TSC2 Chromosome 16

TSC complex subunit 2
2446 variants 2446 Health Risk

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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
RS2544308812 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544322685 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544324324 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2544369839 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544373293 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544378271 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544381008 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544381683 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544402252 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544402748 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2544404975 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544406616 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544476516 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544478263 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544479059 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544494019 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544496983 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548349199 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548350627 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548351050 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548351086 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548351472 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548372234 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548373189 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548396109 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548396658 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548396741 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548397273 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548398022 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548433432 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548433982 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548434695 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548435097 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548450771 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548461616 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548461942 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548464205 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548472557 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548493997 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548495653 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548497000 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548497097 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548521862 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548536357 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2548536950 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548538848 Health Risk Pathogenic Tuberous sclerosis syndrome, Tuberous sclerosis syndrome
RS2548539006 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548547487 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548553008 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2548553628 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
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