Gene
STN1
STN1 subunit of CST complex
- HGNC 26200↗(opens in a new tab)
- Ensembl gene ENSG00000107960↗(opens in a new tab)
- NCBI Gene 79991↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q24.33
- Coordinates
- Chromosome 10: 103,877,569–103,918,184 (GRCh38)
- Exons
- 10 exons across 40.6 kb
- Protein
- 368 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- FLJ22559, bA541N10.2
- Previous symbols
- OBFC1
- MANE Select transcript
- ENST00000224950.8NM_024928.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Dyskeratosis Congenita
- 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 moderate
- 2 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.
Vitreoretinopathy
- Coats Plus SyndromeAutosomal recessive
Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.
- ClinGen rates the link moderate
- 2 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How STN1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 6.4 kb of the gene's 40.6 kb; 1,107 of those bases code for the protein.
How a genome test reads STN1
1
position in STN1 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 40.6 kb of STN1, introns included, not only the 6.4 kb of exons.
Genes linked to the same conditions
- CTC1CST telomere replication complex component 1Shares 2 conditions
- ACDACD shelterin complex subunit and telomerase recruitment factorShares 1 condition
- CDCA7cell division cycle associated 7Shares 1 condition
- DNMT3BDNA methyltransferase 3 betaShares 1 condition
- HELLShelicase, lymphoid specificShares 1 condition
- NAF1nuclear assembly factor 1 ribonucleoproteinShares 1 condition
- PARNpoly(A)-specific ribonucleaseShares 1 condition
- POLA2DNA polymerase alpha 2, accessory subunitShares 1 condition
- POT1protection of telomeres 1Shares 1 condition
- RPA1replication protein A1Shares 1 condition
- RTEL1regulator of telomere elongation helicase 1Shares 1 condition
- TERCtelomerase RNA componentShares 1 condition
Traits linked to STN1
The Human Phenotype Ontology lists these as features of the rare conditions STN1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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.). STN1 gene: STN1 subunit of CST complex. Retrieved 16 October 2026, from https://dantelabs.com/genes/stn1
Dante Labs. STN1 gene: STN1 subunit of CST complex [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/stn1
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