Previous symbols: TSC4. Aliases: tuberin, LAM, PPP1R160.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Focal Cortical Dysplasia Type II | causative germline and somatic | |
| Gastroenteropancreatic Neuroendocrine Neoplasm |
untyped
Inactivating mutations in ~9% of pancreatic NETs; mTOR pathway component
|
|
| Lymphangioleiomyomatosis |
untyped
Biallelic Inactivating Mutations
germline and somatic
|
|
| Pancreatic Neuroendocrine Tumor |
untyped
Inactivating mutations in ~9% of pNETs; mTOR pathway component
|
|
| Perivascular Epithelioid Cell Neoplasm |
untyped
Biallelic Inactivating Mutations
somatic
|
|
| Sarcoidosis |
untyped
Mechanistic
|
|
| Tuberous Sclerosis Complex |
untyped
Pathogenic Mutations
|
mechanism: Somatic Second Hit at TSC Locus; TSC1/TSC2 Loss of Function (Germline First Hit); TSC2 GAP Domain Catalytic Loss
subtype: TSC2
|
| Infantile Spasms | no genetic record |
mechanism: mTOR pathway hyperactivation
|
| Non-functional Pancreatic Neuroendocrine Tumor | no genetic record |
mechanism: mTOR Pathway Activation
|
| Thymic Neuroendocrine Carcinoma | no genetic record |
mechanism: mTOR Pathway Restraint Loss
|
| Uterine Leiomyoma | no genetic record |
animal model: Eker rat (germline Tsc2 mutation)
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.