Serine/Threonine Protein Kinase 11

Alternative Names

  • STK11
  • LKB1

Associated Diseases

Breast Cancer
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OMIM Number

602216

NCBI Gene ID

6794

Uniprot ID

Q15831

Length

50,874 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Serine/threonine-protein kinase STK11

Molecular Mass

48636 Da

Amino Acid Count

433

Genomic Location

chr19:1,177,558-1,228,431

Gene Map Locus
19p13.3

Description

This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000455.5:c.1211C>TLebanonchr19:1226556Benign, Likely BenignUncertain SignificanceBreast CancerNG_007460.2:g.42150C>T; NM_000455.5:c.1211C>T; NP_000446.1:p.Ser404Phe200078204127700
NM_000455.5:c.375-1C>TLebanonchr19:1219323Uncertain SignificanceBreast CancerNG_007460.2:g.34917C>T; NM_000455.5:c.375-1C>T

Other Reports

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified an Emirati patient with pathogenic variants in the STK11 gene. An additional Emirati was found to have a variant of uncertain significance in the same gene.  

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