U.S. flag

An official website of the United States government

GTR Home > Genes

TSC2 TSC complex subunit 2

Gene ID: 7249, updated on 21-Mar-2023
Gene type: protein coding
Also known as: LAM; TSC4; PPP1R160


This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

Associated conditions

See all available tests in GTR for this gene

Isolated focal cortical dysplasia type II
MedGen: C1846385OMIM: 607341GeneReviews: Not available
See labs
Joint influence of small-effect genetic variants on human longevity.
GeneReviews: Not available
MedGen: C0751674OMIM: 606690GeneReviews: Not available
See labs
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Tuberous sclerosis 2See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2020-06-10)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-10)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 16; NC_000016.10 (2047985..2089491)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.