STK11 Chromosome 19
Serine/threonine kinase 11
Upload your DNA to see your personal genotypes for variants in STK11.
What This Gene Does
The protein encoded by this gene is a serine/threonine kinase that regulates cell polarity and energy metabolism and functions as a tumor suppressor. Mutations in this gene have been associated with the autosomal dominant Peutz-Jeghers syndrome, as well as with skin, pancreatic, and testicular cancers. [provided by RefSeq, May 2022]
Gene Info
Gene Group
STK11 family kinases
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000118046
Associated Conditions (36)
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
STK11-related disorder
Carcinoma of pancreas
Malignant tumor of testis
Melanoma
cutaneous malignant
susceptibility to
1
Malignant tumor of breast
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
Ovarian cancer
Marfanoid habitus and intellectual disability
Germ cell tumor of testis
Familial pancreatic carcinoma
Colon adenocarcinoma
Breast carcinoma
Familial ovarian cancer
See cases
+16 more conditions
Key Variants
RS1034644018
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1057517626
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057520869
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1057521267
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1057521355
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057522868
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, STK11-related disorder, Peutz-Jeghers syndrome
Health Risk
RS1057523753
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1057524439
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1060499953
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1060499956
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1060499958
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
RS1060499959
Conflicting classifications of pathogenicity
Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
Health Risk
All Variants (566)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS985937027 | Health Risk | Conflicting classifications of pathogenicity | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Familial ovarian cancer |
| RS1057518830 | Health Risk | Likely pathogenic | Periorbital hyperpigmentation, Intestinal polyposis, Periorbital hyperpigmentation |
| RS1057520041 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1057520379 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1060499964 | Health Risk | Likely pathogenic | Melanoma, Neoplasm, Melanoma |
| RS1064794805 | Health Risk | Likely pathogenic | — |
| RS1131690920 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1131690931 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Lung cancer, Hereditary cancer-predisposing syndrome |
| RS1131690935 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690941 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131690944 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS137853082 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome |
| RS1555735080 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1555738723 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS1568690546 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS1568707668 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS1568709203 | Health Risk | Likely pathogenic | — |
| RS1599924500 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2080670725 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2080765290 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2145420502 | Health Risk | Likely pathogenic | Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli |
| RS2145424331 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2145424658 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2145424662 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2145426900 | Health Risk | Likely pathogenic | Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2145428911 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2145430705 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2145435791 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2512921105 | Health Risk | Likely pathogenic | Melanoma, Melanoma |
| RS2512921949 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2512940408 | Health Risk | Likely pathogenic | Melanoma, Melanoma |
| RS2512942351 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2512942924 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2512943788 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2512943858 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2512946804 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2512949109 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2512949131 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS2512955106 | Health Risk | Likely pathogenic | Melanoma, cutaneous malignant, susceptibility to |
| RS730881971 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Lung cancer |
| RS730881972 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Familial pancreatic carcinoma, Melanoma |
| RS730881978 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS786202134 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS786202466 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS878853247 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS886037926 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |
| RS886041996 | Health Risk | Likely pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS1057520039 | Health Risk | Pathogenic | Peutz-Jeghers syndrome, Melanoma, cutaneous malignant |
| RS1057520042 | Health Risk | Pathogenic | Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome |
| RS1057520606 | Health Risk | Pathogenic | Peutz-Jeghers syndrome, Peutz-Jeghers syndrome |