Human Gene TSC2 (uc002con.3) Description and Page Index
  Description: Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.
RefSeq Summary (NM_000548): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:2,097,990-2,138,713 Size: 40,724 Total Exon Count: 42 Strand: +
Coding Region
   Position: hg19 chr16:2,098,617-2,138,611 Size: 39,995 Coding Exon Count: 41 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:2,097,990-2,138,713)mRNA (may differ from genome)Protein (1807 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDHuman Cortex Gene ExpressionLynx
MGIneXtProtOMIMPubMedReactomeStanford SOURCE
TreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: TSC2_HUMAN
DESCRIPTION: RecName: Full=Tuberin; AltName: Full=Tuberous sclerosis 2 protein;
FUNCTION: In complex with TSC1, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Acts as a GTPase- activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling. Stimulates weakly the intrinsic GTPase activity of the Ras-related proteins RAP1A and RAB5 in vitro. Mutations in TSC2 lead to constitutive activation of RAP1A in tumors.
SUBUNIT: Interacts with TSC1 and HERC1; the interaction with TSC1 stabilizes TSC2 and prevents the interaction with HERC1. May also interact with the adapter molecule RABEP1. The final complex contains TSC2 and RABEP1 linked to RAB5 (Probable). Interacts with HSPA1 and HSPA8. Interacts with DAPK1 and FBXW5.
INTERACTION: P62136:PPP1CA; NbExp=2; IntAct=EBI-396587, EBI-357253; Q96EB6:SIRT1; NbExp=2; IntAct=EBI-396587, EBI-1802965; Q92574:TSC1; NbExp=7; IntAct=EBI-396587, EBI-1047085;
SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found in association with membranes.
TISSUE SPECIFICITY: Liver, brain, heart, lymphocytes, fibroblasts, biliary epithelium, pancreas, skeletal muscle, kidney, lung and placenta.
PTM: Phosphorylation at Ser-1387, Ser-1418 or Ser-1420 does not affect interaction with TSC1. Phosphorylation at Ser-939 and Thr- 1462 by PKB/AKT1 is induced by growth factor stimulation. Phosphorylation by AMPK activates it and leads to negatively regulates the mTORC1 complex. Phosphorylated at Ser-1798 by RPS6KA1; phosphorylation inhibits TSC2 ability to suppress mTORC1 signaling. Phosphorylated by DAPK1.
PTM: Ubiquitinated by the DCX(FBXW5) E3 ubiquitin-protein ligase complex, leading to its subsequent degradation.
DISEASE: Defects in TSC2 are the cause of tuberous sclerosis type 2 (TSC2) [MIM:613254]. TSC2 is an autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical symptoms can range from benign hypopigmented macules of the skin to profound mental retardation with intractable seizures to premature death from a variety of disease-associated causes.
DISEASE: Defects in TSC2 are a cause of lymphangioleiomyomatosis (LAM) [MIM:606690]. LAM is a progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.
SIMILARITY: Contains 1 Rap-GAP domain.
SEQUENCE CAUTION: Sequence=BAE06082.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TSC2ID184.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSC2";
WEB RESOURCE: Name=Tuberous sclerosis database Tuberous sclerosis 2 (TSC2); Note=Leiden Open Variation Database (LOVD); URL="http://www.LOVD.nl/TSC2";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TSC2
CDC HuGE Published Literature: TSC2
Positive Disease Associations: Longevity
Related Studies:
  1. Longevity
    Anatoliy I Yashin et al. Aging 2010, Joint influence of small-effect genetic variants on human longevity., Aging. [PubMed 20834067]

-  MalaCards Disease Associations
  MalaCards Gene Search: TSC2
Diseases sorted by gene-association score: lymphangioleiomyomatosis* (1619), tsc2 angiomyolipomas, renal, modifier of* (1300), focal cortical dysplasia, type ii, somatic* (693), tuberous sclerosis-1* (685), tuberous sclerosis* (499), infantile epileptic encephalopathy* (422), congenital heart defects, hamartomas of tongue, and polysyndactyly* (243), west syndrome* (165), chromosome 16p13.3 deletion syndrome* (100), angiomyolipoma (47), subependymal giant cell astrocytoma (37), kidney angiomyolipoma (28), perivascular epithelioid cell tumor (25), autosomal dominant polycystic kidney disease (20), lymphangiomatosis (18), polycystic kidney disease, infantile severe, with tuberous sclerosis* (18), subependymal glioma (18), benign ependymoma (17), kidney benign neoplasm (17), ganglioglioma (17), peutz-jeghers syndrome (14), cystic kidney disease (13), kidney cancer (10), polycystic kidney disease 1 (9), angiomatosis (9), cardiovascular cancer (8), pancreatic islet cell tumors (8), autistic disorder (8), acrofacial dysostosis (7), lung disease (7), multilocular clear cell renal cell carcinoma (7), heart cancer (6), polycystic kidney disease 4, with or without hepatic disease (6), lissencephaly with cerebellar hypoplasia (6), hereditary renal cell carcinoma (6), childhood kidney cell carcinoma (6), subependymoma (5), triple-receptor negative breast cancer (5), horseshoe kidney (5), von hippel-lindau syndrome (5), methylmalonic acidemia (5), uterine benign neoplasm (5), cowden disease (5), corneal fleck dystrophy (5), familial renal papillary carcinoma (4), reproductive organ benign neoplasm (4), breast papillary carcinoma (4), aortic disease (4), astrocytoma (4), neurofibromatosis, type 1 (4), renal cell carcinoma (3), focal epilepsy (3), autism spectrum disorder (2), autosomal genetic disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C006780 bisphenol A
  • D000082 Acetaminophen
  • D019256 Cadmium Chloride
  • C569670 1-(4-((2-(2-aminopyrimidin-5-yl)-7-methyl-4-morpholinothieno(3,2-d)pyrimidin-6-yl)methyl)piperazin-1-yl)-2-hydroxypropan-1-one
  • C078765 2,3,5-(triglutathion-S-yl)hydroquinone
  • C023514 2,6-dinitrotoluene
  • C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
  • C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid
  • C027576 4-hydroxy-2-nonenal
  • C075773 4-phenylbutyric acid
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.93 RPKM in Brain - Cerebellum
Total median expression: 974.28 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.70106-0.516 Picture PostScript Text
3' UTR -29.70102-0.291 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000331 - Rap_GAP
IPR003913 - Tuberin
IPR018515 - Tuberin-type_domain
IPR024584 - Tuberin_N

