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Description for Protein TSC2

tuberous sclerosis 2
43 total interacting proteins; 30 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
None Available
KEGG - Orthology:
K07207
KEGG - Pathway(s):
hsa04115; hsa04150; hsa04910
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Tuberous sclerosis 2 protein; TSC4; Tuberous sclerosis 2 isoform 1; Tuberous sclerosis 2 isoform 4
Approved Symbol:
TSC2
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 157
Human (de-) phosphorylation sites: 157; 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:

  • Lymphangioleiomyomatosis, somatic(Pd);
  • Tuberous sclerosis 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 5 : 0
  • Isoform 4 : 0
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01850 Entrez Gene ID: 7249 OMIM ID: 191092 Swissprot Accession: P49815;