TSC2 (tuberous sclerosis 2)
2001-11-01 Aristotelis Astrinidis , Elizabeth Petri Henske AffiliationFox Chase Cancer Center, 7701 Burholme Ave, Philadelphia PA 19111, USA
Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
LAM,PPP1R160,TSC4
FUSION GENES
DNA/RNA
Description
41 exons; spans 41kb
Transcription
At least 3 alternate splicings; 5.5kb mRNA complete cds; coding sequence: CDS 19-5442
Proteins
Description
Tuberin; 1807 amino acids; 190 kDaltons
Expression
Expressed in most embryonic and adult tissues
Localisation
Cytoplasmic
Function
Homology
188 residues at the COOH terminus have homology to Rap/Ran GAP
Mutations
Germinal
Large genomic deletions in
Somatic
loss-of-heterozygosity in 2/3 of renal angiomyolipomas; Somatic mutations in angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM) cells from women with sporadic LAM
Implicated in
Entity name
Tuberous Sclerosis Comples (TSC)
Disease
Autosomal dominant disease characterized by seizures, mental retardation, autism, benign tumors of the brain, heart, skin, kidney, and malignant kidney tumors.
Entity name
Disease
Lung disease affecting almost exclusively women, characterized by diffuse bilateral proliferation of abnormal smooth muscle cells in the lungs
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 7849708 | 1994 | 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. | Carbonara C et al |
| 10823953 | 2000 | Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. | Carsillo T et al |
| 8269512 | 1993 | Identification and characterization of the tuberous sclerosis gene on chromosome 16. | |
| 8162074 | 1994 | Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. | Green AJ et al |
| 9685410 | 1998 | Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members. | Henry KW et al |
| 7547639 | 1995 | Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. | Henske EP et al |
| 10052455 | 1999 | gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle. | Ito N et al |
| 11438694 | 2001 | A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice. | Kobayashi T et al |
| 10491404 | 1999 | Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. | Onda H et al |
| 9809973 | 1998 | Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. | Plank TL et al |
| 9361010 | 1997 | Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase. | Soucek T et al |
| 7608212 | 1995 | Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. | Wienecke R et al |
| 9045618 | 1997 | The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. | Xiao GH et al |
| 9580671 | 1998 | Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. | van Slegtenhorst M et al |
Other Information
Locus ID:
NCBI: 7249
MIM: 191092
HGNC: 12363
Ensembl: ENSG00000103197
Variants:
dbSNP: 7249
ClinVar: 7249
TCGA: ENSG00000103197
COSMIC: TSC2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA37034 | TSC1 | Gene | DataAnnotation | associated | |||
| PA445965 | Tuberous Sclerosis | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37740860 | 2024 | Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants. | 0 |
| 37914149 | 2024 | Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma. | 0 |
| 38212374 | 2024 | The role of TSC1 and TSC2 proteins in neuronal axons. | 0 |
| 38412945 | 2024 | A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway. | 1 |
| 37740860 | 2024 | Multi-dimensional Insight into the Coexistence of Pathogenic Genes for ADAR1 and TSC2: Careful Consideration is Essential for Interpretation of ADAR1 Variants. | 0 |
| 37914149 | 2024 | Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma. | 0 |
| 38212374 | 2024 | The role of TSC1 and TSC2 proteins in neuronal axons. | 0 |
| 38412945 | 2024 | A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway. | 1 |
| 36581342 | 2023 | Concurrent Reduced Expression of Contiguous PKD1, TSC2 and NTHL1 Leading to Kidney Diseases and Multiple Diverse Renal Cancers. | 1 |
| 36586433 | 2023 | Knockout of TSC2 in Nav1.8+ neurons predisposes to the onset of normal weight obesity. | 0 |
| 36608575 | 2023 | Tuberin levels during cellular differentiation in brain development. | 1 |
| 36715448 | 2023 | TSC2 regulates tumor susceptibility to TRAIL-mediated T-cell killing by orchestrating mTOR signaling. | 3 |
| 36719021 | 2023 | Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. | 0 |
| 36883564 | 2023 | mTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer. | 6 |
| 37088138 | 2023 | Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. | 1 |
Citation
Aristotelis Astrinidis ; Elizabeth Petri Henske
TSC2 (tuberous sclerosis 2)
Atlas Genet Cytogenet Oncol Haematol. 2001-11-01
Online version: http://atlasgeneticsoncology.org/gene/184
