Tsc2 tuberous sclerosis 2 [Rattus norvegicus] - Gene

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Summary

Official Symbol: Tsc2provided by RGD
Official Full Name: tuberous sclerosis 2provided by RGD
Primary source: RGD:3908
See related: Ensembl:ENSRNOG00000011375
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Rattus
Also known as: Rc
Summary: acts as a tumor suppressor; may play a role in cell cycle regulation; acute phase response, and negative regulation of cell proliferation [RGD, Feb 2006]
Annotation information: Annotation category: partial on reference assembly

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Genomic context

Location :: 10q12

Sequence :: Chromosome: 10; NC_005109.2 (13848210..13883189, complement)

See Tsc2 in MapViewer

Chromosome 10 - NC_005109.2 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Our study shows that Tsc2 haploinsufficiency and developmental status epilepticus in wild-type and Tsc2 (+/-) rats independently lead to autistic-like social deficit behaviors.
Title: Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats.
Data demonstrate that mTORC2-dependent activation of RhoA is required for TSC2-null cell growth and survival.
Title: mTORC2 is required for proliferation and survival of TSC2-null cells.
the tuberin/mTOR pathway promotes apoptosis of tubular epithelial cells in diabetes, mediated in part by cleavage of PARP by YY1.
Title: The tuberin/mTOR pathway promotes apoptosis of tubular epithelial cells in diabetes.
Results describe the expression of Nth1 and Tsc2 genes during disease progression in hepatitis/liver tumorigenesis the Long-Evans Cinnamon rat.
Title: Suppression of tumor suppressor Tsc2 and DNA repair glycosylase Nth1 during spontaneous liver tumorigenesis in Long-Evans Cinnamon rats.
TSC2 has a role in controlling cell polarity and migration by regulating CDC42 and RAC1 activation
Title: Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1.
hamartin-Hsp70 plays a crucial role as a scaffolding protein that transfers the Akt signal to tuberin.
Title: Hamartin-Hsp70 interaction is necessary for Akt-dependent tuberin phosphorylation during heat shock.
there is a dissociation of TSC2 and mTOR phosphorylation in vivo.
Title: Partial dissociation of TSC2 and mTOR phosphorylation in cardiac and skeletal muscle of rats in vivo.
findings show that endoplasmic reticulum (ER) stress regulates TSC1/TSC2 complex to limit mTOR activity
Title: Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.
G1556S-type mutation-transgenic (GSM-Tg) rats exhibited suppression of macroscopic renal tumors following N-ethyl-N-nitrosourea treatment
Title: The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition.
These results demonstrate that OGG1 localizes with tuberin preferentially in kidney cortex. Loss of tuberin is accompanied by the loss of OGG1 contributing to tumorigenesis.
Title: Tuberin haploinsufficiency is associated with the loss of OGG1 in rat kidney tumors.

Submit: New GeneRIF Correction See all (27)

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:246972	BioGRID:249757	Cdkn1b	BioGRID	PubMed	Affinity Capture-Western
BioGRID:246972	BioGRID:114683	MAPKAPK2	BioGRID	PubMed	Biochemical Activity
BioGRID:246972	BioGRID:249778	Nefl	BioGRID	PubMed	Co-localization
BioGRID:246972	BioGRID:113099	TSC1	BioGRID	PubMed	Co-localization
BioGRID:246972	BioGRID:248838	Tsc1	BioGRID	PubMed	Co-localization; Co-purification
BioGRID:246972	BioGRID:113361	YWHAB	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid

Function	Evidence Code	Pubs
14-3-3 protein binding	IEA Inferred from Electronic Annotation more info
14-3-3 protein binding	ISO Inferred from Sequence Orthology more info
GTPase activator activity	IDA Inferred from Direct Assay more info	PubMed
GTPase activator activity	IEA Inferred from Electronic Annotation more info
GTPase activator activity	ISO Inferred from Sequence Orthology more info
Rab GTPase activator activity	TAS Traceable Author Statement more info	PubMed
binding	IEA Inferred from Electronic Annotation more info
phosphatase binding	ISO Inferred from Sequence Orthology more info
phosphatase binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IEA Inferred from Electronic Annotation more info
protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acute-phase response	IMP Inferred from Mutant Phenotype more info	PubMed
cell projection organization	IMP Inferred from Mutant Phenotype more info	PubMed
establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
heart development	IEA Inferred from Electronic Annotation more info
heart development	ISO Inferred from Sequence Orthology more info
insulin-like growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
insulin-like growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
negative regulation of MAP kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of TOR signaling cascade	IDA Inferred from Direct Assay more info	PubMed
negative regulation of TOR signaling cascade	ISO Inferred from Sequence Orthology more info
negative regulation of Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of cell proliferation	ISO Inferred from Sequence Orthology more info
negative regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of phosphatidylinositol 3-kinase cascade	IEA Inferred from Electronic Annotation more info
negative regulation of phosphatidylinositol 3-kinase cascade	ISO Inferred from Sequence Orthology more info
negative regulation of protein kinase B signaling cascade	IEA Inferred from Electronic Annotation more info
negative regulation of protein kinase B signaling cascade	ISO Inferred from Sequence Orthology more info
negative regulation of protein kinase activity	IEA Inferred from Electronic Annotation more info
negative regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
neural tube closure	IEA Inferred from Electronic Annotation more info
neural tube closure	ISO Inferred from Sequence Orthology more info
phosphatidylinositol 3-kinase cascade	ISO Inferred from Sequence Orthology more info
positive chemotaxis	IEA Inferred from Electronic Annotation more info
positive chemotaxis	ISO Inferred from Sequence Orthology more info
positive regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
positive regulation of Rab GTPase activity	TAS Traceable Author Statement more info	PubMed
protein heterooligomerization	IDA Inferred from Direct Assay more info	PubMed
protein heterooligomerization	IMP Inferred from Mutant Phenotype more info	PubMed
protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
protein homooligomerization	IMP Inferred from Mutant Phenotype more info	PubMed
protein import into nucleus	IEA Inferred from Electronic Annotation more info
protein import into nucleus	ISO Inferred from Sequence Orthology more info
protein kinase B signaling cascade	IBA Inferred from Biological aspect of Ancestor more info
protein kinase B signaling cascade	ISO Inferred from Sequence Orthology more info
protein localization	ISO Inferred from Sequence Orthology more info
regulation of cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of endocytosis	IEA Inferred from Electronic Annotation more info
regulation of endocytosis	ISO Inferred from Sequence Orthology more info
regulation of insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
regulation of insulin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
regulation of small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to hypoxia	ISO Inferred from Sequence Orthology more info
signal transduction	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
Golgi apparatus	ISO Inferred from Sequence Orthology more info
NOT Golgi apparatus	ISO Inferred from Sequence Orthology more info
TSC1-TSC2 complex	IBA Inferred from Biological aspect of Ancestor more info
TSC1-TSC2 complex	ISO Inferred from Sequence Orthology more info
caveola	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasm	ISO Inferred from Sequence Orthology more info
colocalizes_with cytoplasm	ISO Inferred from Sequence Orthology more info
cytoskeletal part	IDA Inferred from Direct Assay more info	PubMed
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	ISO Inferred from Sequence Orthology more info
dendrite	IDA Inferred from Direct Assay more info	PubMed
growth cone	IDA Inferred from Direct Assay more info	PubMed
intracellular	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
membrane fraction	ISO Inferred from Sequence Orthology more info
membrane raft	IDA Inferred from Direct Assay more info	PubMed
microsome	IDA Inferred from Direct Assay more info	PubMed
neuron projection	IDA Inferred from Direct Assay more info	PubMed
neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
nucleus	IBA Inferred from Biological aspect of Ancestor more info
nucleus	ISO Inferred from Sequence Orthology more info
NOT nucleus	ISO Inferred from Sequence Orthology more info
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
protein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: tuberin

Names: tuberin; Tsc2; renal carcinoma; tuberous sclerosis 2 homolog protein; tuberous sclerosis 2 protein homolog

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012680.2 → NP_036812.2 tuberin

Status: PROVISIONAL

Source sequence(s)

U24150

UniProtKB/Swiss-Prot

P49816

Related

ENSRNOP00000016221, ENSRNOT00000016221

Conserved Domains (3) summary

pfam03542
Location:551 – 904
Blast Score: 1253

Tuberin; Tuberin

pfam02145
Location:1563 – 1752
Blast Score: 439

Rap_GAP; Rap/ran-GAP

pfam11864
Location:51 – 472
Blast Score: 1062

DUF3384; Domain of unknown function (DUF3384)

RefSeqs of Annotated Genomes: Build 4.2

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly (based on RGSC_v3.4)

Genomic

NC_005109.2 Reference assembly (based on RGSC_v3.4)

Range

13848210..13883189, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate assembly (Rn_Celera)

Genomic

AC_000078.1 Alternate assembly (Rn_Celera)

Range

13301129..13335713, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	CH473948.1	EDM03846.1
		EDM03847.1
		EDM03848.1
genomic	D84251.1	BAA25108.1	W
mRNA	D50413.1	BAA08914.1	LE
mRNA	U24150.1	AAC52289.1	W