HUMAN:TSC2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	TSC2 (synonyms: TSC4)
Protein Name(s)	Tuberin Tuberous sclerosis 2 protein
External Links
UniProt	P49815
EMBL	X75621 L48546 L48517 L48518 L48519 L48521 L48522 L48523 L48524 L48525 L48526 L48527 L48528 L48529 L48530 L48531 L48532 L48533 L48534 L48535 L48536 L48537 L48538 L48539 L48540 L48541 L48542 L48543 L48544 L48545 KJ535038 KJ535051 AK294548 AK295672 AK295728 AK299343 AB210000 AC005600 AC093513 CH471112 BC150300 BC025364 BC046929 AB014460
CCDS	CCDS10458.1 CCDS45384.1 CCDS58408.1
PIR	A49420
RefSeq	NP_000539.2 NP_001070651.1 NP_001107854.1
UniGene	Hs.90303
ProteinModelPortal	P49815
SMR	P49815
BioGrid	113100
IntAct	P49815
MINT	MINT-250244
STRING	9606.ENSP00000219476
PhosphoSite	P49815
DMDM	269849475
MaxQB	P49815
PaxDb	P49815
PRIDE	P49815
Ensembl	ENST00000219476 ENST00000350773 ENST00000382538 ENST00000401874 ENST00000439673
GeneID	7249
KEGG	hsa:7249
UCSC	uc002con.3 uc002coo.3 uc002cop.3 uc010bsd.3 uc010uvv.2
CTD	7249
GeneCards	GC16P002097
GeneReviews	TSC2
HGNC	HGNC:12363
HPA	CAB002225 HPA030409 HPA049679
MIM	191092 606690 613254
neXtProt	NX_P49815
Orphanet	88924 538 805
PharmGKB	PA37035
eggNOG	NOG290929
GeneTree	ENSGT00390000017866
HOVERGEN	HBG018005
InParanoid	P49815
KO	K07207
OMA	VDKHRCD
OrthoDB	EOG7KM5S3
PhylomeDB	P49815
TreeFam	TF324484
Reactome	REACT_12564 REACT_147727 REACT_21393 REACT_6743
SignaLink	P49815
GeneWiki	TSC2
GenomeRNAi	7249
NextBio	28347
PRO	PR:P49815
Proteomes	UP000005640
Bgee	P49815
CleanEx	HS_TSC2
ExpressionAtlas	P49815
Genevestigator	P49815
GO	GO:0005901 GO:0005737 GO:0005856 GO:0005829 GO:0030425 GO:0005794 GO:0030426 GO:0016020 GO:0043025 GO:0005634 GO:0048471 GO:0033596 GO:0005096 GO:0019902 GO:0042803 GO:0006953 GO:0007050 GO:0030030 GO:0006897 GO:0007173 GO:0038095 GO:0008543 GO:0007507 GO:0045087 GO:0008286 GO:0048009 GO:0008285 GO:0045792 GO:0050680 GO:0046627 GO:0043407 GO:0014067 GO:0006469 GO:0051898 GO:0032007 GO:0030178 GO:0001843 GO:0048011 GO:0014065 GO:0048015 GO:0050918 GO:0032320 GO:0051291 GO:0051260 GO:0006606 GO:0043491 GO:0008104 GO:0051726 GO:0030100 GO:0046626 GO:0001666 GO:0016192
Gene3D	1.25.10.10
InterPro	IPR011989 IPR016024 IPR000331 IPR003913 IPR018515 IPR024584
PANTHER	PTHR10063:SF1
Pfam	PF11864 PF02145 PF03542
PRINTS	PR01431
SUPFAM	SSF48371
PROSITE	PS50085

