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TSC2

CANCER ATLAS

Gene description

 Tuberous sclerosis 2

Protein class

 Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA030409
CAB002225

GENE INFORMATION

Gene name

 TSC2 (HGNC Symbol)

Synonyms

 LAM, PPP1R160, TSC4, tuberin

Description

 Tuberous sclerosis 2 (HGNC Symbol)

Entrez gene summary

 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

Cytoband

 p13.3

Chromosome location (bp)

 2047465 - 2088720

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000103197 (version 83.38)

Entrez gene

 7249

UniProt

 P49815 (UniProt - Evidence at protein level)

neXtProt

 NX_P49815

Antibodypedia

 TSC2 antibodies

PROTEIN BROWSER
TSC2-001
TSC2-003
TSC2-004
TSC2-006
TSC2-007
TSC2-009
TSC2-017
TSC2-019
TSC2-020

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TSC2-001
ENSP00000219476
ENST00000219476
P49815 [Direct mapping]
Tuberin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0001843 [neural tube closure]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0007050 [cell cycle arrest]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007507 [heart development]
GO:0008104 [protein localization]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0010467 [gene expression]
GO:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0031267 [small GTPase binding]
GO:0032007 [negative regulation of TOR signaling]
GO:0032869 [cellular response to insulin stimulus]
GO:0033596 [TSC1-TSC2 complex]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0043491 [protein kinase B signaling]
GO:0043547 [positive regulation of GTPase activity]
GO:0044861 [protein transport into plasma membrane raft]
GO:0045087 [innate immune response]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046323 [glucose import]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0048009 [insulin-like growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
GO:0071889 [14-3-3 protein binding]
Show all
 1807 aa
200.6 kDa 		No 1
TSC2-003
ENSP00000384468
ENST00000401874
P49815 [Direct mapping]
Tuberin
X5D7Q2 [Target identity:100%; Query identity:100%]
Tuberous sclerosis 2 isoform D
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0007050 [cell cycle arrest]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007507 [heart development]
GO:0008104 [protein localization]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0010467 [gene expression]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0031267 [small GTPase binding]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0043491 [protein kinase B signaling]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0048009 [insulin-like growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 1740 aa
193.2 kDa 		No 1
TSC2-004
ENSP00000344383
ENST00000350773
P49815 [Direct mapping]
Tuberin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0007050 [cell cycle arrest]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007507 [heart development]
GO:0008104 [protein localization]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0010467 [gene expression]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0031267 [small GTPase binding]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0043491 [protein kinase B signaling]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0048009 [insulin-like growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 1784 aa
198.1 kDa 		No 1
TSC2-006
ENSP00000454487
ENST00000568454
H3BMQ0 [Direct mapping]
Tuberin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005737 [cytoplasm]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 1751 aa
194.4 kDa 		No 1
TSC2-007
ENSP00000371978
ENST00000382538
P49815 [Direct mapping]
Tuberin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0007050 [cell cycle arrest]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007507 [heart development]
GO:0008104 [protein localization]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0010467 [gene expression]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0031267 [small GTPase binding]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0043491 [protein kinase B signaling]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0048009 [insulin-like growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 1692 aa
188 kDa 		No 1
TSC2-009
ENSP00000454997
ENST00000467949
H3BNT5 [Direct mapping]
Tuberin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 196 aa
22 kDa 		No 1
TSC2-017
ENSP00000399232
ENST00000439673
P49815 [Direct mapping]
Tuberin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001843 [neural tube closure]
GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005764 [lysosome]
GO:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0007050 [cell cycle arrest]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007507 [heart development]
GO:0008104 [protein localization]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0010467 [gene expression]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016032 [viral process]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0031267 [small GTPase binding]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042803 [protein homodimerization activity]
GO:0043491 [protein kinase B signaling]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0048009 [insulin-like growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048015 [phosphatidylinositol-mediated signaling]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 1704 aa
189.3 kDa 		No 1
TSC2-019
ENSP00000455817
ENST00000569110
H3BQK4 [Direct mapping]
Tuberin
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005096 [GTPase activator activity]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 535 aa
58.6 kDa 		No 0
TSC2-020
ENSP00000387937
ENST00000432909
C9JX95 [Direct mapping]
Tuberin
Show all
   SCAMPI predicted membrane proteins
   TMHMM predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0032007 [negative regulation of TOR signaling]
GO:0043547 [positive regulation of GTPase activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
Show all
 125 aa
14.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.