Gene Facts External Data Attribution

HGNC Symbol
TERT (HGNC:11730) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
telomerase reverse transcriptase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
TRT, TP2, TCS1, hEST2, EST2
%HI
18.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.99(Read more about gnomAD pLI score)
LOEUF
0.29(Read more about gnomAD LOEUF score)
Cytoband
5p15.33
Genomic Coordinates
GRCh37/hg19: chr5:1253282-1295183 NCBI Ensembl UCSC
GRCh38/hg38: chr5:1253167-1295068 NCBI Ensembl UCSC
MANE Select Transcript
NM_198253.3 ENST00000310581.10 (Read more about MANE Select)
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-de... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15968
Curation Status:
Reopened
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)