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0051879	Hsp90 protein binding	PMID:29127155^[1]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P07900,UniProtKB:Q92574	F		Seeded From UniProt	complete
involved_in	GO:0032007	negative regulation of TOR signaling	PMID:23778976^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q61037	P	part_of:(GO:0043276)	Seeded From UniProt	complete
involved_in	GO:0043276	anoikis	PMID:23778976^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0016239	positive regulation of macroautophagy	PMID:23778976^[2]	ECO:0000316	genetic interaction evidence used in manual assertion	UniProtKB:Q61037	P	part_of:(GO:0043276)	Seeded From UniProt	complete
involved_in	GO:1901525	negative regulation of mitophagy	PMID:26735435^[3]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005764	lysosome	PMID:25936802^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0031267	small GTPase binding	PMID:25936802^[4]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:Q7L523	F		Seeded From UniProt	complete
involved_in	GO:0051898	negative regulation of protein kinase B signaling	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0050918	positive chemotaxis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
part_of	GO:0048471	perinuclear region of cytoplasm	PMID:8806680^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0048009	insulin-like growth factor receptor signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0046626	regulation of insulin receptor signaling pathway	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0043491	protein kinase B signaling	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
enables	GO:0042803	protein homodimerization activity	PMID:10585443^[6]	ECO:0000353	physical interaction evidence used in manual assertion	UniProtKB:P49815	F		Seeded From UniProt	complete
part_of	GO:0033596	TSC1-TSC2 complex	PMID:9580671^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0030100	regulation of endocytosis	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
enables	GO:0019902	phosphatase binding	PMID:19389623^[8]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0016020	membrane	PMID:16636147^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
involved_in	GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0008285	negative regulation of cell population proliferation	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0008104	protein localization	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0007507	heart development	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0006606	protein import into nucleus	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
involved_in	GO:0006469	negative regulation of protein kinase activity	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:10585443^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005794	Golgi apparatus	PMID:8806680^[5]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
NOT\|part_of	GO:0005794	Golgi apparatus	PMID:10585443^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:16636147^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:9580671^[7]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
colocalizes_with	GO:0005737	cytoplasm	PMID:17114346^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
NOT\|part_of	GO:0005634	nucleus	PMID:16636147^[9]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:17114346^[10]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	PMID:9045618^[11]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0001843	neural tube closure	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q61037	P		Seeded From UniProt	complete
part_of	GO:0014069	postsynaptic density	PMID:27898073^[12]	ECO:0006042	cell fractionation evidence used in manual assertion		C	part_of:(UBERON:0000955)	Seeded From UniProt	complete
part_of	GO:0014069	postsynaptic density	PMID:27898073^[12]	ECO:0006042	cell fractionation evidence used in manual assertion		C	part_of:(UBERON:0000061) part_of:(UBERON:0000956)	Seeded From UniProt	complete
part_of	GO:0014069	postsynaptic density	PMID:27898073^[12]	ECO:0001230	mass spectrometry evidence used in manual assertion		C	part_of:(UBERON:0000955)	Seeded From UniProt	complete
part_of	GO:0014069	postsynaptic density	PMID:27898073^[12]	ECO:0001230	mass spectrometry evidence used in manual assertion		C	part_of:(UBERON:0000061) part_of:(UBERON:0000956)	Seeded From UniProt	complete
involved_in	GO:0051898	negative regulation of protein kinase B signaling	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:102548 PANTHER:PTN000006943	P		Seeded From UniProt	complete
involved_in	GO:0051726	regulation of cell cycle	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0005198 PANTHER:PTN000006943	P		Seeded From UniProt	complete
involved_in	GO:0046627	negative regulation of insulin receptor signaling pathway	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0005198 PANTHER:PTN000006943	P		Seeded From UniProt	complete
part_of	GO:0033596	TSC1-TSC2 complex	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0005198 PANTHER:PTN000006942 PomBase:SPAC630.13c UniProtKB:P49815	C		Seeded From UniProt	complete
involved_in	GO:0032007	negative regulation of TOR signaling	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0005198 MGI:MGI:102548 PANTHER:PTN000006942 RGD:3908 UniProtKB:A0A0G2KHX4 UniProtKB:P49815	P		Seeded From UniProt	complete
involved_in	GO:0030178	negative regulation of Wnt signaling pathway	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000006943 RGD:3908	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0005198 MGI:MGI:102548 MGI:MGI:1931050 PANTHER:PTN000006939 UniProtKB:P49815 UniProtKB:Q2PPJ7	C		Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	PMID:21873635^[13]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0005198 MGI:MGI:3036245 PANTHER:PTN000006939 PomBase:SPAC630.13c RGD:1308023 RGD:3908 UniProtKB:P49815 UniProtKB:P86409	F		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000331 InterPro:IPR003913 InterPro:IPR018515 InterPro:IPR027107 InterPro:IPR035974	F		Seeded From UniProt	complete
involved_in	GO:0032007	negative regulation of TOR signaling	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003913	P		Seeded From UniProt	complete
part_of	GO:0033596	TSC1-TSC2 complex	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003913	C		Seeded From UniProt	complete
involved_in	GO:0043547	positive regulation of GTPase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR003913 InterPro:IPR018515 InterPro:IPR027107	P		Seeded From UniProt	complete
involved_in	GO:0051056	regulation of small GTPase mediated signal transduction	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR000331 InterPro:IPR035974	P		Seeded From UniProt	complete
involved_in	GO:0016192	vesicle-mediated transport	PMID:9045618^[11]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006897	endocytosis	PMID:9045618^[11]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	Reactome:R-HSA-8854302 Reactome:R-HSA-5632732 Reactome:R-HSA-380927 Reactome:R-HSA-2399982 Reactome:R-HSA-198609 Reactome:R-HSA-165182 Reactome:R-HSA-165179 Reactome:R-HSA-165162	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0016020	membrane	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0472 UniProtKB-SubCell:SL-0162	C		Seeded From UniProt	complete
enables	GO:0005096	GTPase activator activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0343	F		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
involved_in	GO:0016032	viral process	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0945	P		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Woodford, MR et al. (2017) Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. EMBO J. 36 3650-3665 PubMed GONUTS page
↑ ^2.0 ^2.1 ^2.2 Chen, N & Debnath, J (2013) IκB kinase complex (IKK) triggers detachment-induced autophagy in mammary epithelial cells independently of the PI3K-AKT-MTORC1 pathway. Autophagy 9 1214-27 PubMed GONUTS page
↑ Wei, FZ et al. (2015) Epigenetic regulation of autophagy by the methyltransferase EZH2 through an MTOR-dependent pathway. Autophagy 11 2309-22 PubMed GONUTS page
↑ ^4.0 ^4.1 Deng, L et al. (2015) The ubiquitination of rag A GTPase by RNF152 negatively regulates mTORC1 activation. Mol. Cell 58 804-18 PubMed GONUTS page
↑ ^5.0 ^5.1 Wienecke, R et al. (1996) Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus. Oncogene 13 913-23 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 Nellist, M et al. (1999) Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. J. Biol. Chem. 274 35647-52 PubMed GONUTS page
↑ ^7.0 ^7.1 van Slegtenhorst, M et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Mol. Genet. 7 1053-7 PubMed GONUTS page
↑ Hendrickx, A et al. (2009) Docking motif-guided mapping of the interactome of protein phosphatase-1. Chem. Biol. 16 365-71 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Cai, SL et al. (2006) Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning. J. Cell Biol. 173 279-89 PubMed GONUTS page
↑ ^10.0 ^10.1 York, B et al. (2006) Tuberin nuclear localization can be regulated by phosphorylation of its carboxyl terminus. Mol. Cancer Res. 4 885-97 PubMed GONUTS page
↑ ^11.0 ^11.1 ^11.2 Xiao, GH et al. (1997) The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J. Biol. Chem. 272 6097-100 PubMed GONUTS page
↑ ^12.0 ^12.1 ^12.2 ^12.3 Föcking, M et al. (2016) Proteomic analysis of the postsynaptic density implicates synaptic function and energy pathways in bipolar disorder. Transl Psychiatry 6 e959 PubMed GONUTS page
↑ ^13.0 ^13.1 ^13.2 ^13.3 ^13.4 ^13.5 ^13.6 ^13.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:29127155-1] Woodford, MR et al. (2017) Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients. EMBO J. 36 3650-3665 PubMed GONUTS page

