Gene
TERC
telomerase RNA component
- HGNC 11727↗(opens in a new tab)
- Ensembl gene ENSG00000270141↗(opens in a new tab)
- NCBI Gene 7012↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q26.2
- Coordinates
- Chromosome 3: 169,764,610–169,765,060 (GRCh38)
- Exons
- 1 exon across 0.5 kb
- Also known as
- TR, hTR, TRC3, SCARNA19, TER
- MANE Select transcript
- ENST00000602385.3NR_001566.3
- Locus type
- RNA, long non-coding
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Dyskeratosis Congenita
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- Telomere syndromes
Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.
How TERC is laid out
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.5 kb of the gene's 0.5 kb.
How a genome test reads TERC
19
positions in TERC where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 0.5 kb of TERC, introns included, not only the 0.5 kb of exons.
Genes linked to the same conditions
- ACDACD shelterin complex subunit and telomerase recruitment factorShares 2 conditions
- CTC1CST telomere replication complex component 1Shares 2 conditions
- PARNpoly(A)-specific ribonucleaseShares 2 conditions
- RTEL1regulator of telomere elongation helicase 1Shares 2 conditions
- TERTtelomerase reverse transcriptaseShares 2 conditions
- CDCA7cell division cycle associated 7Shares 1 condition
- DCLRE1BDNA cross-link repair 1BShares 1 condition
- DKC1dyskerin pseudouridine synthase 1Shares 1 condition
- DNMT3BDNA methyltransferase 3 betaShares 1 condition
- HELLShelicase, lymphoid specificShares 1 condition
- NAF1nuclear assembly factor 1 ribonucleoproteinShares 1 condition
- NHP2NHP2 ribonucleoproteinShares 1 condition
Traits linked to TERC
The Human Phenotype Ontology lists these as features of the rare conditions TERC can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Abnormal blistering of the skin
- Abnormal fingernails
- Flat, discolored area of skin
- Hyperpigmented skin patches
- Poor nail formation
- Reticular hyperpigmentation
- Skin degeneration
- Absent/small skin
Show 16 more traits
- Absent/small toenails
- Excessive sweating
- Excessive wrinkled skin
- Generalized hyperpigmentation
- Generalized hypopigmentation of hair
- Open skin sore
- Patchy loss of skin color
- Persistent blue color of hands or feet
- Premature graying of hair
- Sparse hair
- Hair loss
- Skin vesicle
- White hair
- Grooved nails
- Nail pits
- Squamous cell carcinoma of the skin
Abnormality of the respiratory system
- Abnormality in area between air sacs in lung
- Abnormality of the pharynx
- Cough
- Crackles
- Decreased DLCO
- Exertional breathlessness
- Ground-glass opacification
- Honeycomb lung
Show 11 more traits
- Permanent enlargement of the airways of the lungs
- Pulmonary scarring
- Reduced forced vital capacity
- Reticular pattern on pulmonary HRCT
- Subpleural honeycombing
- Usual interstitial pneumonia
- Breathing difficulty
- Interstitial pneumonitis
- Orthodeoxia
- Alveolar cell carcinoma
- Elevated bronchoalveolar lavage fluid neutrophil proportion
Abnormality of the digestive system
- Abnormal connection between trachea and esophagus
- Acid reflux
- Anorectal anomaly
- Malabsorption
- Narrowing of the esophagus
- Cancer of the pancreas
- Enlarged liver
- Hepatic necrosis
Show 2 more traits
External links
Gene records
Transcript
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TERC gene: telomerase RNA component. Retrieved 16 October 2026, from https://dantelabs.com/genes/terc
Dante Labs. TERC gene: telomerase RNA component [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/terc
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