• Gene id: 7249

Gene Summary

• Gene Symbol: TSC2   Gene   UCSC   Ensembl
• Aliases: LAM, PPP1R160, TSC4
• Gene name: TSC complex subunit 2
• Alternate names: tuberin, protein phosphatase 1, regulatory subunit 160, tuberous sclerosis 2 protein,
• Gene location: 16p13.3 (2047803: 2089490)     Exons: 44     NC_000016.10
• Gene summary(Entrez): 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 ham
• OMIM: 614426

Protein Summary

• Protein general information: P49815  
  • Name: Tuberin (Tuberous sclerosis 2 protein)
  • Length: 1807  
  • Mass: 200608
  • Tissue specificity: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.
• Sequence:

  MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEE
  HAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLRALFFKVIKDYPSNEDLHERLEVFKALTDNG
  RHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAV
  VCYNCLPAESLPLFIVTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVG
  MALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDILLNIIERLLQQLQTL
  DSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALME
  RFFRSESRGAVRIKVLDVLSFVLLINRQFYEEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFN
  SLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKH
  SYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPA
  GPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYKVLIFTSPCSVDQLCSALCSMLSGPKTLERL
  RGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPV
  LVVKLTHISATASMAVPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRC
  RLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNSPPVKEFKESSAAEAF
  RCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEF
  LLAGGRTKTWLVGNKLVTVTTSVGTGTRSLLGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGAR
  DRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVR
  RPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASF
  SSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAE
  ELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDG
  ESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFV
  FLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELAILSNEHGSYRYTEFL
  TGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVY
  NDSGEDFKLGTIKGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQV
  HHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSV
  EDFTEFV

• Structural information:
  • Protein Domains: (1531..175-)
    (/note="Rap-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00165"-)
  • Interpro: IPR016024  IPR035974  IPR000331  IPR003913  IPR018515   IPR027107  IPR024584  
  • Prosite: PS50085
  • STRING: ENSP00000219476
• Other Databases: GeneCards:  TSC2  Malacards:  TSC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043276	anoikis	IGI	biological process
GO:1901525	negative regulation of mitophagy	NAS	biological process
GO:0016239	positive regulation of macroautophagy	IGI	biological process
GO:0032007	negative regulation of TOR signaling	IGI	biological process
GO:0051726	regulation of cell cycle	IBA	biological process
GO:0033596	TSC1-TSC2 complex	IBA	cellular component
GO:0051898	negative regulation of protein kinase B signaling	IBA	biological process
GO:0046627	negative regulation of insulin receptor signaling pathway	IBA	biological process
GO:0032007	negative regulation of TOR signaling	IBA	biological process
GO:0030178	negative regulation of Wnt signaling pathway	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0019902	phosphatase binding	IDA	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0031267	small GTPase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033596	TSC1-TSC2 complex	IEA	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0032007	negative regulation of TOR signaling	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0016032	viral process	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	TAS	biological process
GO:0016192	vesicle-mediated transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005737	cytoplasm	IDA	colocalizes with
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0033596	TSC1-TSC2 complex	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	NOT|cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0051879	Hsp90 protein binding	IPI	molecular function
GO:0048009	insulin-like growth factor receptor signaling pathway	ISS	biological process
GO:0043491	protein kinase B signaling	ISS	biological process
GO:0051898	negative regulation of protein kinase B signaling	ISS	biological process
GO:0050918	positive chemotaxis	ISS	biological process
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0006606	protein import into nucleus	ISS	biological process
GO:0006469	negative regulation of protein kinase activity	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0001843	neural tube closure	ISS	biological process
GO:0046626	regulation of insulin receptor signaling pathway	ISS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0008285	negative regulation of cell population proliferation	ISS	biological process
GO:0030100	regulation of endocytosis	ISS	biological process
GO:0008104	protein localization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014069	postsynaptic density	IDA	cellular component
GO:0014069	postsynaptic density	IDA	cellular component
GO:0014069	postsynaptic density	EXP	cellular component
GO:0014069	postsynaptic density	EXP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04714	Thermogenesis
hsa05163	Human cytomegalovirus infection
hsa04150	mTOR signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04140	Autophagy - animal
hsa04910	Insulin signaling pathway
hsa04218	Cellular senescence
hsa04152	AMPK signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa05231	Choline metabolism in cancer
hsa04211	Longevity regulating pathway
hsa04115	p53 signaling pathway

Diseases

Associated diseases	References
Lymphangioleiomyomatosis	KEGG:H00896
Tuberous sclerosis complex	KEGG:H00915
Renal angiomyolipoma	KEGG:H01691
Subependymal giant cell astrocytoma	KEGG:H01692
Lymphangioleiomyomatosis	KEGG:H00896
Tuberous sclerosis complex	KEGG:H00915
Renal angiomyolipoma	KEGG:H01691
Subependymal giant cell astrocytoma	KEGG:H01692
medulloblastoma	PMID:11603814
Alzheimer's disease	PMID:16341938
leiomyoma	PMID:21145542
Tuberous sclerosis	PMID:9007104
Tuberous sclerosis	PMID:16114042
Breast cancer	PMID:15951164
Angiomyolipoma	PMID:19265534
Hepatic angiomyolipoma	PMID:22251200
Lymphangioleiomyomatosis	PMID:10823953
pancreatic ductal carcinoma	PMID:16213898
hepatocellular carcinoma	PMID:24119083
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq