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 Dyskeratosis Congenita, Autosomal Dominant 2 and Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1. Among its related pathways are PI3K-Akt signaling pathway and Regulation of Telomerase. Gene Ontology (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'.
Additional gene information for TERT Gene
- Monarch Initiative
- Search for TERT at DataMed
- Search for TERT at HumanCyc
No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TERT Gene
Genomics for TERT Gene
GeneHancer (GH) Regulatory Elements for TERT Gene
Regulatory Element Products
Genomic Locations for TERT Gene
- chr5:1,253,147-1,295,069
- (GRCh38/hg38)
- Size:
- 41,923 bases
- Orientation:
- Minus strand
- chr5:1,253,262-1,295,184
- (GRCh37/hg19)
Genomic View for TERT Gene
- Cytogenetic band:
-
- 5p15.33 by Ensembl
- 5p15.33 by Entrez Gene
- 5p15.33 by HGNC


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).
Three dimensional structures from OCA and Proteopedia for TERT Gene
Protein Expression 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.
Other Protein References for TERT Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TERT
- Novus Biologicals Antibodies for TERT
-
Abcam antibodies for TERT
-
Cloud-Clone Corp. Antibodies for TERT
- Invitrogen Antibodies for TERT
- antibodies-online: Search results for 265 available TERT Antibodies ranked by validation data
- Compare Top TERT Antibodies
-
Recommended
- 6 IHC (p) Antibodies (anti-rat)
- 19 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 1 IF Antibody (anti-mouse)
- 3 FACS Antibodies (anti-mouse)
- 6 IHC (p) Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 40 WB Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-human)
- 2 EIA Antibodies (anti-human)
- 3 FACS Antibodies (anti-human)
- 4 DB Antibodies (anti-human)
- 6 IHC (p) Antibodies (anti-human)
- 9 IF Antibodies (anti-human)
- 36 IF (p) Antibodies (anti-human)
- 128 WB Antibodies (anti-human)
- 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
- Search GeneTex for Proteins for TERT
-
Abcam proteins for TERT
Assay Products
-
Cloud-Clone Corp. Assay Kits for TERT
Domains & Families for TERT Gene
Gene Families for TERT Gene
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
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.
- Family:
-
- Belongs to the reverse transcriptase family. Telomerase subfamily.
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
Phenotypes From GWAS Catalog 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 | IDA | 21937513 |
GO:0003720 | contributes_to telomerase activity | TAS | 23474713 |
GO:0003721 | telomerase RNA reverse transcriptase activity | TAS | 14991929 |
Phenotypes for TERT Gene
- MGI mutant phenotypes for TERT:
-
inferred from 9 alleles
- nervous system phenotype
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- growth/size/body region phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hematopoietic 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
- genomics-online: gRNA clones - Search results for 64 available TERT gene related products
- Overview of 64 available TERT gene related products
- Applied Biological Materials CRISPR for TERT
-
Vectors and viruses for KO, Activation, Repression, and more
-
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)
- hsa-mir-532-5p (MIRT731988)
- hsa-mir-3064-5p (MIRT731989)
- hsa-mir-422a (MIRT733379)
- hsa-mir-346 (MIRT735456)
- hsa-mir-1226-3p (MIRT761373)
- hsa-mir-1255a (MIRT761653)
- hsa-mir-1255b-5p (MIRT761662)
- hsa-mir-143-3p (MIRT762657)
- hsa-mir-3161 (MIRT765162)
- hsa-mir-3605-5p (MIRT765846)
- hsa-mir-3620-3p (MIRT766111)
- hsa-mir-3682-3p (MIRT766764)
- hsa-mir-4323 (MIRT768608)
- hsa-mir-4712-3p (MIRT771396)
- hsa-mir-4733-3p (MIRT771794)
- hsa-mir-4758-3p (MIRT771993)
- hsa-mir-4770 (MIRT772191)
- hsa-mir-6088 (MIRT775727)
- hsa-mir-7112-3p (MIRT781450)
miRNA Products
- Search ViGene Biosciences for TERT
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for TERT
- Browse OriGene Inhibitory RNA Products For TERT
- genomics-online: shRNA clones - Search results for 64 available TERT gene related products
- Overview of 64 available TERT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TERT gene
Clone Products
-
OriGene ORF clones in human for TERT
- RG217436
- RC403784
- RC403783
- RC403782
- RC403781
- RC403780
- RC403779
- RC403778
- RC403777
- RC403776
- RC403775
- RC403774
- RC403773
- RC403772
- RC403771
- RC403770
- RC403769
- RC403768
- RC403767
- RC403766
- RC403765
- RC403764
- RC403763
- RC403762
- RC403761
- RC403760
- RC403759
- RC403758
- RC403757
- RC403756
- RC403755
- RC217436L2
- RC217436L1
- RC217436
- RG231464
- RC231464L2
- RC231464L1
- RC231464
- RC217436L2V
- RC217436L1V
- RC231464L2V
- RC231464L1V
- 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
- Applied Biological Materials Clones for TERT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TERT
-
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
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.
- Nucleoplasm (4)
- Cytosol (3)
- Nuclear speckles (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000333 | telomerase catalytic core complex | IPI | 19701182 |
GO:0000781 | chromosome, telomeric region | IC,IEA | 12135483 |
GO:0000783 | nuclear telomere cap complex | IC | 15632080 |
GO:0000784 | nuclear chromosome, telomeric region | IDA | 25589350 |
GO:0005634 | nucleus | IDA,IEA | 21829167 |
Pathways & Interactions for TERT Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gastric cancer |
.62
|
|
2 | Chromosome Maintenance | ||
3 | Telomere C-strand (Lagging Strand) Synthesis | ||
4 | Signaling by Wnt |
.71
|
|
5 | HTLV-I infection |
Pathways by source for TERT Gene
7 BioSystems pathways for TERT Gene
9 Reactome pathways for TERT Gene
5 KEGG pathways for TERT Gene
1 R&D Systems pathway for TERT Gene
3 Qiagen pathways for TERT Gene
Interacting Proteins for TERT Gene
SIGNOR curated interactions 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 | TAS | -- |
GO:0007005 | mitochondrion organization | IDA | 21937513 |
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 | 497 | ||
Dacarbazine | Approved, Investigational | Pharma | 719 | |||
Temozolomide | Approved, Investigational | Pharma | 758 | |||
Efavirenz | Approved, Investigational | Pharma | Reverse transcriptase inhibitor | 420 | ||
Rilpivirine | Approved | Pharma | Inhibitor of next-generation nonnucleoside reverse transcriptase | 93 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
(3) Tocris Compounds for TERT Gene
Compound | Action | Cas Number |
---|---|---|
BIBR 1532 | Selective telomerase inhibitor | 321674-73-1 |
BRACO 19 trihydrochloride | Telomerase inhibitor | 1177798-88-7 |
Costunolide | Inhibitor of human telomerase activity | 553-21-9 |
(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 |
Transcripts for TERT Gene
mRNA/cDNA for TERT Gene
- (5) 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
- genomics-online: gRNA clones - Search results for 64 available TERT gene related products
- Overview of 64 available TERT gene related products
- Applied Biological Materials CRISPR for TERT
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TERT
- GenScript: Design CRISPR guide RNA sequences for TERT
miRNA Products
- Search ViGene Biosciences for TERT
Inhibitory RNA Products
- Origene RNAi and shrna products in human, mouse, rat for TERT
- Browse OriGene Inhibitory RNA Products For TERT
- genomics-online: shRNA clones - Search results for 64 available TERT gene related products
- Overview of 64 available TERT gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for TERT gene
Clone Products
-
OriGene ORF clones in human for TERT
- RG217436
- RC403784
- RC403783
- RC403782
- RC403781
- RC403780
- RC403779
- RC403778
- RC403777
- RC403776
- RC403775
- RC403774
- RC403773
- RC403772
- RC403771
- RC403770
- RC403769
- RC403768
- RC403767
- RC403766
- RC403765
- RC403764
- RC403763
- RC403762
- RC403761
- RC403760
- RC403759
- RC403758
- RC403757
- RC403756
- RC403755
- RC217436L2
- RC217436L1
- RC217436
- RG231464
- RC231464L2
- RC231464L1
- RC231464
- RC217436L2V
- RC217436L1V
- RC231464L2V
- RC231464L1V
- 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
- Applied Biological Materials Clones for TERT
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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:
TERTSOURCE GeneReport for Unigene cluster for TERT Gene:
Hs.492203mRNA Expression by UniProt/SwissProt for TERT Gene:
O14746-TERT_HUMANEvidence on tissue expression from TISSUES for TERT Gene
- Blood(2.6)
- Lung(2.5)
- Liver(2.4)
- Skin(2.3)
- Nervous system(2.3)
- Intestine(2.2)
- Bone marrow(2.1)
- Lymph node(2.1)
- Muscle(2.1)
- Thyroid gland(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TERT Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- lacrimal apparatus
- mandible
- maxilla
- mouth
- neck
- pharynx
- salivary gland
- scalp
- skull
- tooth
- breast
- bronchus
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
- anus