[PMID:23778976-2] 2.0 ^2.1 ^2.2 Chen, N & Debnath, J (2013) IκB kinase complex (IKK) triggers detachment-induced autophagy in mammary epithelial cells independently of the PI3K-AKT-MTORC1 pathway. Autophagy 9 1214-27 PubMed GONUTS page

[PMID:26735435-3] Wei, FZ et al. (2015) Epigenetic regulation of autophagy by the methyltransferase EZH2 through an MTOR-dependent pathway. Autophagy 11 2309-22 PubMed GONUTS page

[PMID:25936802-4] 4.0 ^4.1 Deng, L et al. (2015) The ubiquitination of rag A GTPase by RNF152 negatively regulates mTORC1 activation. Mol. Cell 58 804-18 PubMed GONUTS page

[PMID:8806680-5] 5.0 ^5.1 Wienecke, R et al. (1996) Co-localization of the TSC2 product tuberin with its target Rap1 in the Golgi apparatus. Oncogene 13 913-23 PubMed GONUTS page

[PMID:10585443-6] 6.0 ^6.1 ^6.2 Nellist, M et al. (1999) Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. J. Biol. Chem. 274 35647-52 PubMed GONUTS page

[PMID:9580671-7] 7.0 ^7.1 van Slegtenhorst, M et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum. Mol. Genet. 7 1053-7 PubMed GONUTS page

[PMID:19389623-8] Hendrickx, A et al. (2009) Docking motif-guided mapping of the interactome of protein phosphatase-1. Chem. Biol. 16 365-71 PubMed GONUTS page

[PMID:16636147-9] 9.0 ^9.1 ^9.2 Cai, SL et al. (2006) Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning. J. Cell Biol. 173 279-89 PubMed GONUTS page

[PMID:17114346-10] 10.0 ^10.1 York, B et al. (2006) Tuberin nuclear localization can be regulated by phosphorylation of its carboxyl terminus. Mol. Cancer Res. 4 885-97 PubMed GONUTS page

[PMID:9045618-11] 11.0 ^11.1 ^11.2 Xiao, GH et al. (1997) The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J. Biol. Chem. 272 6097-100 PubMed GONUTS page

[PMID:27898073-12] 12.0 ^12.1 ^12.2 ^12.3 Föcking, M et al. (2016) Proteomic analysis of the postsynaptic density implicates synaptic function and energy pathways in bipolar disorder. Transl Psychiatry 6 e959 PubMed GONUTS page

[PMID:21873635-13] 13.0 ^13.1 ^13.2 ^13.3 ^13.4 ^13.5 ^13.6 ^13.7 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:TSC2

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