Tsc2 (TSC complex subunit 2) - Rat Genome Database

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Gene: Tsc2 (TSC complex subunit 2) Rattus norvegicus
Analyze
Symbol: Tsc2
Name: TSC complex subunit 2
RGD ID: 3908
Description: Enables GTPase activator activity and protein N-terminus binding activity. Involved in several processes, including negative regulation of cell population proliferation; negative regulation of signal transduction; and regulation of neuron projection development. Acts upstream of or within cell projection organization and negative regulation of cell size. Located in several cellular components, including caveola; growth cone; and neuronal cell body. Part of protein-containing complex. Is active in glutamatergic synapse. Used to study autism spectrum disorder; hepatic angiomyolipoma; and renal cell carcinoma. Biomarker of hepatocellular carcinoma. Human ortholog(s) of this gene implicated in hepatic angiomyolipoma; lymphangioleiomyomatosis; medulloblastoma; tuberous sclerosis; and tuberous sclerosis 2. Orthologous to human TSC2 (TSC complex subunit 2); PARTICIPATES IN mitogen activated protein kinase signaling pathway; mTOR signaling pathway; Wnt signaling, canonical pathway; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine; 2,6-dinitrotoluene.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: Rc; renal carcinoma; tuberin; tuberous sclerosis 2; Tuberous sclerosis 2 (renal carcinoma); tuberous sclerosis 2 homolog protein; tuberous sclerosis 2 protein homolog
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: Tsc2_v1   Tsc2_v2   Tsc2Eker  
Genetic Models: LETsc2Eker/Hin
Is Marker For: Strains:   Eker-Tg(Tsc2)5Hin   LETsc2Eker/Hin   Eker-Tg(Tsc2)28Hin  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21013,621,135 - 13,655,773 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1013,621,136 - 13,655,951 (-)Ensembl
Rnor_6.01013,962,006 - 13,996,684 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,961,947 - 13,996,584 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,778,990 - 13,813,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,848,210 - 13,883,189 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11013,848,241 - 13,882,689NCBI
Celera1013,301,129 - 13,335,713 (-)NCBICelera
Cytogenetic Map10q12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Hepatitis  (IEP)
acute myeloid leukemia  (ISO)
Alzheimer's disease  (ISO)
angiomyolipoma  (ISO)
Arthralgia  (ISO)
autism spectrum disorder  (IMP,ISO,ISS)
autistic disorder  (ISO)
bone osteosarcoma  (ISO)
brain disease  (ISO)
Brain Neoplasms  (ISO)
breast cancer  (ISO)
Cafe-au-Lait Spots  (ISO)
developmental and epileptic encephalopathy 1  (ISO)
endometrial carcinoma  (ISO)
epilepsy  (ISO)
Experimental Diabetes Mellitus  (IEP)
familial Mediterranean fever  (ISO)
Fanconi anemia  (ISO)
Female Infertility  (ISO)
Fever  (ISO)
Focal Cortical Dysplasia of Taylor  (ISO)
genetic disease  (ISO)
Hamartoma  (ISO)
hemangioma  (ISO)
hepatic angiomyolipoma  (IAGP)
hepatocellular carcinoma  (IEP)
Hereditary Neoplastic Syndromes  (ISO)
Hirschsprung's disease  (ISO)
idiopathic generalized epilepsy  (ISO)
Inflammation  (ISO)
intellectual disability  (ISO)
Joint Instability  (ISO)
Kidney Neoplasms  (ISO)
leiomyoma  (ISO)
Lung Neoplasms  (ISO)
lymphangioleiomyomatosis  (ISO)
Lymphatic Metastasis  (ISO)
medulloblastoma  (ISO)
Mouth Neoplasms  (ISO)
Nerve Degeneration  (ISO)
Nervous System Malformations  (ISO)
neuroblastoma  (ISO)
Neurodevelopmental Disorders  (ISO)
pancreatic cancer  (ISO)
pancreatic ductal carcinoma  (ISO)
pre-malignant neoplasm  (ISO)
primary coenzyme Q10 deficiency 7  (ISO)
renal cell carcinoma  (IAGP,IMP,ISO)
squamous cell carcinoma  (ISO)
tuberous sclerosis  (ISO)
tuberous sclerosis 1  (ISO)
tuberous sclerosis 2  (ISO)
uterine fibroid  (ISS)
vascular dementia  (ISO)
visual epilepsy  (ISO)
West syndrome  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (EXP)
4-hydroxynon-2-enal  (ISO)
4-nonylphenol  (EXP)
4-phenylbutyric acid  (ISO)
5-azacytidine  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
acrolein  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
alpha-pinene  (ISO)
ammonium chloride  (EXP)
androgen antagonist  (EXP)
antirheumatic drug  (ISO)
antroquinonol  (ISO)
aristolochic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (ISO)
azathioprine  (ISO)
Benoxacor  (ISO)
benzene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Butylparaben  (EXP)
cadmium dichloride  (EXP,ISO)
cannabidiol  (ISO)
captan  (ISO)
cisplatin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (ISO)
curcumin  (ISO)
DDE  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (EXP)
