TSC2 Chromosome 16

TSC complex subunit 2
2446 variants 2446 Health Risk

Upload your DNA to see your personal genotypes for variants in TSC2.

What This Gene Does
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]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Armadillo like helical domain containing|TSC complex"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103197
Associated Conditions (60)
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Lymphangiomyomatosis
Tuberous sclerosis syndrome
TSC2-related disorder
Vesicoureteral reflux 8
Ovarian cancer
Tuberous sclerosis 1
Lung lymphangioleiomyomatosis
See cases
Hypertrophic cardiomyopathy 7
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Cervical cancer
Colorectal cancer
Melanoma
Rhabdomyoma
Autism spectrum disorder
Sarcoma
+40 more conditions
Key Variants
RS1001211672
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
Health Risk
RS1005027685
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
Health Risk
RS1008733639
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
Health Risk
RS1009050362
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
Health Risk
RS1011282445
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2
Health Risk
RS1013995962
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
Health Risk
RS1015282988
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
Health Risk
RS1015629239
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
Health Risk
RS1018327394
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
Health Risk
RS1018951391
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
Health Risk
RS1020561347
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
Health Risk
RS1026632436
Conflicting classifications of pathogenicity
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
Health Risk
All Variants (2446)
RSID Category Clinical Significance Conditions
RS2151346636 Health Risk Pathogenic —
RS2151347763 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151349354 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151351558 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151356819 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151380036 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151380836 Health Risk Pathogenic TSC2-related disorder, TSC2-related disorder
RS2151387560 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151431781 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151432406 Health Risk Pathogenic Lymphangiomyomatosis, Lymphangiomyomatosis
RS2151437486 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151437718 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151444781 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151445155 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151446681 Health Risk Pathogenic —
RS2151456652 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151456849 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151458037 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151459190 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151462008 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151462525 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151462990 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151480775 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151481415 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151482554 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151483315 Health Risk Pathogenic —
RS2151512451 Health Risk Pathogenic —
RS2151512637 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151520497 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151520544 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151521044 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151522509 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151523516 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151524044 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151524091 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151524944 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151530795 Health Risk Pathogenic —
RS2151534791 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151536071 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151536718 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151537568 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151545272 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151550210 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151551960 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151553190 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151554076 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151569037 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151569238 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151573209 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151573795 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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