full name
tuberous sclerosis 2

synonyms
LAM, TSC4, TSC2, ENSG00000103197

HGNC
HGNC:12363

Entrez Gene
Gene:7249

ENSEMBL
ENSG00000103197

location
chr: 16
start: 2097472
stop: 2138713
strand: +

OMIM
OMIM:191092: TSC2
OMIM:607341: ?Focal cortical dysplasia, type II, somatic
OMIM:606690: Lymphangioleiomyomatosis, somatic
OMIM:613254: Tuberous sclerosis-2

transcripts
NM_000548.3
NM_001114382.1
NM_001077183.1

pathways
AKT phosphorylates targets in the cytosol [NCBI:1269189] [REACTOME:R-HSA-198323]
AMPK signaling pathway [NCBI:989139] [KEGG:hsa04152] [PUBMED:22885100] [PUBMED:18725075] [PUBMED:22700795] [PUBMED:19724019] [PUBMED:19584320] [PUBMED:16644802] [PUBMED:20010958] [PUBMED:16479585] [PUBMED:19197243] [PUBMED:23565491] [PUBMED:20357764] [PUBMED:16723978] [PUBMED:16054041] [PUBMED:19393004] [PUBMED:23899560] [PUBMED:17307971] [PUBMED:15509864] [PUBMED:23024365] [PUBMED:23747347] [PUBMED:19629071]
Adaptive Immune System [NCBI:1269171] [REACTOME:R-HSA-1280218] [PUBMED:16551257] [PUBMED:21682741] [PUBMED:11861602]
Autophagy - animal [NCBI:83058] [KEGG:hsa04140] [PUBMED:16200202] [PUBMED:15325588] [PUBMED:24343578] [PUBMED:15978794] [PUBMED:19802558] [PUBMED:16099218] [PUBMED:11099404] [PUBMED:19653858] [PUBMED:15325584] [PUBMED:20034776] [PUBMED:15928708] [PUBMED:21801009] [PUBMED:25948417] [PUBMED:16125113] [PUBMED:21187343]
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
Choline metabolism in cancer [NCBI:1059539] [KEGG:hsa05231] [PUBMED:23076158] [PUBMED:19264150] [PUBMED:16230400] [PUBMED:23350810] [PUBMED:22429397] [PUBMED:16432178] [PUBMED:19136975] [PUBMED:22089420] [PUBMED:14517341] [PUBMED:22921309] [PUBMED:19855431] [PUBMED:20528734] [PUBMED:19935796] [PUBMED:14523987] [PUBMED:21793073]
Constitutive Signaling by AKT1 E17K in Cancer [NCBI:1268881] [REACTOME:R-HSA-5674400] [PUBMED:17611497] [PUBMED:18954143]
DAP12 interactions [NCBI:1269283] [REACTOME:R-HSA-2172127] [PUBMED:19120482] [PUBMED:17220916] [PUBMED:9490415] [PUBMED:18192027] [PUBMED:15884055]
DAP12 signaling [NCBI:1269284] [REACTOME:R-HSA-2424491] [PUBMED:15884055] [PUBMED:17110943] [PUBMED:17220916]
Direct p53 effectors [NCBI:137939] [Pathway Interaction Database:p53downstreampathway] [PUBMED:7479001] [PUBMED:19626115] [PUBMED:10692390] [PUBMED:15289308] [PUBMED:14688482] [PUBMED:16301995] [PUBMED:11850816] [PUBMED:12370809] [PUBMED:16260627] [PUBMED:15186775] [PUBMED:15580302] [PUBMED:10748162] [PUBMED:10919640] [PUBMED:19011621] [PUBMED:12438652] [PUBMED:11559530] [PUBMED:11641774] [PUBMED:11971958] [PUBMED:9659898] [PUBMED:9343394] [PUBMED:10716435] [PUBMED:17146433] [PUBMED:17719542] [PUBMED:17938176] [PUBMED:17409421] [PUBMED:11032029] [PUBMED:15781865] [PUBMED:11463392] [PUBMED:9736732] [PUBMED:17268548] [PUBMED:8570655] [PUBMED:18046411] [PUBMED:12944906] [PUBMED:16249378] [PUBMED:15273740] [PUBMED:15598651] [PUBMED:10618379] [PUBMED:15958553] [PUBMED:17189187] [PUBMED:17145718] [PUBMED:11988847] [PUBMED:8119988] [PUBMED:12089322] [PUBMED:16286009] [PUBMED:12890671] [PUBMED:12402042] [PUBMED:10618714] [PUBMED:14730312] [PUBMED:12857899] [PUBMED:14963330] [PUBMED:11278953] [PUBMED:11973653] [PUBMED:12692263] [PUBMED:10984493] [PUBMED:10640990] [PUBMED:11545734] [PUBMED:16151013] [PUBMED:12372430] [PUBMED:16651407] [PUBMED:9891062] [PUBMED:12606722] [PUBMED:12453409] [PUBMED:15377670] [PUBMED:12667443] [PUBMED:17707234] [PUBMED:9920903] [PUBMED:14992722] [PUBMED:15790310] [PUBMED:15831478] [PUBMED:11314010] [PUBMED:10329733] [PUBMED:17264218] [PUBMED:11511362] [PUBMED:11919562] [PUBMED:11814693] [PUBMED:17554199] [PUBMED:18250150] [PUBMED:10518217] [PUBMED:10891498] [PUBMED:10973264] [PUBMED:15077116] [PUBMED:16230375] [PUBMED:18485870] [PUBMED:7796420] [PUBMED:15710382] [PUBMED:17409411] [PUBMED:8319905] [PUBMED:10684646] [PUBMED:7566179] [PUBMED:8887630] [PUBMED:11807984] [PUBMED:9841917] [PUBMED:12654245] [PUBMED:9023107] [PUBMED:15103385] [PUBMED:11684014] [PUBMED:17110336] [PUBMED:11278253] [PUBMED:14576823] [PUBMED:8418500] [PUBMED:11350971] [PUBMED:11840333] [PUBMED:7651818] [PUBMED:7651386] [PUBMED:15378026] [PUBMED:15607964] [PUBMED:11279192] [PUBMED:10777218] [PUBMED:15334053] [PUBMED:12138177] [PUBMED:9619826] [PUBMED:16278683] [PUBMED:17189186] [PUBMED:16140933] [PUBMED:10094469] [PUBMED:9926927] [PUBMED:17719541] [PUBMED:15735003] [PUBMED:12853982] [PUBMED:14707288] [PUBMED:10777207]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases of signal transduction [NCBI:1268855] [REACTOME:R-HSA-5663202] [PUBMED:12509752]
Downstream signal transduction [NCBI:1269479] [REACTOME:R-HSA-186763] [PUBMED:10508235] [PUBMED:9739761]
Downstream signaling events of B Cell Receptor (BCR) [NCBI:1269185] [REACTOME:R-HSA-1168372] [PUBMED:17052215] [PUBMED:19909372]
Energy dependent regulation of mTOR by LKB1-AMPK [NCBI:1269439] [REACTOME:R-HSA-380972] [PUBMED:17613433] [PUBMED:17712357] [PUBMED:17010524]
Fc epsilon receptor (FCERI) signaling [NCBI:1269298] [REACTOME:R-HSA-2454202] [PUBMED:15099567] [PUBMED:21799019]
GAB1 signalosome [NCBI:1269384] [REACTOME:R-HSA-180292] [PUBMED:15550174]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
IGF1R signaling cascade [NCBI:1269618] [REACTOME:R-HSA-2428924] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959]
IRS-mediated signalling [NCBI:1269431] [REACTOME:R-HSA-112399]
IRS-related events triggered by IGF1R [NCBI:1269620] [REACTOME:R-HSA-2428928] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22649417] [PUBMED:18927274] [PUBMED:21042815] [PUBMED:20098959]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Inhibition of TSC complex formation by PKB [NCBI:1269437] [REACTOME:R-HSA-165181]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Insulin receptor signalling cascade [NCBI:1269429] [REACTOME:R-HSA-74751] [PUBMED:9677303] [PUBMED:11282018]