dicrotophos  (ISO)
dieldrin  (EXP,ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
dorsomorphin  (EXP,ISO)
doxorubicin  (ISO)
elemental selenium  (ISO)
endosulfan  (EXP)
enzacamene  (EXP)
epoxiconazole  (EXP)
fenthion  (ISO)
folpet  (ISO)
GSK690693  (ISO)
hydrogen peroxide  (ISO)
ivermectin  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
linuron  (EXP)
lipopolysaccharide  (ISO)
mercury dibromide  (ISO)
methamphetamine  (EXP,ISO)
methidathion  (ISO)
methotrexate  (ISO)
methylmercury chloride  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-L-cysteine  (EXP)
nickel dichloride  (EXP)
Nonylphenol  (EXP)
ochratoxin A  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenylephrine  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
prochloraz  (EXP)
procymidone  (EXP)
quercetin  (ISO)
radon atom  (ISO)
radon(0)  (ISO)
resveratrol  (EXP,ISO)
SB 431542  (ISO)
selenium atom  (ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (ISO)
sorafenib  (EXP)
sunitinib  (ISO)
Temsirolimus  (ISO)
testosterone  (ISO)
tungsten  (ISO)
valproic acid  (ISO)
vinclozolin  (EXP)
vitamin E  (ISO)
vorinostat  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IDA)
anoikis  (IEA,ISO)
B cell proliferation  (ISO)
cell population proliferation  (ISO)
cell projection organization  (IGI,IMP)
cellular response to insulin stimulus  (ISO)
establishment of cell polarity  (IMP)
establishment of protein localization  (IMP)
excitatory chemical synaptic transmission  (ISO)
glucose import  (ISO)
heart development  (ISO)
inhibitory chemical synaptic transmission  (ISO)
insulin-like growth factor receptor signaling pathway  (ISO)
negative regulation of axonogenesis  (IMP)
negative regulation of B cell proliferation  (ISO)
negative regulation of cell population proliferation  (IMP,ISO)
negative regulation of cell size  (IMP)
negative regulation of epithelial cell proliferation  (IDA)
negative regulation of epithelial to mesenchymal transition  (IMP)
negative regulation of fibroblast proliferation  (IDA)
negative regulation of insulin receptor signaling pathway  (IBA)
negative regulation of macroautophagy  (IMP)
negative regulation of MAP kinase activity  (IMP)
negative regulation of phosphatidylinositol 3-kinase signaling  (ISO)
negative regulation of pinocytosis  (IMP)
negative regulation of protein kinase activity  (ISO)
negative regulation of protein kinase B signaling  (IBA,ISO)
negative regulation of protein phosphorylation  (IMP)
negative regulation of T cell proliferation  (ISO)
negative regulation of TOR signaling  (IBA,IDA,IEA,ISO)
negative regulation of TORC1 signaling  (ISO)
negative regulation of vascular endothelial cell proliferation  (IMP)
negative regulation of Wnt signaling pathway  (IBA,IDA)
neural tube closure  (ISO)
phosphatidylinositol 3-kinase signaling  (ISO)
positive chemotaxis  (ISO)
positive regulation of autophagy  (ISO)
positive regulation of cell adhesion  (IMP)
positive regulation of dendritic spine development  (IMP)
positive regulation of fibroblast migration  (IMP)
positive regulation of GTPase activity  (IEA)
positive regulation of macroautophagy  (IEA,ISO)
positive regulation of neuron projection development  (IMP)
positive regulation of transcription by RNA polymerase II  (ISO)
protein import into nucleus  (ISO)
protein kinase B signaling  (ISO)
protein localization  (ISO)
protein localization to cell surface  (IMP)
protein transport into plasma membrane raft  (ISO)
regulation of cell cycle  (IBA)
regulation of endocytosis  (ISO)
regulation of insulin receptor signaling pathway  (ISO)
regulation of postsynapse organization  (IDA,IMP)
regulation of small GTPase mediated signal transduction  (IEA)
response to hypoxia  (ISO)
signal transduction  (IDA)
social behavior  (IMP)
T cell proliferation  (ISO)
transcription by RNA polymerase II  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
References

References - curated
# Reference Title Reference Citation
1. Tuberin regulates E-cadherin localization: implications in epithelial-mesenchymal transition. Barnes EA, etal., Am J Pathol. 2010 Oct;177(4):1765-78. doi: 10.2353/ajpath.2010.090233. Epub 2010 Sep 2.
2. Tuberous sclerosis complex 2 gene product interacts with human SMAD proteins. A molecular link of two tumor suppressor pathways. Birchenall-Roberts MC, etal., J Biol Chem. 2004 Jun 11;279(24):25605-13. Epub 2004 Apr 2.
3. Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. Black ME, etal., Clin Genet. 2012 Dec;82(6):552-7. doi: 10.1111/j.1399-0004.2012.01845.x. Epub 2012 Feb 2.
4. Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. Cai S, etal., Am J Pathol 2003 Feb;162(2):457-68.
