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
RS45517204 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517206 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517215 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517223 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS45517236 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517238 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517249 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517264 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, TSC2-related disorder, Hereditary cancer-predisposing syndrome
RS45517269 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517273 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517275 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517284 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517286 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517287 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS45517294 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517296 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517297 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS45517301 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517304 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517305 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS45517314 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517317 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517319 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517322 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS45517326 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517328 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517332 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517333 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517338 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517339 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS45517341 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS45517343 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517344 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517349 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS45517350 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517352 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis 2
RS45517353 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS45517363 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517373 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517383 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517391 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517392 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517394 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS45517407 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS45517408 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS45517409 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517414 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS45517418 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
RS45517419 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS45517420 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
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