TSC2 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
endothelial cell	7 studies	29% ± 14%	Explore
astrocyte	7 studies	23% ± 9%	Explore
ciliated cell	5 studies	24% ± 8%	Explore
epithelial cell	5 studies	35% ± 11%	Explore
amacrine cell	4 studies	21% ± 3%	Explore
interneuron	4 studies	27% ± 13%	Explore
oligodendrocyte precursor cell	4 studies	22% ± 6%	Explore
glutamatergic neuron	4 studies	38% ± 14%	Explore
oligodendrocyte	4 studies	22% ± 5%	Explore
retina horizontal cell	3 studies	16% ± 0%	Explore
basal cell	3 studies	29% ± 13%	Explore
GABAergic neuron	3 studies	36% ± 7%	Explore
neuron	3 studies	26% ± 5%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
brain	5 studies	33% ± 8%	Explore
peripheral blood	3 studies	20% ± 3%	Explore
intestine	3 studies	19% ± 4%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
esophagus	100%	7032.53	1445 / 1445	100%	20.82	183 / 183
prostate	100%	9536.44	245 / 245	100%	19.24	502 / 502
thymus	100%	12563.75	653 / 653	100%	23.95	604 / 605
ovary	100%	10577.48	180 / 180	100%	27.13	429 / 430
stomach	100%	6829.52	359 / 359	100%	16.81	285 / 286
intestine	100%	8025.45	966 / 966	100%	16.65	525 / 527
uterus	100%	10051.64	170 / 170	100%	17.40	457 / 459
skin	100%	6725.21	1809 / 1809	99%	19.47	469 / 472
breast	100%	7356.12	459 / 459	99%	18.63	1109 / 1118
pancreas	100%	5011.95	327 / 328	99%	15.15	177 / 178
bladder	100%	7987.48	21 / 21	99%	13.78	498 / 504
brain	98%	7065.46	2599 / 2642	100%	23.24	703 / 705
lung	100%	6811.70	578 / 578	98%	15.55	1132 / 1155
kidney	100%	6957.31	89 / 89	98%	13.31	883 / 901
adrenal gland	100%	6156.47	258 / 258	97%	20.83	224 / 230
liver	100%	4007.84	226 / 226	91%	9.98	369 / 406
adipose	100%	6274.16	1204 / 1204	0%	0	0 / 0
blood vessel	100%	6922.09	1335 / 1335	0%	0	0 / 0
eye	0%	0	0 / 0	100%	20.78	80 / 80
lymph node	0%	0	0 / 0	100%	12.43	29 / 29
muscle	100%	6469.95	803 / 803	0%	0	0 / 0
spleen	100%	8248.60	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	20.97	45 / 45
ureter	0%	0	0 / 0	100%	8.75	1 / 1
heart	98%	4402.89	848 / 861	0%	0	0 / 0
peripheral blood	93%	3008.59	860 / 929	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_0008285	Biological process	negative regulation of cell population proliferation
GO_0006469	Biological process	negative regulation of protein kinase activity
GO_0006897	Biological process	endocytosis
GO_0007507	Biological process	heart development
GO_0050918	Biological process	positive chemotaxis
GO_0048009	Biological process	insulin-like growth factor receptor signaling pathway
GO_0051056	Biological process	regulation of small GTPase mediated signal transduction
GO_0032007	Biological process	negative regulation of TOR signaling
GO_0043276	Biological process	anoikis
GO_0046627	Biological process	negative regulation of insulin receptor signaling pathway
GO_0009267	Biological process	cellular response to starvation
GO_0051898	Biological process	negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
GO_0030178	Biological process	negative regulation of Wnt signaling pathway
GO_0016192	Biological process	vesicle-mediated transport
GO_1901525	Biological process	negative regulation of mitophagy
GO_0016239	Biological process	positive regulation of macroautophagy
GO_0006606	Biological process	protein import into nucleus
GO_0001843	Biological process	neural tube closure
GO_0043491	Biological process	phosphatidylinositol 3-kinase/protein kinase B signal transduction
GO_0030100	Biological process	regulation of endocytosis
GO_0008104	Biological process	protein localization
GO_1904262	Biological process	negative regulation of TORC1 signaling
GO_0046626	Biological process	regulation of insulin receptor signaling pathway
GO_0051726	Biological process	regulation of cell cycle
GO_0048471	Cellular component	perinuclear region of cytoplasm
GO_0016020	Cellular component	membrane
GO_0005764	Cellular component	lysosome
GO_0005794	Cellular component	Golgi apparatus
GO_0033596	Cellular component	TSC1-TSC2 complex
GO_0005829	Cellular component	cytosol
GO_0014069	Cellular component	postsynaptic density
GO_0005737	Cellular component	cytoplasm
GO_0005765	Cellular component	lysosomal membrane
GO_0005634	Cellular component	nucleus
GO_0042803	Molecular function	protein homodimerization activity
GO_0051879	Molecular function	Hsp90 protein binding
GO_0031267	Molecular function	small GTPase binding
GO_0005096	Molecular function	GTPase activator activity
GO_0019902	Molecular function	phosphatase binding
GO_0005515	Molecular function	protein binding