5. Phenotypic characterization of disseminated cells with TSC2 loss of heterozygosity in patients with lymphangioleiomyomatosis. Cai X, etal., Am J Respir Crit Care Med. 2010 Dec 1;182(11):1410-8. doi: 10.1164/rccm.201003-0489OC. Epub 2010 Jul 16.
6. Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Carsillo T, etal., Proc Natl Acad Sci U S A. 2000 May 23;97(11):6085-90.
7. Tuberous sclerosis complex proteins control axon formation. Choi YJ, etal., Genes Dev. 2008 Sep 15;22(18):2485-95. doi: 10.1101/gad.1685008.
8. Increased expression of tuberin in human uterine leiomyoma. Cui L, etal., Fertil Steril. 2011 Apr;95(5):1805-8. doi: 10.1016/j.fertnstert.2010.11.028. Epub 2010 Dec 10.
9. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Di Nardo A, etal., Hum Mol Genet. 2014 Jul 15;23(14):3865-74. doi: 10.1093/hmg/ddu101. Epub 2014 Mar 5.
10. Regulation of mTORC1 by PI3K signaling. Dibble CC and Cantley LC, Trends Cell Biol. 2015 Sep;25(9):545-55. doi: 10.1016/j.tcb.2015.06.002. Epub 2015 Jul 6.
11. Tuberin--a new molecular target in Alzheimer's disease? Ferrando-Miguel R, etal., Neurochem Res. 2005 Nov;30(11):1413-9.
12. Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells. Floricel F, etal., Brain Dev. 2007 Sep;29(8):502-9. Epub 2007 Mar 21.
13. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
14. TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase. Goncharova E, etal., J Cell Biol. 2004 Dec 20;167(6):1171-82.
15. Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation. A role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). Goncharova EA, etal., J Biol Chem 2002 Aug 23;277(34):30958-67.
16. Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. Habib SL Mol Cancer. 2009 Mar 5;8:13. doi: 10.1186/1476-4598-8-13.
17. Correlation between tuberous sclerosis complex 2 and glycogen synthase kinase 3 beta levels, and outcomes of patients with hepatocellular carcinoma treated by hepatectomy. Huang KT, etal., Hepatol Res. 2014 Oct;44(11):1142-50. doi: 10.1111/hepr.12256. Epub 2013 Nov 8.
18. Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Inoki K, etal., Genes Dev. 2003 Aug 1;17(15):1829-34. Epub 2003 Jul 17.
19. Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: the role of promoter methylation of TSC genes. Jiang WG, etal., Eur J Cancer. 2005 Jul;41(11):1628-36.
20. Tuberin is a component of lipid rafts and mediates caveolin-1 localization: role of TSC2 in post-Golgi transport. Jones KA, etal., Exp Cell Res. 2004 May 1;295(2):512-24.
21. Hyperplasia and fibrosis in mice with conditional loss of the TSC2 tumor suppressor in Mullerian duct mesenchyme-derived myometria. Kaneko-Tarui T, etal., Mol Hum Reprod. 2014 Nov;20(11):1126-34. doi: 10.1093/molehr/gau077. Epub 2014 Sep 4.
22. Regulation of B-Raf kinase activity by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent. Karbowniczek M, etal., J Biol Chem. 2004 Jul 16;279(29):29930-7. Epub 2004 May 18.
23. Expression and prognostic value of tuberous sclerosis complex 2 gene product tuberin in human pancreatic cancer. Kataoka K, etal., Surgery. 2005 Sep;138(3):450-5.
24. Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line Tsc2 mutation in mice. Kobayashi T, etal., Cancer Res. 1999 Mar 15;59(6):1206-11.
25. A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Kobayashi T, etal., Nat Genet 1995 Jan;9(1):70-4.
26. cDNA structure, alternative splicing and exon-intron organization of the predisposing tuberous sclerosis (Tsc2) gene of the Eker rat model. Kobayashi T, etal., Nucleic Acids Res 1995 Jul 25;23(14):2608-13.
27. Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene. Kobayashi T, etal., Proc Natl Acad Sci U S A 1997 Apr 15;94(8):3990-3.
28. Tuberous sclerosis complex 2 (TSC2) regulates cell migration and polarity through activation of CDC42 and RAC1. Larson Y, etal., J Biol Chem. 2010 Aug 6;285(32):24987-98. doi: 10.1074/jbc.M109.096917. Epub 2010 Jun 8.
29. Molecular mechanisms of mTOR-mediated translational control. Ma XM and Blenis J, Nat Rev Mol Cell Biol. 2009 May;10(5):307-18. Epub 2009 Apr 2.
30. The tuberin-hamartin complex negatively regulates beta-catenin signaling activity. Mak BC, etal., J Biol Chem 2003 Feb 21;278(8):5947-51. Epub 2003 Jan 02.
31. Role of insulin, adipocyte hormones, and nutrient-sensing pathways in regulating fuel metabolism and energy homeostasis: a nutritional perspective of diabetes, obesity, and cancer. Marshall S Sci STKE. 2006 Aug 1;2006(346):re7.
32. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
33. Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Mizuguchi M, etal., Ann Neurol. 1996 Dec;40(6):941-4.
