT
- GenScript: Design CRISPR guide RNA sequences for TERT
miRNA Products
- Search ViGene Biosciences for TERT
Clone Products
- OriGene clones in human for TERT
- OriGene ORF clones in human,mouse,rat for TERT
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for TERT
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-11742) for TERT
| 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: | - | - |
Expression for TERT Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- Ovary (Reproductive System)
- Brain (Nervous System)
- Bone (Muscoskeletal System)
- Mesenchymal Stem Cells (Uncategorized)
- Placenta (Extraembryonic Tissues)
- Uterus (Reproductive System)
- NULL (Nervous System)
- Neurons
- Heart (Cardiovascular System)
- Germ Cells (Reproductive System)
- Gonad
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).
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
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.
Primer Products
-
OriGene qPCR primer pairs for TERT
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | TERT 35 |
|
||
| TERT 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | TERT 35 |
|
||
| TERT 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Tert 35 |
|
||
| Tert 16 |
|
||||
| Tert 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | TERT 35 |
|
||
| TERT 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Tert 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | TERT 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TERT 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TERT 35 |
|
||
| TERT 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | TERT 36 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tert 35 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | tert-A 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tert 35 |
|
||
| tert 36 |
|
OneToOne | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EST2 36 |
|
OneToOne | |
| EST2 38 |
|
|
- Species with no ortholog for TERT:
-
- 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)
Paralogs for TERT Gene
(1) SIMAP similar genes for TERT Gene using alignment to 7 proteins:
No data available for Paralogs for TERT Gene
Variants for TERT Gene
| SNP ID | Clin | Chr 05 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs34094720 | Dyskeratosis congenita, autosomal recessive, 4 (DKCB4), Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) | 1,293,652(-) | AGACG(C/T)ACTGC | reference, missense | |
| VAR_025150 | - | ||||
| VAR_036863 | Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) | ||||
| rs61748181 | - | 1,294,051(+) | TTCGG(C/T)GGGTC | reference, missense | |
| VAR_036866 | Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1) |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERT Gene
Disorders for TERT Gene
(52) 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 |
|
|
| dyskeratosis congenita, autosomal dominant 2 |
|
|
| melanoma, cutaneous malignant, 9 |
|
|
| dyskeratosis congenita autosomal dominant |
|
|
| dyskeratosis congenita, autosomal recessive 1 |
|
|
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
No data available for Genatlas for TERT Gene
Publications for TERT Gene
- 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 23 48 67
- Hepatitis C virus core protein enhances Telomerase activity in Huh7 cells. (PMID: 20029802) Zhu Z. … Schmidt W.N. (J. Med. Virol. 2010) 3 23
- Variation at the TERT locus and predisposition for cancer. (PMID: 20478107) Baird D.M. (Expert Rev Mol Med 2010) 3 23
- Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. (PMID: 20502709) Diaz de Leon A. … Garcia C.K. (PLoS ONE 2010) 3 23
- Differential regulation of human and mouse telomerase reverse transcriptase (TERT) promoter activity during testis development. (PMID: 18729084) Weise J.M. … GA1neA9 C. (Mol. Reprod. Dev. 2009) 3 23
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