Insulin signaling pathway [NCBI:83090] [KEGG:hsa04910] [PUBMED:11742412] [PUBMED:11343120] [PUBMED:15733744] [PUBMED:11282018] [PUBMED:10196204] [PUBMED:18291668] [PUBMED:9609110] [PUBMED:10567225] [PUBMED:12791379] [PUBMED:9748166] [PUBMED:15624019] [PUBMED:9445476] [PUBMED:9346240] [PUBMED:14635525] [PUBMED:16288289] [PUBMED:12867054] [PUBMED:15229476] [PUBMED:17344645] [PUBMED:9609111]
LKB1 signaling events [NCBI:137957] [Pathway Interaction Database:lkb1_pathway] [PUBMED:12429843] [PUBMED:18339622] [PUBMED:16912160] [PUBMED:15454081] [PUBMED:19513107] [PUBMED:16959574] [PUBMED:11741830] [PUBMED:7706316] [PUBMED:18063805] [PUBMED:14614828] [PUBMED:16306228] [PUBMED:12489981] [PUBMED:19386264] [PUBMED:18439900] [PUBMED:12805220] [PUBMED:17959818] [PUBMED:16396636] [PUBMED:10542369] [PUBMED:16308421] [PUBMED:15016379] [PUBMED:19622832] [PUBMED:14511394] [PUBMED:14676191] [PUBMED:17482548] [PUBMED:17991864] [PUBMED:11445556] [PUBMED:14651849] [PUBMED:14517248] [PUBMED:14985505] [PUBMED:15261145] [PUBMED:16817901] [PUBMED:9108484] [PUBMED:17573348] [PUBMED:12973359] [PUBMED:19369417] [PUBMED:15705853] [PUBMED:10642527] [PUBMED:16627617] [PUBMED:17482549] [PUBMED:8631898] [PUBMED:14976552]
Longevity regulating pathway [NCBI:1319989] [KEGG:hsa04211] [PUBMED:21779512] [PUBMED:23594965] [PUBMED:25654554] [PUBMED:25832544] [PUBMED:24997879] [PUBMED:22618766] [PUBMED:20336132] [PUBMED:24905167] [PUBMED:25601466] [PUBMED:20103737] [PUBMED:18692468] [PUBMED:20395504] [PUBMED:25824609] [PUBMED:17701476] [PUBMED:23939249] [PUBMED:20848587] [PUBMED:22983298] [PUBMED:19262508] [PUBMED:20357764] [PUBMED:18946478] [PUBMED:23061800]
Macroautophagy [NCBI:1270432] [REACTOME:R-HSA-1632852] [PUBMED:24296784]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
NGF signalling via TRKA from the plasma membrane [NCBI:1269460] [REACTOME:R-HSA-187037] [PUBMED:11520933] [PUBMED:12676795] [PUBMED:10851172] [PUBMED:10579918]
PI3K Cascade [NCBI:1269432] [REACTOME:R-HSA-109704]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
PI3K/AKT Signaling in Cancer [NCBI:1268879] [REACTOME:R-HSA-2219528] [PUBMED:20713702] [PUBMED:10555148] [PUBMED:19644473] [PUBMED:17611497] [PUBMED:21478295] [PUBMED:17626883] [PUBMED:16339315] [PUBMED:18317450] [PUBMED:18079394] [PUBMED:9467011] [PUBMED:17604717] [PUBMED:9326929] [PUBMED:18954143] [PUBMED:20009532] [PUBMED:19962665] [PUBMED:21430697] [PUBMED:19487573] [PUBMED:10866302]
PI3K/AKT activation [NCBI:1269473] [REACTOME:R-HSA-198203] [PUBMED:10579926] [PUBMED:12123609]
PIP3 activates AKT signaling [NCBI:1269188] [REACTOME:R-HSA-1257604]
PKB-mediated events [NCBI:1269434] [REACTOME:R-HSA-109703]
Phospholipase D signaling pathway [NCBI:1311074] [KEGG:hsa04072] [PUBMED:9310372] [PUBMED:9119890] [PUBMED:15310762] [PUBMED:18936782] [PUBMED:24990952] [PUBMED:14769825] [PUBMED:21936578] [PUBMED:10666319] [PUBMED:17210675] [PUBMED:19264150] [PUBMED:23076158] [PUBMED:17054901] [PUBMED:16622417] [PUBMED:10807766] [PUBMED:12217395] [PUBMED:11042115] [PUBMED:19815110] [PUBMED:24995811] [PUBMED:16143829] [PUBMED:8135758] [PUBMED:11991733] [PUBMED:19410013] [PUBMED:17245604]