34. N-terminal hamartin-binding and C-terminal GAP domain of tuberin can separate in vivo. Momose S, etal., Biochem Biophys Res Commun. 2007 May 11;356(3):693-8. Epub 2007 Mar 13.
35. Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex. Murthy V, etal., J Biol Chem 2004 Jan 9;279(2):1351-8. Epub 2003 Oct 14.
36. Loss of tuberin, the tuberous-sclerosis-complex-2 gene product is associated with angiogenesis. Nguyen-Vu PA, etal., J Cutan Pathol. 2001 Oct;28(9):470-5.
37. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
38. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
39. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
40. Analysis of the TSC2 gene in human medulloblastoma. Przkora R, etal., Acta Neuropathol. 2001 Oct;102(4):380-4.
41. c-myc Repression of TSC2 contributes to control of translation initiation and Myc-induced transformation. Ravitz MJ, etal., Cancer Res. 2007 Dec 1;67(23):11209-17.
42. Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations. Rendtorff ND, etal., Hum Mutat. 2005 Oct;26(4):374-83.
43. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
44. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
45. Suppression of tumor suppressor Tsc2 and DNA repair glycosylase Nth1 during spontaneous liver tumorigenesis in Long-Evans Cinnamon rats. Sajankila SP, etal., Mol Cell Biochem. 2010 May;338(1-2):233-9. doi: 10.1007/s11010-009-0357-1. Epub 2009 Dec 24.
46. Isolation and characterization of a rat homologue of the human tuberous sclerosis 1 gene (Tsc1) and analysis of its mutations in rat renal carcinomas. Satake N, etal., Cancer Res 1999 Feb 15;59(4):849-55.
47. The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. Shiono M, etal., Oncogene. 2008 Nov 6;27(52):6690-7. doi: 10.1038/onc.2008.283. Epub 2008 Aug 11.
48. Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality. Shiono M, etal., Sci Rep. 2014 Aug 4;4:5927. doi: 10.1038/srep05927.
49. Mechanism of oxidative DNA damage in diabetes: tuberin inactivation and downregulation of DNA repair enzyme 8-oxo-7,8-dihydro-2'-deoxyguanosine-DNA glycosylase. Simone S, etal., Diabetes. 2008 Oct;57(10):2626-36. doi: 10.2337/db07-1579. Epub 2008 Jul 3.
50. Brain-derived neurotrophic factor induces mammalian target of rapamycin-dependent local activation of translation machinery and protein synthesis in neuronal dendrites. Takei N, etal., J Neurosci. 2004 Nov 3;24(44):9760-9.
51. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Tavazoie SF, etal., Nat Neurosci. 2005 Dec;8(12):1727-34. Epub 2005 Nov 6.
52. Tentative Sequence Identification Numbers Tentative Sequence Data IDs. TIGR Gene Index, Rat Data
53. Epilepsy and Tsc2 haploinsufficiency lead to autistic-like social deficit behaviors in rats. Waltereit R, etal., Behav Genet. 2011 May;41(3):364-72. doi: 10.1007/s10519-010-9399-0. Epub 2010 Oct 7.
54. Acetaminophen improves protein translational signaling in aged skeletal muscle. Wu M, etal., Rejuvenation Res. 2010 Oct;13(5):571-9. doi: 10.1089/rej.2009.1015. Epub 2010 Sep 6.
55. Identification of tuberous sclerosis 2 messenger RNA splice variants that are conserved and differentially expressed in rat and human tissues. Xiao GH, etal., Cell Growth Differ 1995 Sep;6(9):1185-91.
56. The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. Xiao GH, etal., J Biol Chem. 1997 Mar 7;272(10):6097-100.
57. Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin. Yamamoto Y, etal., Arch Biochem Biophys. 2002 Aug 15;404(2):210-7.
58. Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis. Yan Z, etal., Histopathology. 2018 Jul;73(1):101-108. doi: 10.1111/his.13509. Epub 2018 Apr 19.
59. Activation of Rheb, but not of mTORC1, impairs spine synapse morphogenesis in tuberous sclerosis complex. Yasuda S, etal., Sci Rep. 2014 Jun 3;4:5155. doi: 10.1038/srep05155.
60. Cell proliferation is insufficient, but loss of tuberin is necessary, for chemically induced nephrocarcinogenicity. Yoon HS, etal., Am J Physiol Renal Physiol 2002 Aug;283(2):F262-70.
61. Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells. Yoon HS, etal., Am J Physiol Renal Physiol. 2004 Feb;286(2):F417-24. Epub 2003 Nov 11.
62. Mutual information-based feature selection in studying perturbation of dendritic structure caused by TSC2 inactivation. Zhou X, etal., Neuroinformatics. 2006 Winter;4(1):81-94.
