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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
TSC2 7249 tuberous sclerosis 2  16tuberin, LAM, PPP1R160 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
20622004   2010Cell line : -

Source : Utah, the Northern California Kaiser Permanente Medical Care Program (KPMCP) and the Twin Cities Metropolitan area of Minnesota (colon cancer study only).

Sample Type : Population-based case-control study

No. of Sample : CRC 1444 and controls 1841), Hispanic or American Indian cases 60 and controls 75 and African-American cases 70 and controls 54 the rectal cancer study population consists of non-Hispanic white cases 657) and controls 856, Hispanic or American Indian cases 6) and controls 69, African-American cases 31 and controls 44 and Asian cases 40 and controls 30

Stage : -

-Polymorhpism--


Gene Details



NC_000016.9 (2097472..2138713)

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Gene Type protein coding
Gene Family -
Description Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]  
Chromosome 16
Location 16p13.3
Start 2097472  
End 2138713  
Strand +  
Gene Sequence

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Length 41242  
OMIM ID 191092   
HGNC ID HGNC:12363   
Unigene ID Hs.90303   
Ensembl ID ENSG00000103197   
PharmGKB ID PA37035   

mRNA Information


mRNA ID ?NM_000548.3
Exon join(1..130,652..818,2465..2551,6361..6505,7467..7584, 8261..8309,8709..8834,9170..9243,10812..10938, 12735..12878,13936..14073,14562..14665,15037..15118, 16337..16492,17584..17700,22521..22643,23575..23681, 23849..23999,24306..24428,24914..25048,26265..26454, 27864..27957,28133..28235,28556..28650,29663..29791, 31097..31261,31341..31493,31622..31734,32230..32442, 33660..33863,34501..34623,35760..35881,36293..36780, 37016..37091,37295..37387,38258..38444,38797..38936, 39928..40006,40113..40204,40292..40390,40511..40770)  
mRNA Sequence

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Length 5621  



CDS Information


   
Location160..5526
CDS Sequence

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CCDS ID CCDS10458.1



Protein Information


      
Protein IDNP_000539.2
Protein Nametuberous sclerosis 2
Molecular Wt. (Da)198279
Protein Sequence

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Length 1807  
Uniprot IDQ14512
Ensembl Protein ID ENSP00000371770  



Post-translational Modification Information (Source : HPRD)