- ovary
- pelvis
- penis
- rectum
- testicle
- urethra
- urinary bladder
- uterus
- vagina
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- sweat gland
- vertebrae
- white blood cell
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 |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TERT 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | TERT 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | TERT 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Tert 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Tert 33 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | TERT 34 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | TERT 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | TERT 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | TERT 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | tert 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | tert-A 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | tert 33 34 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EST2 34 36 |
|
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)
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 | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10069690 | association, Chronic osteomyelitis | 1,279,675(-) | C/T | intron_variant | |
rs1026167666 | uncertain-significance, Dyskeratosis congenita, autosomal dominant, 2, Idiopathic fibrosing alveolitis, chronic form | 1,279,340(-) | A/G/T | coding_sequence_variant, missense_variant | |
rs1030149805 | likely-benign, Dyskeratosis congenita, autosomal dominant, 2, Idiopathic fibrosing alveolitis, chronic form | 1,278,800(-) | T/C/G | intron_variant | |
rs1033959815 | uncertain-significance, Dyskeratosis congenita, autosomal dominant, 2, Idiopathic fibrosing alveolitis, chronic form | 1,294,963(-) | G/A/C/T | coding_sequence_variant, missense_variant, synonymous_variant | |
rs1042447238 | uncertain-significance, Dyskeratosis congenita, autosomal dominant, 2, Idiopathic fibrosing alveolitis, chronic form | 1,253,823(-) | G/C/T | coding_sequence_variant, missense_variant |
Additional Variant Information for TERT Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TERT Gene
Disorders for TERT Gene

(62) MalaCards diseases for TERT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
dyskeratosis congenita, autosomal dominant 2 |
|
|
pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 |
|
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melanoma, cutaneous malignant 9 |
|
|
aplastic anemia |
|
|
dyskeratosis congenita autosomal dominant |
|
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.
Additional Disease Information for TERT
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TERT Gene
Publications for TERT Gene
- Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. (PMID: 19147845) Calado RT … Young NS (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 44 58
- Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PMID: 15814878) Yamaguchi H … Young NS (The New England journal of medicine 2005) 3 4 22 44 58
- TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (PMID: 18931339) Du HY … Bessler M (Blood 2009) 3 22 44 58
- PML-IV functions as a negative regulator of telomerase by interacting with TERT. (PMID: 19567472) Oh W … Song J (Journal of cell science 2009) 3 4 22 58
- Nuclear protein tyrosine phosphatase Shp-2 is one important negative regulator of nuclear export of telomerase reverse transcriptase. (PMID: 18829466) Jakob S … Haendeler J (The Journal of biological chemistry 2008) 3 4 22 58
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- 40 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
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- 24 IF (p) Antibodies (anti-rat)
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Sources for TERT Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
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- (155) genomics-online
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