Additional References at PubMed
PMID:8806680   PMID:9250859   PMID:9580671   PMID:10491404   PMID:10585443   PMID:10807585   PMID:10827137   PMID:11741832   PMID:12097287   PMID:12226091   PMID:12403809   PMID:12468542  
PMID:12582162   PMID:12750296   PMID:14566415   PMID:15039427   PMID:15249583   PMID:15355997   PMID:15579027   PMID:15851513   PMID:16027168   PMID:16027169   PMID:16300636   PMID:16424383  
PMID:16452087   PMID:16636147   PMID:16959574   PMID:17074751   PMID:17114346   PMID:17458623   PMID:17510244   PMID:18094073   PMID:18198340   PMID:18218111   PMID:18511518   PMID:18670866  
PMID:19389623   PMID:19420259   PMID:19897899   PMID:19914239   PMID:20453062   PMID:21289215   PMID:21482669   PMID:22904348   PMID:23265586   PMID:23778976   PMID:23858058   PMID:23878245  
PMID:24444419   PMID:25738543   PMID:25780943   PMID:25936802   PMID:26352760   PMID:26550928   PMID:27031579   PMID:27278252   PMID:27898073   PMID:29127155   PMID:31925975   PMID:33863288  


Genomics

Comparative Map Data
Tsc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21013,621,135 - 13,655,773 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1013,621,136 - 13,655,951 (-)Ensembl
Rnor_6.01013,962,006 - 13,996,684 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1013,961,947 - 13,996,584 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01013,778,990 - 13,813,725 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41013,848,210 - 13,883,189 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11013,848,241 - 13,882,689NCBI
Celera1013,301,129 - 13,335,713 (-)NCBICelera
Cytogenetic Map10q12NCBI
TSC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38162,047,985 - 2,089,491 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl162,047,967 - 2,089,491 (+)EnsemblGRCh38hg38GRCh38
GRCh37162,097,986 - 2,139,492 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36162,037,991 - 2,078,714 (+)NCBINCBI36hg18NCBI36
Build 34162,038,599 - 2,078,713NCBI
Celera162,310,097 - 2,350,826 (+)NCBI
Cytogenetic Map16p13.3NCBI
HuRef162,022,255 - 2,063,441 (+)NCBIHuRef
CHM1_1162,097,965 - 2,138,628 (+)NCBICHM1_1
T2T-CHM13v2.0162,067,794 - 2,109,598 (+)NCBI
Tsc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391724,814,790 - 24,851,607 (-)NCBIGRCm39mm39
GRCm39 Ensembl1724,814,790 - 24,851,604 (-)Ensembl
GRCm381724,595,816 - 24,632,676 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1724,595,816 - 24,632,630 (-)EnsemblGRCm38mm10GRCm38
MGSCv371724,732,882 - 24,769,574 (-)NCBIGRCm37mm9NCBIm37
MGSCv361724,323,537 - 24,360,229 (-)NCBImm8
Celera1725,113,932 - 25,155,030 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.41NCBI
Tsc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544215,178,487 - 15,216,362 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544215,178,356 - 15,216,978 (-)NCBIChiLan1.0ChiLan1.0
TSC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1162,135,696 - 2,175,569 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl162,135,696 - 2,175,569 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v016615,776 - 655,411 (-)NCBIMhudiblu_PPA_v0panPan3
TSC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1638,865,509 - 38,898,977 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl638,865,507 - 38,898,960 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha640,104,412 - 40,137,701 (-)NCBI
ROS_Cfam_1.0639,173,764 - 39,207,052 (-)NCBI
ROS_Cfam_1.0 Ensembl639,173,766 - 39,207,060 (-)Ensembl
UMICH_Zoey_3.1638,858,570 - 38,891,854 (-)NCBI
UNSW_CanFamBas_1.0638,830,888 - 38,864,172 (-)NCBI
UU_Cfam_GSD_1.0639,309,683 - 39,342,799 (-)NCBI
Tsc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344104,716,067 - 104,751,311 (+)NCBI
SpeTri2.0NW_0049366941,958,152 - 1,993,373 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TSC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl339,898,925 - 39,937,371 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1339,898,924 - 39,935,579 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2342,245,971 - 42,282,092 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TSC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.151,946,534 - 1,985,168 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl51,946,927 - 1,987,682 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606829,078,990 - 29,119,738 (-)NCBIVero_WHO_p1.0
Tsc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624913166,931 - 202,953 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624913166,931 - 203,008 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH142233  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21013,655,341 - 13,655,514 (+)MAPPERmRatBN7.2
Rnor_6.01013,996,211 - 13,996,383NCBIRnor6.0
Rnor_5.01013,813,196 - 13,813,368UniSTSRnor5.0
RGSC_v3.41013,882,835 - 13,883,007UniSTSRGSC3.4
Celera1013,335,359 - 13,335,531UniSTS
Cytogenetic Map10q12UniSTS
RH94522  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21013,621,172 - 13,621,274 (+)MAPPERmRatBN7.2
Rnor_6.01013,962,043 - 13,962,144NCBIRnor6.0
Rnor_5.01013,779,028 - 13,779,129UniSTSRnor5.0
RGSC_v3.41013,848,247 - 13,848,348UniSTSRGSC3.4
Celera1013,301,166 - 13,301,267UniSTS
Cytogenetic Map10q12UniSTS
RH138827  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21013,621,139 - 13,621,352 (+)MAPPERmRatBN7.2
Rnor_6.01013,962,010 - 13,962,222NCBIRnor6.0
Rnor_5.01013,778,995 - 13,779,207UniSTSRnor5.0
RGSC_v3.41013,848,214 - 13,848,426UniSTSRGSC3.4
Celera1013,301,133 - 13,301,345UniSTS
Cytogenetic Map10q12UniSTS


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
634329Pia15Pristane induced arthritis QTL 153.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)10124158324Rat
2293680Bss40Bone structure and strength QTL 405.660.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)10135225947Rat
634327Hc4Hypercalciuria QTL 42.4urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)10138328221Rat
7411611Foco17Food consumption QTL 1718.70.001eating behavior trait (VT:0001431)feed conversion ratio (CMO:0001312)10142315980Rat