Residue Type site
YPhosphorylation1571
YPhosphorylation1527
SPhosphorylation1254
SPhosphorylation1210
TPhosphorylation1462
SPhosphorylation939
YPhosphorylation1417
SPhosphorylation939
SPhosphorylation664
SPhosphorylation540
SPhosphorylation1387
SPhosphorylation1418
SPhosphorylation1420
SPhosphorylation1343
SPhosphorylation1374
SPhosphorylation1376
SPhosphorylation1320
SPhosphorylation1351
SPhosphorylation1353
SPhosphorylation1798
SPhosphorylation939
SPhosphorylation1411;-
SPhosphorylation1368;-
SPhosphorylation1367;-
SPhosphorylation1344;-
SPhosphorylation1132;-
SPhosphorylation1089;-
SPhosphorylation1088;-
SPhosphorylation1088;-
SPhosphorylation1755;-
SPhosphorylation1754;-
SPhosphorylation1731;-
SPhosphorylation1448;-
SPhosphorylation1447;-
SPhosphorylation1404;-
SPhosphorylation1405;-
SPhosphorylation1403;-
SPhosphorylation1404;-
SPhosphorylation1380;-
SPhosphorylation1381;-
TPhosphorylation927
TPhosphorylation927
TPhosphorylation927
TPhosphorylation927
SPhosphorylation981
SPhosphorylation1096
SPhosphorylation1053
SPhosphorylation1052
SPhosphorylation1052
SPhosphorylation1097
SPhosphorylation1054
SPhosphorylation1053
SPhosphorylation1053
SPhosphorylation1155
SPhosphorylation1112
SPhosphorylation1111
SPhosphorylation1111
SPhosphorylation1334
SPhosphorylation1338
SPhosphorylation1341
SPhosphorylation1291
SPhosphorylation1295
SPhosphorylation1298
SPhosphorylation1290
SPhosphorylation1294
SPhosphorylation1297
SPhosphorylation1267
SPhosphorylation1271
SPhosphorylation1274
SPhosphorylation1337
SPhosphorylation1294
SPhosphorylation1293
SPhosphorylation1270
SPhosphorylation1385
SPhosphorylation1342
SPhosphorylation1341
SPhosphorylation1318
SPhosphorylation1386
SPhosphorylation1343
SPhosphorylation1342
SPhosphorylation1319
SPhosphorylation1344
SPhosphorylation1388
SPhosphorylation1345
SPhosphorylation1344
SPhosphorylation1321
TPhosphorylation1393
TPhosphorylation1350
TPhosphorylation1349
TPhosphorylation1326
SPhosphorylation1377
SPhosphorylation1449
SPhosphorylation1406
SPhosphorylation1405
SPhosphorylation1382
SPhosphorylation1452
SPhosphorylation1409
SPhosphorylation1408
SPhosphorylation1385
SPhosphorylation1375
SPhosphorylation1094
SPhosphorylation1051
SPhosphorylation1050
SPhosphorylation1050
SPhosphorylation1346
SPhosphorylation1303
SPhosphorylation1302
SPhosphorylation1279
TPhosphorylation1419
TPhosphorylation1418
TPhosphorylation1395
SPhosphorylation939
SPhosphorylation1364
SPhosphorylation1321
SPhosphorylation1320
SPhosphorylation1297
YPhosphorylation602
SPhosphorylation608
YPhosphorylation602
SPhosphorylation608
YPhosphorylation602
SPhosphorylation608
YPhosphorylation602
SPhosphorylation608
SPhosphorylation1130
SPhosphorylation1087
SPhosphorylation1086
SPhosphorylation1086
SPhosphorylation1259
SPhosphorylation1216
SPhosphorylation1215
SPhosphorylation1215

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

                                                                                                                                                                                                   
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
595CCND11346NP_444284.1in vitro16357142   
1027CDKN1B2867NP_004055.1in vivo15355997   
2932GSK3B5418NP_002084.2in vivo12511557   
4087SMAD23221NP_005892.1in vitro;in vivo15066998   
4088SMAD34380NP_005893.1in vitro;in vivo15066998   
5066PAM1361NP_000910.2in vitro14559897   
5868RAB5A1542NP_004153.2in vitro;in vivo9045618   
6195RPS6KA13402NP_001006666.1in vitro;in vivo15342917   
7533YWHAH215NP_003396.1in vitro12438239   
10000AKT36441NP_005456.1in vitro;in vivo12167664   
10971YWHAQ886NP_006817.1in vitro12438239   
26233FBXL616429NP_036294.1in vitro;yeast 2-hybrid18381890   
54461FBXW510955NP_061871.1in vitro;yeast 2-hybrid18381890   


Pathway Information


                                                      
Pathway Name Pathway ID
AMPK signaling pathway hsa04152
Choline metabolism in cancer hsa05231
Insulin signaling pathway hsa04910
Longevity regulating pathway - mammal hsa04211
mTOR signaling pathway hsa04150
p53 signaling pathway hsa04115
Phospholipase D signaling pathway hsa04072
PI3K-Akt signaling pathway hsa04151
Thyroid hormone signaling pathway hsa04919


Structure Information


No matching records could be found.

Domain Information




ID Location Description
pfam03542557-904  Tuberin
cl04144557-904  Tuberin superfamily
pfam1186451-472  DUF3384
cl2043351-472  DUF3384 superfamily
pfam021451561-1750  Rap_GAP
cl034661561-1750  Rap_GAP superfamily


Ontology Information


   
HPRD ID6441
Molecular ClassGTPase activating protein
Molecular FunctionProtein serine/threonine kinase activity (GO:0004674)
Biological ProcessCell communication (GO:0007154); Signal transduction (GO:0007165)  



SNP Information


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Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO