TSC2 - Gene info - The Human Protein Atlas

Gene name

TSC2 (HGNC Symbol)

Synonyms

LAM, 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

Cytoband

p13.3

Chromosome location (bp)

2097466 - 2138716

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000103197 (version 75.37)

Entrez gene

7249

UniProt

P49815 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TSC2-001

ENSP00000219476
ENST00000219476

P49815
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P49815 [Direct mapping]
Tuberin

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   1TM proteins predicted by MDM
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
   COSMIC Somatic Mutations
   COSMIC Splicing Mutations
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   SCAMPI predicted membrane proteins
   Phobius predicted membrane proteins
   MEMSAT3 predicted membrane proteins
   Membrane proteins predicted by MDM
Predicted membrane proteins
   Prediction method-based
   # TM segments-based
Plasma proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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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:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005901 [caveola]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0006953 [acute-phase response]
GO:0007050 [cell cycle arrest]
GO:0007165 [signal transduction]
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:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030030 [cell projection organization]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
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:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043491 [protein kinase B signaling cascade]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045121 [membrane raft]
GO:0045184 [establishment of protein localization]
GO:0045792 [negative regulation of cell size]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046982 [protein heterodimerization activity]
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:0050680 [negative regulation of epithelial cell proliferation]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
GO:0071889 [14-3-3 protein binding]

1807

200.6

TSC2-002

ENSP00000406980
ENST00000439117

Q5HYF7
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Q5HYF7 [Target identity:100%; Query identity:100%]
Putative uncharacterized protein DKFZp686N1252; Tuberin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Large Deletions
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
   COSMIC Somatic Mutations
   COSMIC Splicing Mutations
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005096 [GTPase activator activity]
GO:0005634 [nucleus]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]

108

11.8

TSC2-003

ENSP00000384468
ENST00000401874

P49815
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P49815 [Direct mapping]
Tuberin

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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:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005901 [caveola]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0006953 [acute-phase response]
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:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030030 [cell projection organization]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
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:0043025 [neuronal cell body]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043491 [protein kinase B signaling cascade]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045792 [negative regulation of cell size]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046982 [protein heterodimerization activity]
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:0050680 [negative regulation of epithelial cell proliferation]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
GO:0071889 [14-3-3 protein binding]

1740

193.2

TSC2-004

ENSP00000344383
ENST00000350773

P49815
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P49815 [Direct mapping]
Tuberin

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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:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005901 [caveola]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0006953 [acute-phase response]
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:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030030 [cell projection organization]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
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:0043025 [neuronal cell body]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043491 [protein kinase B signaling cascade]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045792 [negative regulation of cell size]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046982 [protein heterodimerization activity]
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:0050680 [negative regulation of epithelial cell proliferation]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
GO:0071889 [14-3-3 protein binding]

1784

198.1

TSC2-006

ENSP00000454487
ENST00000568454

H3BMQ0
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H3BMQ0 [Target identity:100%; Query identity:100%]
Tuberin

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   1TM proteins predicted by MDM
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
   COSMIC Splicing Mutations
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   SCAMPI predicted membrane proteins
   Phobius predicted membrane proteins
   MEMSAT3 predicted membrane proteins
   Membrane proteins predicted by MDM
Predicted membrane proteins
   Prediction method-based
   # TM segments-based
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005634 [nucleus]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0051056 [regulation of small GTPase mediated signal transduction]

1751

194.4

TSC2-007

ENSP00000371978
ENST00000382538

B4DIL8
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B4DIL8 [Target identity:100%; Query identity:100%]
Tuberin; cDNA FLJ59538, highly similar to Tuberin

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GO:0005096 [GTPase activator activity]
GO:0005488 [binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]
GO:0043547 [positive regulation of GTPase activity]
GO:0051056 [regulation of small GTPase mediated signal transduction]

1692

188

TSC2-009

ENSP00000454997
ENST00000467949

H3BNT5
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H3BNT5 [Target identity:100%; Query identity:100%]
Tuberin

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   1TM proteins predicted by MDM
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
   COSMIC Splicing Mutations
   THUMBUP predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   SCAMPI predicted membrane proteins
   MEMSAT3 predicted membrane proteins
   Membrane proteins predicted by MDM
Predicted membrane proteins
   Prediction method-based
   # TM segments-based
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

Show » « Hide

GO:0005096 [GTPase activator activity]
GO:0005634 [nucleus]
GO:0032007 [negative regulation of TOR signaling]
GO:0033596 [TSC1-TSC2 complex]

196

TSC2-014

ENSP00000458541
ENST00000471143

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Large Deletions
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
   COSMIC Somatic Mutations
   COSMIC Splicing Mutations
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

3.1

TSC2-015

ENSP00000460310
ENST00000483020

I3L3B1
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I3L3B1 [Target identity:100%; Query identity:100%]
Tuberin

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   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Large Deletions
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
   COSMIC Somatic Mutations
   COSMIC Splicing Mutations
   SPOCTOPUS predicted secreted proteins
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

3.6

TSC2-017

ENSP00000399232
ENST00000439673

P49815
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P49815 [Direct mapping]
Tuberin

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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:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005901 [caveola]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0006953 [acute-phase response]
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:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030030 [cell projection organization]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
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:0043025 [neuronal cell body]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043491 [protein kinase B signaling cascade]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045792 [negative regulation of cell size]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046982 [protein heterodimerization activity]
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:0050680 [negative regulation of epithelial cell proliferation]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
GO:0071889 [14-3-3 protein binding]

1704

189.3

TSC2-019

ENSP00000455817
ENST00000569110

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GO:0005096 [GTPase activator activity]
GO:0051056 [regulation of small GTPase mediated signal transduction]

535

58.6

TSC2-020

ENSP00000387937
ENST00000432909

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   SCAMPI predicted membrane proteins
   TMHMM predicted membrane proteins
   COSMIC Frameshift Mutations
   COSMIC Germline Mutations
   COSMIC Large Deletions
   COSMIC Missense Mutations
   COSMIC Nonsense Mutations
   COSMIC Somatic Mutations
   COSMIC Splicing Mutations
Cancer-related genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

125

14.1

TSC2-021

ENSP00000455997
ENST00000568566

H3BQY7
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H3BQY7 [Target identity:100%; Query identity:100%]
Tuberin

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3.6

TSC2-201

ENSP00000248099
ENST00000353929

P49815
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P49815 [Direct mapping]
Tuberin

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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:0005794 [Golgi apparatus]
GO:0005829 [cytosol]
GO:0005901 [caveola]
GO:0006469 [negative regulation of protein kinase activity]
GO:0006606 [protein import into nucleus]
GO:0006897 [endocytosis]
GO:0006953 [acute-phase response]
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:0014065 [phosphatidylinositol 3-kinase signaling]
GO:0014067 [negative regulation of phosphatidylinositol 3-kinase signaling]
GO:0016020 [membrane]
GO:0016192 [vesicle-mediated transport]
GO:0019902 [phosphatase binding]
GO:0030030 [cell projection organization]
GO:0030100 [regulation of endocytosis]
GO:0030178 [negative regulation of Wnt signaling pathway]
GO:0030425 [dendrite]
GO:0030426 [growth cone]
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:0043025 [neuronal cell body]
GO:0043407 [negative regulation of MAP kinase activity]
GO:0043491 [protein kinase B signaling cascade]
GO:0043547 [positive regulation of GTPase activity]
GO:0045087 [innate immune response]
GO:0045792 [negative regulation of cell size]
GO:0046626 [regulation of insulin receptor signaling pathway]
GO:0046982 [protein heterodimerization activity]
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:0050680 [negative regulation of epithelial cell proliferation]
GO:0050918 [positive chemotaxis]
GO:0051056 [regulation of small GTPase mediated signal transduction]
GO:0051260 [protein homooligomerization]
GO:0051291 [protein heterooligomerization]
GO:0051726 [regulation of cell cycle]
GO:0051898 [negative regulation of protein kinase B signaling]
GO:0071889 [14-3-3 protein binding]

1764

195.8

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