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FLASH GENE
Symbol STK11 contributors: mct/pgu/shn - updated : 14-06-2016
HGNC name serine/threonine kinase 11
HGNC id 11389
ASSOCIATED DISORDERS
corresponding disease(s) PJS1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral somatic mutation      
in sporadic testicular cancer, malignant skin melanoma and laryngeal tumor
tumoral somatic mutation      
in gastrointestinal hamartomatous polyps in PJS1(familial forms)
tumoral germinal mutation      
in gastrointestinal hamartomatous polyps in PJS1(familial forms)
tumoral   LOH    
in PJS1 with polyposis resistant to transformation
tumoral somatic mutation      
in lung adenocarcinomas
tumoral       loss of function
in ovarian, intestinal and pancreatic cancer
tumoral germinal mutation      
in head and neck squamous cell carcinoma
tumoral     --low  
in breast cancer
tumoral     --over  
in breast cancer cells resulted in significant inhibition of invasion and significantly associated with a decrease in microvessel density
tumoral somatic mutation      
and homozygous inactivating mutations in non-small-cell lung cancers
tumoral   LOH    
in &8764;30p100 of lung adenocarcinomas, contribute significantly to lung cancer malignancy progression (
tumoral   deletion    
frequent homozygous deletion in non-small cell lung cancer
Susceptibility
  • to malignancies, to pancreatic cancer
  • to absence of ovulatory response to treatment with metformin in polycystic ovary syndrome (PCOS)
  • Variant & Polymorphism SNP , other C allele of a single nucleotide polymorphism associated with a significantly decreased chance of ovulation in PCOS women treated with metformin
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    COX-2 as a potential target for chemoprevention in Peutz-Jeghers polyposis patients
    ANIMAL & CELL MODELS
  • mice with a targeted disruption of Lkb1 die at midgestation, with the embryos showing neural tube defects, mesenchymal cell death and deregulation of vascular endothelial growth factor (VEGF) expression
  • Lkb1 (+/-) mice develop hamartomatous polyps in the glandular stomach
  • Lkb1(-/-) mice died in utero between 8.5 and 9.5 days postcoitum with developmental retardation and multiple gastric adenomatous polyps
  • in somatically activatable mutant Kras- driven model of mouse lung cancer, pulmonary tumorigenesis was accelerated by hemizygous inactivation of Lkb1 (STK11)
  • LKB1-deficient murine embryonic fibroblasts show nearly complete loss of Thr-172 phosphorylation and downstream AMPK signaling in response to a variety of stimuli that activate AMPK (
  • deletion of LKB1 in liver of adult mice result in a loss of AMPK activityand hyperglycemia with increased gluconeogenic and lipogenic gene expression
  • LKB1-KO mice displayed biatrial enlargement with atrial fibrillation and cardiac dysfunction at 4 weeks of age
  • deletion of Stk11 gene in mice caused increased haematopoietic stem cell (HSC) division, rapid HSC depletion and pancytopenia (
  • Lkb1-deficient haematopoietic stem cell have reduced mitochondrial membrane potential and ATP levels, exhibit defects in centrosomes and mitotic spindles in culture, and become aneuploid (
  • Lkb1 inactivation in adult mice causes loss of haematopoietic stem cell quiescence followed by rapid depletion of all haematopoietic subpopulations (
  • Lkb1-deficient bone marrow cells exhibit mitochondrial defects, alterations in lipid and nucleotide metabolism, and depletion of cellular ATP (
  • ablation of Lkb1 in adult mice results in severe pancytopenia and subsequent lethality (