Role of LAT2/NTAL/LAB on calcium mobilization [NCBI:1269302] [REACTOME:R-HSA-2730905] [PUBMED:17993265] [PUBMED:20643813] [PUBMED:17420272]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by EGFR [NCBI:1269380] [REACTOME:R-HSA-177929] [PUBMED:10459005] [PUBMED:10404636] [PUBMED:12297041] [PUBMED:15142631]
Signaling by Insulin receptor [NCBI:1269428] [REACTOME:R-HSA-74752] [PUBMED:8276779]
Signaling by PDGF [NCBI:1269478] [REACTOME:R-HSA-186797] [PUBMED:15207811] [PUBMED:10508235] [PUBMED:9739761]
Signaling by SCF-KIT [NCBI:1269487] [REACTOME:R-HSA-1433557] [PUBMED:17350321] [PUBMED:16483568] [PUBMED:7688988] [PUBMED:19540337] [PUBMED:16475976] [PUBMED:15526160]
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R) [NCBI:1269617] [REACTOME:R-HSA-2404192] [PUBMED:21042815] [PUBMED:18927274] [PUBMED:20098959] [PUBMED:17598937] [PUBMED:20975071] [PUBMED:22044904] [PUBMED:22649417]
Signaling by the B Cell Receptor (BCR) [NCBI:1269183] [REACTOME:R-HSA-983705] [PUBMED:1702903] [PUBMED:2011584] [PUBMED:1081164] [PUBMED:19065780] [PUBMED:16849466] [PUBMED:1375264] [PUBMED:7538118] [PUBMED:11901194] [PUBMED:8580068] [PUBMED:19249086] [PUBMED:18596693] [PUBMED:10648173] [PUBMED:4589993] [PUBMED:8163536] [PUBMED:1376928] [PUBMED:7688784] [PUBMED:6335036] [PUBMED:17052215] [PUBMED:18818202] [PUBMED:20206686] [PUBMED:7592958] [PUBMED:7524079] [PUBMED:15489917] [PUBMED:15509800] [PUBMED:18187424] [PUBMED:7927516] [PUBMED:803528] [PUBMED:19909372] [PUBMED:20192804] [PUBMED:8306975]
Signalling by NGF [NCBI:1269443] [REACTOME:R-HSA-166520]
TBC/RABGAPs [NCBI:1470925] [REACTOME:R-HSA-8854214] [PUBMED:16855591] [PUBMED:22251903]
TP53 Regulates Metabolic Genes [NCBI:1269655] [REACTOME:R-HSA-5628897] [PUBMED:19822145] [PUBMED:12453409] [PUBMED:18344994] [PUBMED:11545734] [PUBMED:16839880] [PUBMED:20399660] [PUBMED:15105503] [PUBMED:13298683] [PUBMED:15665293] [PUBMED:18198340] [PUBMED:18692468] [PUBMED:12203114] [PUBMED:17409411] [PUBMED:11959846] [PUBMED:16728594] [PUBMED:17486094] [PUBMED:23484829] [PUBMED:22682249] [PUBMED:19696408] [PUBMED:9926927] [PUBMED:22864287] [PUBMED:20378837] [PUBMED:18391940] [PUBMED:24366874] [PUBMED:19439913] [PUBMED:15059920] [PUBMED:10716435] [PUBMED:17540029]
Thyroid hormone signaling pathway [NCBI:946598] [KEGG:hsa04919] [PUBMED:20005976] [PUBMED:17983645] [PUBMED:15345678] [PUBMED:16951130] [PUBMED:16214361] [PUBMED:18329679] [PUBMED:20051527] [PUBMED:17574003] [PUBMED:19716314] [PUBMED:19755667] [PUBMED:20868274] [PUBMED:21835053] [PUBMED:16051672] [PUBMED:19295177] [PUBMED:23021374] [PUBMED:22484490]
Transcriptional Regulation by TP53 [NCBI:1269654] [REACTOME:R-HSA-3700989] [PUBMED:26122615] [PUBMED:19410540]
