TSC2 Chromosome 16
TSC complex subunit 2
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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 |
|---|---|---|---|
| RS794727602 | Health Risk | Likely pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS794727906 | Health Risk | Likely pathogenic | Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS1001221917 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1057518201 | Health Risk | Pathogenic | — |
| RS1057518230 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1057518448 | Health Risk | Pathogenic | — |
| RS1057518508 | Health Risk | Pathogenic | — |
| RS1057518535 | Health Risk | Pathogenic | — |
| RS1057520759 | Health Risk | Pathogenic | — |
| RS1060499647 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060500914 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060500924 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060500931 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060500934 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060500938 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1060500950 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1064792923 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1064793464 | Health Risk | Pathogenic | — |
| RS1064793524 | Health Risk | Pathogenic | — |
| RS1064793573 | Health Risk | Pathogenic | — |
| RS1064793646 | Health Risk | Pathogenic | — |
| RS1064793797 | Health Risk | Pathogenic | — |
| RS1064793853 | Health Risk | Pathogenic | — |
| RS1064796511 | Health Risk | Pathogenic | Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS1085307666 | Health Risk | Pathogenic | — |
| RS1085307762 | Health Risk | Pathogenic | — |
| RS1114167459 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS1114167461 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167462 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Lymphangiomyomatosis |
| RS1114167463 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167465 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1114167466 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Melanoma, Hereditary cancer-predisposing syndrome |
| RS1114167468 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS1131691419 | Health Risk | Pathogenic | — |
| RS1131691602 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1131691794 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1179490369 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1186913814 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1195091149 | Health Risk | Pathogenic | Tuberous sclerosis 2, Lymphangiomyomatosis, Isolated focal cortical dysplasia type II |
| RS1195418667 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1202939879 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS121964862 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS1283177454 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome |
| RS1345813917 | Health Risk | Pathogenic | Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS137853977 | Health Risk | Pathogenic | Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome |
| RS137853981 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS137853982 | Health Risk | Pathogenic | Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS137853988 | Health Risk | Pathogenic | Tuberous sclerosis syndrome, Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS137853993 | Health Risk | Pathogenic | Tuberous sclerosis syndrome, Tuberous sclerosis 2, Lymphangiomyomatosis |
| RS137853997 | Health Risk | Pathogenic | Tuberous sclerosis syndrome, Tuberous sclerosis syndrome |