Gene
STK11
serine/threonine kinase 11
- HGNC 11389(opens in a new tab)
- Ensembl gene ENSG00000118046(opens in a new tab)
- NCBI Gene 6794(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 1,205,778–1,228,431 (GRCh38)
- Exons
- 10 exons across 22.7 kb
- Protein
- 433 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- PJS, LKB1
- MANE Select transcript
- ENST00000326873.12NM_000455.5
- 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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Peutz-Jeghers Syndrome
- Autosomal dominant
Hamartomatous gastrointestinal polyposis with mucocutaneous pigmentation and increased risk of gastrointestinal, breast, pancreatic and gynaecological cancers.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Surveillance endoscopy from childhood, breast, pancreatic and gynaecological screening in adulthood, and testing of relatives.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How STK11 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
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 3.3 kb of the gene's 22.7 kb; 1,302 of those bases code for the protein.
How a genome test reads STK11
304
positions in STK11 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 22.7 kb of STK11, introns included, not only the 3.3 kb of exons.
Variants with a page (68)
The STK11 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.180C>A | Exon 1 | 1,207,093 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.180del | Exon 1 | 1,207,092 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.290+1G>A | Intron 1 | 1,207,204 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.290+1G>C | Intron 1 | 1,207,204 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.290+2_290+4del | Intron 1 | 1,207,204 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.291-2A>G | Intron 1 | 1,218,415 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.374+1A>G | Intron 2 | 1,218,501 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.597+1G>T | Intron 4 | 1,220,506 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.598-2A>G | Intron 4 | 1,220,579 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| c.734+1G>A | Intron 5 | 1,220,718 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
Traits linked to STK11
The Human Phenotype Ontology lists these as features of the rare conditions STK11 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the digestive system
- Abdominal pain
- Bloody diarrhea
- Hamartomatous polyposis
- Intussusception
- Multiple gastric polyps
- Abnormality of the gastrointestinal tract
- Gastrointestinal carcinoma
- Abnormality of the gallbladder
Show 14 more traits
Abnormality of the genitourinary system
- Abnormality of the ureter
- Cancer starting in small tubes in kidneys
- Cervix cancer
- Enlarged ovaries with cysts
- Multiple kidney cysts
- Absent sperm in semen
- Bladder polyp
- Ovarian cyst
Show 2 more traits
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.). STK11 gene: serine/threonine kinase 11. Retrieved 16 October 2026, from https://dantelabs.com/genes/stk11
Dante Labs. STK11 gene: serine/threonine kinase 11 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/stk11
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