70223Bp57Blood pressure QTL 575arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)10180676123Rat
10401803Kidm50Kidney mass QTL 50kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1041834445418344Rat
631554Bp133Blood pressure QTL 1330.005arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1074336463851208Rat
1576304Schws7Schwannoma susceptibility QTL 70.0115nervous system integrity trait (VT:0010566)percentage of study population developing trigeminal nerve neurilemmomas during a period of time (CMO:0002017)10476552719816042Rat
631828Alc5Alcohol consumption QTL 52.4consumption behavior trait (VT:0002069)ethanol drink intake rate (CMO:0001407)10514402717245662Rat
737820Alc9Alcohol consumption QTL 92.2consumption behavior trait (VT:0002069)ethanol drink intake rate (CMO:0001407)10514402719233348Rat
2313064Bmd71Bone mineral density QTL 710.90.0001tibia mineral mass (VT:1000283)cortical volumetric bone mineral density (CMO:0001730)10538701450387014Rat
2313066Bss63Bone structure and strength QTL 631.40.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)10538701450387014Rat
2313081Bss64Bone structure and strength QTL 641.30.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)10538701450387014Rat
2313095Bss62Bone structure and strength QTL 621.50.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)10538701450387014Rat
2313104Bss61Bone structure and strength QTL 610.90.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)10538701450387014Rat
2298544Neuinf9Neuroinflammation QTL 94.6nervous system integrity trait (VT:0010566)spinal cord complement component 1, q subcomponent, B chain mRNA level (CMO:0002126)10580199062146030Rat
631660Hcar1Hepatocarcinoma resistance QTL 13.40.0001liver integrity trait (VT:0010547)volume of individual liver tumorous lesion (CMO:0001078)10615418215990232Rat
8662860Vetf10Vascular elastic tissue fragility QTL 10artery integrity trait (VT:0010639)number of ruptures of the internal elastic lamina of the abdominal aorta and iliac arteries (CMO:0002562)10615418273453136Rat
61427Cia16Collagen induced arthritis QTL 163.2joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)10635789696121100Rat
1578761Stresp21Stress response QTL 213.3thymus mass (VT:0004954)thymus wet weight (CMO:0000855)10637574651375746Rat
2303118Mamtr7Mammary tumor resistance QTL 70.003mammary gland integrity trait (VT:0010552)mammary tumor growth rate (CMO:0000344)109658275104670812Rat
9590310Scort19Serum corticosterone level QTL 196.30.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)101147401056474010Rat
9590268Scort13Serum corticosterone level QTL 133.260.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)101147401056474010Rat
9589136Insul27Insulin level QTL 2710.460.001blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)101147401056474010Rat


Related Rat Strains
The following Strains have been annotated to Tsc2


Genetic Models
This gene Tsc2 is modified in the following models/strains
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:141
Count of miRNA genes:41
Interacting mature miRNAs:47
Transcripts:ENSRNOT00000016221, ENSRNOT00000030886, ENSRNOT00000052138
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 3 34 38 22 19 22 4 7 74 34 41 11 4
Low 9 19 19 19 4 4 1 4
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006245909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_008767544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017597027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_039085238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D50413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D84251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JACYVU010000219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSRNOT00000016221   ⟹   ENSRNOP00000016221
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1013,621,136 - 13,655,696 (-)Ensembl
Rnor_6.0 Ensembl1013,962,006 - 13,996,565 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000052138   ⟹   ENSRNOP00000039381
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1013,621,136 - 13,655,951 (-)Ensembl
Rnor_6.0 Ensembl1013,961,947 - 13,996,584 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000114834   ⟹   ENSRNOP00000087212
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1013,621,156 - 13,655,725 (-)Ensembl
RefSeq Acc Id: NM_012680   ⟹   NP_036812
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,136 - 13,655,696 (-)NCBI
Rnor_6.01013,962,006 - 13,996,565 (-)NCBI
Rnor_5.01013,778,990 - 13,813,725 (-)NCBI
RGSC_v3.41013,848,210 - 13,883,189 (-)RGD
Celera1013,301,129 - 13,335,713 (-)RGD
Sequence:
RefSeq Acc Id: XM_006245909   ⟹   XP_006245971
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
Rnor_6.01013,962,008 - 13,996,684 (-)NCBI
Rnor_5.01013,778,990 - 13,813,725 (-)NCBI
Sequence:
RefSeq Acc Id: XM_008767544   ⟹   XP_008765766
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,654,991 (-)NCBI
Rnor_6.01013,962,008 - 13,995,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_039085226   ⟹   XP_038941154
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085227   ⟹   XP_038941155
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085228   ⟹   XP_038941156
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085229   ⟹   XP_038941157
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085230   ⟹   XP_038941158
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085232   ⟹   XP_038941160
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085233   ⟹   XP_038941161
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085234   ⟹   XP_038941162
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085235   ⟹   XP_038941163
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085236   ⟹   XP_038941164
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,621,135 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085237   ⟹   XP_038941165
