Human Gene TERT (uc003jce.1)
  Description: Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 2, mRNA.
RefSeq Summary (NM_001193376): 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].
Transcript (Including UTRs)
   Position: hg19 chr5:1,253,287-1,295,162 Size: 41,876 Total Exon Count: 13 Strand: -


Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:1,253,287-1,295,162)mRNA (may differ from genome)No protein
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerHGNCLynxMalacards
PubMedTreefamWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TERT
CDC HuGE Published Literature: TERT
Positive Disease Associations: aplastic anaemia , Erythrocyte Count , glioma , Idiopathic pulmonary fibrosis , lung adenocarcinoma , lung cancer , Lung Neoplasms , Pancreatic Neoplasms , Prostatic Neoplasms , Testicular Neoplasms
Related Studies:
  1. aplastic anaemia
    Vulliamy T et al. 2002, Association between aplastic anaemia and mutations in telomerase RNA., Lancet. 2002 Jun;359(9324):2168-70. [PubMed 12090986]
  2. Erythrocyte Count
    Yoichiro Kamatani et al. Nature genetics 2010, Genome-wide association study of hematological and biochemical traits in a Japanese population., Nature genetics. [PubMed 20139978]
  3. glioma
    Shete ,et al. 2009, Genome-wide association study identifies five susceptibility loci for glioma, Nature genetics 2009 41- 8 : 899-904. [PubMed 19578367]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: TERT
Diseases sorted by gene-association score: dyskeratosis congenita, autosomal dominant 2* (1305), pulmonary fibrosis and/or bone marrow failure, telomere-related, 1* (1282), melanoma, cutaneous malignant, 9* (594), aplastic anemia* (463), dyskeratosis congenita autosomal dominant* (439), dyskeratosis congenita, autosomal recessive 1* (283), kidney clear cell sarcoma* (247), pulmonary fibrosis, idiopathic* (240), dyskeratosis congenita, autosomal dominant 1* (231), leukemia, acute myeloid* (215), dyskeratosis congenita* (136), hepatocellular carcinoma* (136), pulmonary fibrosis, familial* (100), tert-related cutaneous malignant melanoma* (100), tert-related dyskeratosis congenita* (100), tert-related familial pulmonary fibrosis* (100), pulmonary fibrosis (30), dyskeratosis congenita autosomal recessive (21), acral lentiginous melanoma (17), pancytopenia (15), cri-du-chat syndrome (13), malignant melanoma, somatic* (11), bladder disease (9), benign meningioma (9), cervical intraepithelial neoplasia (9), lung disease (8), mucosal melanoma (8), bowenoid papulosis (8), ureter cancer (8), ameloblastoma (8), larynx cancer (7), cervical cancer, somatic (7), inherited bone marrow failure syndromes (7), malignant glioma (7), vulvar intraepithelial neoplasia (7), acute myeloid leukemia, flt3-related (7), urinary bladder cancer (7), panophthalmitis (6), tongue cancer (6), spermatocele (6), thyroid cancer (6), intraventricular meningioma (6), lung cancer (6), bladder papillary transitional cell neoplasm (6), urinary tract papillary transitional cell benign neoplasm (6), soft tissue sarcoma (5), bladder cancer, somatic (5), female stress incontinence (5), juxtacortical chondroma (5), artery disease (4), spinal chordoma (4), mixed ductal-endocrine carcinoma (4), chorioretinal scar (4), cystitis cystica (4), purulent endophthalmitis (4), myelodysplastic syndrome (4), colorectal cancer (3), meninges hemangiopericytoma (3), nasopharyngeal carcinoma (3), stomach cancer (3), pancreatic cancer (2), melanoma (2), ovarian cancer, somatic (2), esophageal cancer (2), prostate cancer (2), lung cancer susceptibility 3 (2), adamantinoma of long bones (1), meningioma, familial (1), prostate cancer susceptibility (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.26 RPKM in Testis
