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TSC2 (tuberous sclerosis 2)

Written2001-11Aristotelis Astrinidis, Elizabeth Petri Henske
Fox Chase Cancer Center, 7701 Burholme Ave, Philadelphia PA 19111, USA

(Note : for Links provided by Atlas : click)


HGNC (Hugo) TSC2
HGNC Alias symbtuberin
HGNC Alias nameprotein phosphatase 1, regulatory subunit 160
HGNC Previous nameTSC4
HGNC Previous nametuberous sclerosis 2
LocusID (NCBI) 7249
Atlas_Id 184
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 2047985 and ends at 2088720 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping TSC2.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KCTD5 (16p13.3)::TSC2 (16p13.3)TSC2 (16p13.3)::ATP6V0C (16p13.3)TSC2 (16p13.3)::CASKIN1 (16p13.3)
TSC2 (16p13.3)::CHTF18 (16p13.3)TSC2 (16p13.3)::RPS2 (16p13.3)TSC2 (16p13.3)::SYNGR3 (16p13.3)
TSC2 (16p13.3)::TMEM204 (16p13.3)TSC2 (16p13.3)::TSC2 (16p13.3)


Description 41 exons; spans 41kb
Transcription At least 3 alternate splicings; 5.5kb mRNA complete cds; coding sequence: CDS 19-5442


Description Tuberin; 1807 amino acids; 190 kDaltons
Expression Expressed in most embryonic and adult tissues
Localisation Cytoplasmic
Function Potential GTPase activating protein (GAP) for Rap1a and/or Rab5; Interacts with hamartin ( TSC1 gene product) and Rabaptin-5
Homology 188 residues at the COOH terminus have homology to Rap/Ran GAP


Germinal Large genomic deletions in <10% of cases; point mutations widely dispersed, with no cluster; truncating effect in 2/3 of cases
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 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 Sporadic lymphangioleiomyomatosis (LAM)
Disease Lung disease affecting almost exclusively women, characterized by diffuse bilateral proliferation of abnormal smooth muscle cells in the lungs


9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene.
Carbonara C, Longa L, Grosso E, Borrone C, Garrè MG, Brisigotti M, Migone N
Human molecular genetics. 1994 ; 3 (10) : 1829-1832.
PMID 7849708
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.
Carsillo T, Astrinidis A, Henske EP
Proceedings of the National Academy of Sciences of the United States of America. 2000 ; 97 (11) : 6085-6090.
PMID 10823953
Identification and characterization of the tuberous sclerosis gene on chromosome 16.
European Chromosome 16 Tuberous Sclerosis Consortium, European Chromosome 16 Tuberous Sclerosis Consortium
Cell. 1993 ; 75 (7) : 1305-1315.
PMID 8269512
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.
Green AJ, Smith M, Yates JR
Nature genetics. 1994 ; 6 (2) : 193-196.
PMID 8162074
Tuberous sclerosis gene 2 product modulates transcription mediated by steroid hormone receptor family members.
Henry KW, Yuan X, Koszewski NJ, Onda H, Kwiatkowski DJ, Noonan DJ
The Journal of biological chemistry. 1998 ; 273 (32) : 20535-20539.
PMID 9685410
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, Neumann HP, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ
Genes, chromosomes & cancer. 1995 ; 13 (4) : 295-298.
PMID 7547639
gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle.
Ito N, Rubin GM
Cell. 1999 ; 96 (4) : 529-539.
PMID 10052455
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, Minowa O, Sugitani Y, Takai S, Mitani H, Kobayashi E, Noda T, Hino O
Proceedings of the National Academy of Sciences of the United States of America. 2001 ; 98 (15) : 8762-8767.
PMID 11438694
Tsc2(+/-) mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background.
Onda H, Lueck A, Marks PW, Warren HB, Kwiatkowski DJ
The Journal of clinical investigation. 1999 ; 104 (6) : 687-695.
PMID 10491404
Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.
Plank TL, Yeung RS, Henske EP
Cancer research. 1998 ; 58 (21) : 4766-4770.
PMID 9809973
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, Pusch O, Wienecke R, DeClue JE, Hengstschlä M
The Journal of biological chemistry. 1997 ; 272 (46) : 29301-29308.
PMID 9361010
Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity.
Wienecke R, König A, DeClue JE
The Journal of biological chemistry. 1995 ; 270 (27) : 16409-16414.
PMID 7608212
The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.
Xiao GH, Shoarinejad F, Jin F, Golemis EA, Yeung RS
The Journal of biological chemistry. 1997 ; 272 (10) : 6097-6100.
PMID 9045618
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
van Slegtenhorst M, Nellist M, Nagelkerken B, Cheadle J, Snell R, van den Ouweland A, Reuser A, Sampson J, Halley D, van der Sluijs P
Human molecular genetics. 1998 ; 7 (6) : 1053-1057.
PMID 9580671


This paper should be referenced as such :
Astrinidis, A ; Petri, Henske E
TSC2 (tuberous sclerosis 2)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):27-28.
Free journal version : [ pdf ]   [ DOI ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(16;16)(p13;p13) TSC2::ATP6V0C

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ]
  Familial glioma Familial nervous system tumour syndromes Tuberous sclerosis (TSC)

External links

HGNC (Hugo)TSC2   12363
LRG (Locus Reference Genomic)LRG_487
Entrez_Gene (NCBI)TSC2    TSC complex subunit 2
AliasesLAM; PPP1R160; TSC4
GeneCards (Weizmann)TSC2
Ensembl hg19 (Hinxton)ENSG00000103197 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103197 [Gene_View]  ENSG00000103197 [Sequence]  chr16:2047985-2088720 [Contig_View]  TSC2 [Vega]
ICGC DataPortalENSG00000103197
TCGA cBioPortalTSC2
AceView (NCBI)TSC2
Genatlas (Paris)TSC2
SOURCE (Princeton)TSC2
Genetics Home Reference (NIH)TSC2
Genomic and cartography
GoldenPath hg38 (UCSC)TSC2  -     chr16:2047985-2088720 +  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TSC2  -     16p13.3   [Description]    (hg19-Feb_2009)
GoldenPathTSC2 - 16p13.3 [CytoView hg19]  TSC2 - 16p13.3 [CytoView hg38]
Genome Data Viewer NCBITSC2 [Mapview hg19]  
OMIM191092   606690   607341   613254   
Gene and transcription
Genbank (Entrez)AB210000 AK022401 AK094152 AK125096 AK294548
RefSeq transcript (Entrez)NM_000548 NM_001077183 NM_001114382 NM_001318827 NM_001318829 NM_001318831 NM_001318832 NM_001363528 NM_001370404 NM_001370405 NM_021055 NM_021056
Consensus coding sequences : CCDS (NCBI)TSC2
Gene ExpressionTSC2 [ NCBI-GEO ]   TSC2 [ EBI - ARRAY_EXPRESS ]   TSC2 [ SEEK ]   TSC2 [ MEM ]
Gene Expression Viewer (FireBrowse)TSC2 [ Firebrowse - Broad ]
GenevisibleExpression of TSC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7249
GTEX Portal (Tissue expression)TSC2
Human Protein AtlasENSG00000103197-TSC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TSC2
Human Protein Atlas [tissue]ENSG00000103197-TSC2 [tissue]
Protein Interaction databases
Ontologies - Pathways
PubMed443 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Oct 8 21:30:13 CEST 2021

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