Validated targets of C-MYC transcriptional repression [NCBI:169353] [Pathway Interaction Database:myc_represspathway] [PUBMED:17082179] [PUBMED:11282029] [PUBMED:9869632] [PUBMED:15021909] [PUBMED:16167342] [PUBMED:18056446] [PUBMED:18045875] [PUBMED:1670896] [PUBMED:18393360] [PUBMED:7556187] [PUBMED:11313917] [PUBMED:17471507] [PUBMED:12418961] [PUBMED:9927431] [PUBMED:9924025] [PUBMED:18483244] [PUBMED:14716294] [PUBMED:15506972] [PUBMED:15616584] [PUBMED:12729735] [PUBMED:19219026] [PUBMED:12747840] [PUBMED:2182320] [PUBMED:12545156] [PUBMED:15367674] [PUBMED:11283613] [PUBMED:12384701] [PUBMED:18066065] [PUBMED:18455888] [PUBMED:10920185] [PUBMED:17881732] [PUBMED:20190815] [PUBMED:16352593] [PUBMED:17050536] [PUBMED:11283614] [PUBMED:16391002] [PUBMED:11804592] [PUBMED:7870572] [PUBMED:16940161] [PUBMED:12695333] [PUBMED:17159920] [PUBMED:8972190] [PUBMED:9312026] [PUBMED:17485441] [PUBMED:16288014]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
mTOR signaling pathway [NCBI:83059] [KEGG:hsa04150] [NCBI:138001] [Pathway Interaction Database:mtor_4pathway] [PUBMED:17277771] [PUBMED:15341740] [PUBMED:12172553] [PUBMED:15718470] [PUBMED:14651849] [PUBMED:15268862] [PUBMED:15306821] [PUBMED:26046644] [PUBMED:12869586] [PUBMED:24556838] [PUBMED:17928295] [PUBMED:9427642] [PUBMED:18046414] [PUBMED:12912918] [PUBMED:16286006] [PUBMED:26658722] [PUBMED:24842496] [PUBMED:23465396] [PUBMED:17709744] [PUBMED:17599906] [PUBMED:16919458] [PUBMED:10364159] [PUBMED:15342917] [PUBMED:11500364] [PUBMED:19812304] [PUBMED:12482958] [PUBMED:11729323] [PUBMED:16962653] [PUBMED:18952604] [PUBMED:9465032] [PUBMED:1496022] [PUBMED:10567431] [PUBMED:19114562] [PUBMED:17510057] [PUBMED:18604198] [PUBMED:15545625] [PUBMED:11914378] [PUBMED:17461779] [PUBMED:9445476] [PUBMED:18497260] [PUBMED:12604610] [PUBMED:15071500] [PUBMED:18925875] [PUBMED:12906785] [PUBMED:11287630] [PUBMED:15004009] [PUBMED:16756488] [PUBMED:17043309] [PUBMED:18198340] [PUBMED:12820960] [PUBMED:12747827] [PUBMED:17053147] [PUBMED:15851026] [PUBMED:15467718] [PUBMED:18762023] [PUBMED:25242279] [PUBMED:24698685] [PUBMED:11175345] [PUBMED:27304501] [PUBMED:18411301] [PUBMED:11500365] [PUBMED:17693255] [PUBMED:23694989] [PUBMED:12231510] [PUBMED:19446321] [PUBMED:11418588] [PUBMED:19258318] [PUBMED:18439900] [PUBMED:19225151] [PUBMED:26185979] [PUBMED:10357815] [PUBMED:26269525] [PUBMED:23421405] [PUBMED:9271440] [PUBMED:16915281] [PUBMED:17141160] [PUBMED:15249583] [PUBMED:12912989] [PUBMED:27027448] [PUBMED:18423201] [PUBMED:19211835] [PUBMED:9204908] [PUBMED:26700098] [PUBMED:18566587] [PUBMED:17386266]
mTOR signalling [NCBI:1269436] [REACTOME:R-HSA-165159] [PUBMED:21157483]
p38 signaling mediated by MAPKAP kinases [NCBI:138078] [Pathway Interaction Database:p38_mk2pathway] [PUBMED:10559880] [PUBMED:10779545] [PUBMED:9288946] [PUBMED:12861023] [PUBMED:17481585] [PUBMED:1332886] [PUBMED:9057088] [PUBMED:8887554] [PUBMED:10781029] [PUBMED:11333986] [PUBMED:8626550] [PUBMED:11551945] [PUBMED:8714691] [PUBMED:10318869] [PUBMED:11844797] [PUBMED:7750577] [PUBMED:8995217] [PUBMED:12582162] [PUBMED:15629715]
p53 signaling pathway [NCBI:83055] [KEGG:hsa04115] [PUBMED:16557269] [PUBMED:10714958] [PUBMED:12505356] [PUBMED:16915296] [PUBMED:16697662] [PUBMED:15116721] [PUBMED:11313928] [PUBMED:11747320] [PUBMED:17409411] [PUBMED:15838523]