Total median expression: 3.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AX810038 - Sequence 3 from Patent EP1333094.
AX810378 - Sequence 343 from Patent EP1333094.
BC062321 - Homo sapiens telomerase reverse transcriptase, mRNA (cDNA clone IMAGE:5095305).
AF015950 - Homo sapiens telomerase reverse transcriptase (hTRT) mRNA, complete cds.
AX810036 - Sequence 1 from Patent EP1333094.
DM139039 - Methods of enriching fetal cells.
AF018167 - Homo sapiens telomerase catalytic subunit (hEST2) mRNA, complete cds.
LF384934 - JP 2014500723-A/192437: Polycomb-Associated Non-Coding RNAs.
JD158390 - Sequence 139414 from Patent EP1572962.
JD460795 - Sequence 441819 from Patent EP1572962.
JD470918 - Sequence 451942 from Patent EP1572962.
JD440572 - Sequence 421596 from Patent EP1572962.
JD440571 - Sequence 421595 from Patent EP1572962.
JD374234 - Sequence 355258 from Patent EP1572962.
JD366868 - Sequence 347892 from Patent EP1572962.
JD389101 - Sequence 370125 from Patent EP1572962.
JD450836 - Sequence 431860 from Patent EP1572962.
JD421653 - Sequence 402677 from Patent EP1572962.
JD139876 - Sequence 120900 from Patent EP1572962.
JD058166 - Sequence 39190 from Patent EP1572962.
JD459106 - Sequence 440130 from Patent EP1572962.
JD334816 - Sequence 315840 from Patent EP1572962.
JD103528 - Sequence 84552 from Patent EP1572962.
BC156388 - Synthetic construct Homo sapiens clone IMAGE:100061944, MGC:190131 telomerase reverse transcriptase (TERT) mRNA, encodes complete protein.
BC172541 - Synthetic construct Homo sapiens clone IMAGE:100069235, MGC:199246 telomerase reverse transcriptase (TERT) mRNA, encodes complete protein.
AB085628 - Homo sapiens mRNA for telomerase reverse transcriptase, complete cds.
AB086379 - Homo sapiens hTERT mRNA for beta and gamma deletion isoform of telomerase reverse transcriptase, complete cds.
AB086950 - Homo sapiens TERT mRNA for ABG-deleted variant of telomerase reverse transcriptase, complete cds.
LF331999 - JP 2014500723-A/139502: Polycomb-Associated Non-Coding RNAs.
JF896284 - Homo sapiens telomerase reverse transcriptase isoform Delta2-13 (TERT) mRNA, partial sequence, alternatively spliced.
JF896281 - Homo sapiens telomerase reverse transcriptase isoform Delta3p-12 (TERT) mRNA, partial sequence, alternatively spliced.
JF896285 - Homo sapiens telomerase reverse transcriptase isoform Delta4-13 (TERT) mRNA, partial cds, alternatively spliced.
JF896283 - Homo sapiens telomerase reverse transcriptase isoform Delta2-8 (TERT) mRNA, partial sequence, alternatively spliced.
JF896280 - Homo sapiens telomerase reverse transcriptase isoform Delta2 (TERT) mRNA, partial sequence, alternatively spliced.
AX810043 - Sequence 8 from Patent EP1333094.
JF896282 - Homo sapiens telomerase reverse transcriptase isoform Delta4C (TERT) mRNA, partial cds, alternatively spliced.
JF896286 - Homo sapiens telomerase reverse transcriptase isoform INTR1 (TERT) mRNA, partial sequence, alternatively spliced.
MA620511 - JP 2018138019-A/192437: Polycomb-Associated Non-Coding RNAs.
MA567576 - JP 2018138019-A/139502: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_achPathway - Role of nicotinic acetylcholine receptors in the regulation of apoptosis
h_telPathway - Telomeres, Telomerase, Cellular Aging, and Immortality

-  Other Names for This Gene
  Alternate Gene Symbols: AB086379
UCSC ID: uc003jce.1
RefSeq Accession: NM_001193376

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TERT:
dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders)
pf (Pulmonary Fibrosis Predisposition Overview)

-  Gene Model Information
 
category: nearCoding nonsense-mediated-decay: yes RNA accession: AB086379.1
exon count: 13CDS single in 3' UTR: no RNA size: 3028
ORF size: 0CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4648.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.