IV. Literature review

[source]

Gene name	TSC2
Protein name	Tuberous sclerosis 2 isoform P Tuberous sclerosis 2 isoform E Tuberous sclerosis 2 isoform K Tuberous sclerosis 2 isoform L Tuberous sclerosis 2 isoform B Tuberous sclerosis 2 isoform F Tuberin (Tuberous sclerosis 2 protein) Tuberous sclerosis 2 isoform N Tuberous sclerosis 2 isoform M Tuberous sclerosis 2 isoform D Tuberous sclerosis 2 isoform G Tuberous sclerosis 2 isoform J TSC complex subunit 2 (Tuberous sclerosis 2 isoform C) Tuberin TSC complex subunit 2 Tuberous sclerosis 2 isoform O
Synonyms	TSC4 DKFZp686N1252
Description	FUNCTION: Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth . Within the TSC-TBC complex, TSC2 acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 . In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling . The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 . Involved in microtubule-mediated protein transport via its ability to regulate mTORC1 signaling (By similarity). Also stimulates the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 (By similarity). .
Accessions	A0A2R8YGE6 I3L134 X5D9F9 A0A2R8Y5F1 A0A1V1FGH9 A0A2R8YGD6 X5D9K3 A0A1V1G0E9 A0A2R8Y5B2 A0A2R8Y7X5 A0A1V1FNX1 ENST00000568454.6 A0A2R8YEJ8 ENST00000644329.1 ENST00000401874.7 [P49815-5] ENST00000350773.9 [P49815-4] A0A2R8YDZ2 ENST00000646464.2 ENST00000382538.10 [P49815-7] A0A1V1FK96 X5DRA7 Q5HYF7 ENST00000646388.1 A0A1V1FWL6 X5D9P6 H3BMQ0 P49815 ENST00000644043.1 [P49815-2] ENST00000644335.1 I3L3B1 ENST00000642936.1 [P49815-3] X5D2U8 X5D7T9 X5DP08 X5DP61 A0A2R8Y692 H3BQY7 ENST00000439117.6 ENST00000644417.2 A0A2R8Y670 H3BQK4 ENST00000642797.1 A0A1V1FR23 ENST00000219476.9 [P49815-1] A0A2R8Y6C9 ENST00000644135.1 ENST00000643088.1 ENST00000643946.1 ENST00000569110.2 ENST00000644399.1 X5D7Q2 ENST00000471143.6 ENST00000643298.1 A0A2R8YGU4 ENST00000439673.6 [P49815-6] A0A2R8YCR8 ENST00000642206.2 X5DRC8 A0A2R8YDR3 ENST00000643745.1 ENST00000642365.2 A0A1V1G0D9 ENST00000645186.1 A0A2R8YHA2 A0A386NCL5 X5D9D6 A0A1V1FWM5 ENST00000568566.6 A0A2R8Y7C8 A0A1V1FNX9 ENST00000483020.5 ENST00000642561.1 A0A1V1FFQ4 A0A1V1FTF4 X5D7Z6 X5D2X0 A0A1V1FI06 X5D7S4 A0A2Z3J2W5

TSC2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review