TERC telomerase RNA component [Homo sapiens (human)] - Gene

Summary

Official Symbol: TERCprovided by HGNC
Official Full Name: telomerase RNA componentprovided by HGNC
Primary source: HGNC:HGNC:11727
See related: Ensembl:ENSG00000277925 MIM:602322; AllianceGenome:HGNC:11727
Gene type: ncRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TR; TER; hTR; TRC3; DKCA1; PFBMFT2; SCARNA19
Summary: 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, and an RNA component, encoded by this gene, that 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. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
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Genomic context

Location:: 3q26.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (169764610..169765060, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (172548562..172549012, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (169482398..169482848, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Title: Expanding the understanding of telomere biology disorder with reports from two families harboring variants in ZCCHC8 and TERC.
Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
Title: Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.
TERC haploid cell reprogramming: a novel therapeutic strategy for aplastic anemia.
Title: TERC haploid cell reprogramming: a novel therapeutic strategy for aplastic anemia.
Mutations in the TERC template sequence can be incorporated into the telomeres of human tumors.
Title: Mutations in the TERC template sequence can be incorporated into the telomeres of human tumors.
Telomerase RNA TERC and the PI3K-AKT pathway form a positive feedback loop to regulate cell proliferation independent of telomerase activity.
Title: Telomerase RNA TERC and the PI3K-AKT pathway form a positive feedback loop to regulate cell proliferation independent of telomerase activity.
TERT rs2736100 and TERC rs16847897 genotypes moderate the association between internalizing mental disorders and accelerated telomere length attrition among HIV+ children and adolescents in Uganda.
Title: TERT rs2736100 and TERC rs16847897 genotypes moderate the association between internalizing mental disorders and accelerated telomere length attrition among HIV+ children and adolescents in Uganda.
Prognostic Association of TERC, TERT Gene Polymorphism, and Leukocyte Telomere Length in Acute Heart Failure: A Prospective Study.
Title: Prognostic Association of TERC, TERT Gene Polymorphism, and Leukocyte Telomere Length in Acute Heart Failure: A Prospective Study.
Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis.
Title: Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis.
Dysregulated non-coding telomerase RNA component and associated exonuclease XRN1 in leucocytes from women developing preeclampsia-possible link to enhanced senescence.
Title: Dysregulated non-coding telomerase RNA component and associated exonuclease XRN1 in leucocytes from women developing preeclampsia-possible link to enhanced senescence.
Long non-coding RNAs at work on telomeres: Functions and implications in cancer therapy.
Title: Long non-coding RNAs at work on telomeres: Functions and implications in cancer therapy.

Submit: New GeneRIF Correction See all GeneRIFs (172)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dyskeratosis congenita, autosomal dominant 1 MedGen: C4551974 OMIM: 127550 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 MedGen: C3553622 OMIM: 614743 GeneReviews: Pulmonary Fibrosis Predisposition Overview, Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs

EBI GWAS Catalog

Description
A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants near TERC are associated with mean telomere length. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with bladder cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of relative telomere length. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of seven loci affecting mean telomere length and their association with disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC104358P1 (e-PCR)
- UniSTS:270107

PMC15121P1 (e-PCR)
- UniSTS:271141

NoName (e-PCR)
- UniSTS:484241

PMC37545P1 (e-PCR)
- UniSTS:273309

PMC14826P1 (e-PCR)
- UniSTS:271013

PMC154048P3 (e-PCR)
- UniSTS:271290

PMC96692P1 (e-PCR)
- UniSTS:273630

PMC96692P2 (e-PCR)
- UniSTS:273631

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to RNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables WD40-repeat domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to telomerase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to telomerase activity	TAS Traceable Author Statement more info	PubMed
enables template for synthesis of G-rich strand of telomere DNA activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to hypoxia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cellular senescence	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Cajal body	IDA Inferred from Direct Assay more info	PubMed
located_in Cajal body	IMP Inferred from Mutant Phenotype more info	PubMed
part_of box H/ACA telomerase RNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of box H/ACA telomerase RNP complex	TAS Traceable Author Statement more info	PubMed
colocalizes_with chromosome, telomeric region	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
part_of telomerase catalytic core complex	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase catalytic core complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of telomerase holoenzyme complex	IC Inferred by Curator more info	PubMed
part_of telomerase holoenzyme complex	IPI Inferred from Physical Interaction more info	PubMed

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.