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,625,259 - 13,655,773 (-)NCBI
RefSeq Acc Id: XM_039085238   ⟹   XP_038941166
RefSeq Status:
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.21013,625,277 - 13,655,773 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_036812   ⟸   NM_012680
- UniProtKB: P49816 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006245971   ⟸   XM_006245909
- Peptide Label: isoform X1
- UniProtKB: P49816 (UniProtKB/Swiss-Prot),   A0A0G2JSL4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008765766   ⟸   XM_008767544
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: ENSRNOP00000016221   ⟸   ENSRNOT00000016221
RefSeq Acc Id: ENSRNOP00000039381   ⟸   ENSRNOT00000052138
RefSeq Acc Id: XP_038941164   ⟸   XM_039085236
- Peptide Label: isoform X11
RefSeq Acc Id: XP_038941157   ⟸   XM_039085229
- Peptide Label: isoform X5
RefSeq Acc Id: XP_038941155   ⟸   XM_039085227
- Peptide Label: isoform X3
RefSeq Acc Id: XP_038941158   ⟸   XM_039085230
- Peptide Label: isoform X6
RefSeq Acc Id: XP_038941163   ⟸   XM_039085235
- Peptide Label: isoform X10
RefSeq Acc Id: XP_038941161   ⟸   XM_039085233
- Peptide Label: isoform X8
RefSeq Acc Id: XP_038941162   ⟸   XM_039085234
- Peptide Label: isoform X9
RefSeq Acc Id: XP_038941160   ⟸   XM_039085232
- Peptide Label: isoform X7
RefSeq Acc Id: XP_038941154   ⟸   XM_039085226
- Peptide Label: isoform X2
RefSeq Acc Id: XP_038941156   ⟸   XM_039085228
- Peptide Label: isoform X4
RefSeq Acc Id: XP_038941165   ⟸   XM_039085237
- Peptide Label: isoform X13
RefSeq Acc Id: XP_038941166   ⟸   XM_039085238
- Peptide Label: isoform X14
RefSeq Acc Id: ENSRNOP00000087212   ⟸   ENSRNOT00000114834
Protein Domains
Rap-GAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P49816-F1-model_v2 AlphaFold P49816 1-1809 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13697034
Promoter ID:EPDNEW_R7541
Type:multiple initiation site
Name:Tsc2_1
Description:TSC complex subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01013,996,594 - 13,996,654EPDNEW

Strain Variation

Strain Sequence Variants (mRatBN7.2)
ACI/EurMcwi (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
ACI/N (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BN-Lx/CubMcwi (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BN/NHsdMcwi (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BN/NHsdMcwi (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BN/SsN (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BUF/N (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BXH2/CubMcwi (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
BXH3/CubMcwi (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
DA/OlaHsd (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Envigo
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
F344/DuCrl (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Charles River
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
F344/N (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
F344/NCrl (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Charles River
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
F344/Stm (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
FHH/EurMcwi (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
FXLE16/Stm (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
FXLE18/Stm (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
GK/FarMcwi (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
HXB10/IpcvMcwi (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
HXB2/IpcvMcwi (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
HXB20/IpcvMcwi (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
HXB31/IpcvMcwi (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
HXB4/IpcvMcwi (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LE/Stm (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEW/Crl (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Charles River
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF10A/StmMcwi (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF11/Stm (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF1A/Stm (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF1C/Stm (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF2B/Stm (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF3/Stm (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LEXF4/Stm (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LH/MavRrrcAek (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Kwitek
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LL/MavRrrcAek (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Kwitek
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
LN/MavRrrcAek (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Kwitek
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
M520/N (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
M520/NRrrcMcwi (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
MR/N (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
MWF/Hsd (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
PVG/Seac (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Japan
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
SHR/OlalpcvMcwi (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
SHRSP/A3NCrl (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Charles River
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
SR/JrHsd (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Envigo
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
SS/JrHsdMcwi (2019)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: MCW
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
WAG/RijCrl (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Charles River
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
WKY/N (2020)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
WKY/NCrl (2019)
Visual CSV TAB Printer
Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: Charles River
