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Description for Protein FLCN

folliculin
2 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09594
    KEGG - Pathway(s):
    hsa05211
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    FLCL; BHD; BIRT-HOGG-DUBE gene; MGC17998; MGC23445; Folliculin isoform 1; Folliculin isoform 2
    Approved Symbol:
    FLCN
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Birt-Hogg-Dube syndrome(Pd);
  • Colorectal cancer, somatic(Pd);
  • Pneumothorax, primary spontaneous(Pd);
  • Renal carcinoma, chromophobe, somatic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06278 Entrez Gene ID: 201163 OMIM ID: 607273 Swissprot Accession: Q8NFG4;