STK11 - Serine/threonine-protein kinase STK11 - human protein (Medical)
 
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STK11 »  Serine/threonine-protein kinase STK11   [ EC 2.7.11.1 ]
 
Protein also known as:  Renal carcinoma antigen NY-REN-19.
Gene name:  STK11
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 249 2
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Peutz-Jeghers syndrome (PJS) [MIM:175200]: An autosomal dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous polyps and an increased risk for various neoplasms, including gastrointestinal cancer. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. The gene represented in this entry may be involved in disease pathogenesis.  
  • CuratedUniProtKB
Defects in STK11 are associated with some sporadic cancers, especially lung cancers. Frequently mutated and inactivated in non-small cell lung cancer (NSCLC). Defects promote lung cancerigenesis process, especially lung cancer progression and metastasis. Confers lung adenocarcinoma the ability to trans-differentiate into squamous cell carcinoma. Also able to promotes lung cancer metastasis, via both cancer-cell autonomous and non-cancer-cell autonomous mechanisms.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following disease:
Peutz-Jeghers syndrome  2869  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Tumor suppressor  definition   [KW-0043]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 6794
MIM: 273300
MIM: 175200
PharmGKB: PA36198
Polymorphism databases
DMDM: 3024670
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.