Description: Dr. Mindy Dwinell - Hybrid rat diversity program
WN/N (2020)
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Platform: GSPMC-Illumina-NovaSeq6000
Secondary Analysis: BWA_mem_v.0.7.17,_GATK_v.4.1.3.0
Breeder: NIH
Description: Dr. Mindy Dwinell - Hybrid rat diversity program

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:3908 AgrOrtholog
BioCyc Gene G2FUF-25845 BioCyc
Ensembl Genes ENSRNOG00000011375 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Protein ENSRNOP00000016221 ENTREZGENE
  ENSRNOP00000016221.1 UniProtKB/TrEMBL
  ENSRNOP00000039381 ENTREZGENE
  ENSRNOP00000039381.6 UniProtKB/TrEMBL
  ENSRNOP00000087212 ENTREZGENE
  ENSRNOP00000087212.1 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000016221 ENTREZGENE
  ENSRNOT00000016221.4 UniProtKB/TrEMBL
  ENSRNOT00000052138 ENTREZGENE
  ENSRNOT00000052138.7 UniProtKB/TrEMBL
  ENSRNOT00000114834 ENTREZGENE
  ENSRNOT00000114834.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.11210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rap/Ran-GAP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rap_GAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tuberin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tuberin-type_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tuberin/Ral-act_asu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tuberin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:24855 UniProtKB/Swiss-Prot
NCBI Gene 24855 ENTREZGENE
PANTHER PTHR10063 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3384 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rap_GAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tuberin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Tsc2 PhenoGen
PRINTS TUBERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAPGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF111347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGR TC218170
UniProt A0A0G2JSL4 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6AG49_RAT UniProtKB/TrEMBL
  D3ZLW4_RAT UniProtKB/TrEMBL
  P49816 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2002-06-10 Tsc2  Tuberous sclerosis 2, (renal carcinoma)      Symbol and Name status set to approved 70586 APPROVED

RGD Curation Notes
Note Type Note Reference
gene_cellular_localization localized in the golgi apparatus 625600
gene_cellular_localization localized in the golgi apparatus 625610
gene_cellular_localization localized in the golgi apparatus 625611
gene_disease mutation is associated with renal carcinoma in the Eker rat hereditary renal carcinoma (RC) model 625610
gene_disease mutation of the human homolog is a cause of tuberous sclerosis 625610
gene_domains contains a GAP (GTPase-activating protein) domain 625600
gene_domains contains a GAP (GTPase-activating protein) domain 625610
gene_domains contains a GAP (GTPase-activating protein) domain 625611
gene_domains contains two transcriptional activation domain in the carboxyl terminal, a zinc finger like region and a src-homology 3 region (SH3) binding domain 625600
gene_domains contains two transcriptional activation domain in the carboxyl terminal, a zinc finger like region and a src-homology 3 region (SH3) binding domain 625610
gene_domains contains two transcriptional activation domain in the carboxyl terminal, a zinc finger like region and a src-homology 3 region (SH3) binding domain 625611
gene_drugs 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ) acts in early stages of tumor development in the Long-Evans Eker rats inducing nephrotoxicity and cell proliferation leading to renal cancer 625600
gene_drugs 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ) acts in early stages of tumor development in the Long-Evans Eker rats inducing nephrotoxicity and cell proliferation leading to renal cancer 625610
gene_drugs 2,3,5-tris-(glutathion-S-yl)hydroquinone (TGHQ) acts in early stages of tumor development in the Long-Evans Eker rats inducing nephrotoxicity and cell proliferation leading to renal cancer 625611
gene_expression expressed in the kidney tissues in the outer stripe of the outer medulla (OSOM) and cortex; tuberin expressed in the QT-RRE cells (quinol-thioether-transformed rat renal epithelial cells) 625600
gene_expression expressed in the kidney tissues in the outer stripe of the outer medulla (OSOM) and cortex; tuberin expressed in the QT-RRE cells (quinol-thioether-transformed rat renal epithelial cells) 625610
gene_expression expressed in the kidney tissues in the outer stripe of the outer medulla (OSOM) and cortex; tuberin expressed in the QT-RRE cells (quinol-thioether-transformed rat renal epithelial cells) 625611
gene_homology the GAP (GTPase-activating protein) domain is conserved between humans and rats 625600
gene_homology the GAP (GTPase-activating protein) domain is conserved between humans and rats 625610
gene_homology the GAP (GTPase-activating protein) domain is conserved between humans and rats 625611
gene_mutations_overexpression transgenic expression of a wild type Tsc2BN minigene rescues otherwise expected homozygous embryonic lethality in the Eker rat 628401
gene_process the COOH terminus functions as a tumor suppressor 625600
gene_process the COOH terminus functions as a tumor suppressor 625610
gene_process the COOH terminus functions as a tumor suppressor 625611
gene_process has weak GTPase-activating protein activity 625600
gene_process has weak GTPase-activating protein activity 625610
gene_process has weak GTPase-activating protein activity 625611
gene_protein 1,784 amino acids 625610
gene_transcript consists of 41 exons with small introns, the two alternatively spliced exons are exons 25 and 31 625600
gene_transcript consists of 41 exons with small introns, the two alternatively spliced exons are exons 25 and 31 625610
gene_transcript consists of 41 exons with small introns, the two alternatively spliced exons are exons 25 and 31 625611
gene_transcript 5.8 kb in size 625610