Pfam Domains:
PF02145 - Rap/ran-GAP
PF03542 - Tuberin
PF11864 - Domain of unknown function (DUF3384)

SCOP Domains:
48371 - ARM repeat
111347 - Rap/Ran-GAP (Pfam 02145)

ModBase Predicted Comparative 3D Structure on P49815
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0019902 phosphatase binding
GO:0031267 small GTPase binding
GO:0042803 protein homodimerization activity
GO:0051879 Hsp90 protein binding

Biological Process:
GO:0001843 neural tube closure
GO:0006469 negative regulation of protein kinase activity
GO:0006606 protein import into nucleus
GO:0006897 endocytosis
GO:0007507 heart development
GO:0008104 protein localization
GO:0008285 negative regulation of cell proliferation
GO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling
GO:0016032 viral process
GO:0016192 vesicle-mediated transport
GO:0016239 positive regulation of macroautophagy
GO:0030100 regulation of endocytosis
GO:0030178 negative regulation of Wnt signaling pathway
GO:0032007 negative regulation of TOR signaling
GO:0043276 anoikis
GO:0043491 protein kinase B signaling
GO:0043547 positive regulation of GTPase activity
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: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:1901525 negative regulation of macromitophagy

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0016020 membrane
GO:0033596 TSC1-TSC2 complex
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  KJ897707 - Synthetic construct Homo sapiens clone ccsbBroadEn_07101 TSC2 gene, encodes complete protein.
LF210725 - JP 2014500723-A/18228: Polycomb-Associated Non-Coding RNAs.
LF213808 - JP 2014500723-A/21311: Polycomb-Associated Non-Coding RNAs.
AB210000 - Homo sapiens mRNA for SLC9A3R2 variant protein, clone: eh00696.
AK294548 - Homo sapiens cDNA FLJ52486 complete cds, highly similar to Tuberin.
AK295672 - Homo sapiens cDNA FLJ59538 complete cds, highly similar to Tuberin.
AK299343 - Homo sapiens cDNA FLJ55876 complete cds, highly similar to Tuberin.
BC150300 - Homo sapiens tuberous sclerosis 2, mRNA (cDNA clone MGC:167048 IMAGE:8860381), complete cds.
BX647816 - Homo sapiens mRNA; cDNA DKFZp686N1252 (from clone DKFZp686N1252).
AK295728 - Homo sapiens cDNA FLJ59695 complete cds, highly similar to Tuberin.
X75621 - Homo sapiens TSC2 mRNA for tuberin.
JD230930 - Sequence 211954 from Patent EP1572962.
AB384359 - Synthetic construct DNA, clone: pF1KSDB0017, Homo sapiens TSC2 gene for tuberin, complete cds, without stop codon, in Flexi system.
LC224285 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-5.
LC224287 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-7.
LC224282 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-1.
LC224288 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-8.
LC224283 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-3.
LC224290 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-12.
LC224292 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-4-1.
LC224289 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-11.
LC224286 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-6.
LC224291 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-13.
LC224293 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-4-2.
KJ535039 - Homo sapiens clone TSC2_iso-E_adult-A09 tuberous sclerosis 2 isoform E (TSC2) mRNA, complete cds, alternatively spliced.
KJ534954 - Homo sapiens clone TSC2_iso-C_adult-A03 tuberous sclerosis 2 isoform C (TSC2) mRNA, partial cds, alternatively spliced.
KJ534955 - Homo sapiens clone TSC2_iso-D_adult-A16 tuberous sclerosis 2 isoform D (TSC2) mRNA, partial cds, alternatively spliced.
KJ534956 - Homo sapiens clone TSC2_iso-N_fetal-F06 tuberous sclerosis 2 isoform N (TSC2) mRNA, partial cds, alternatively spliced.
KJ534957 - Homo sapiens clone TSC2_iso-M_fetal-F12 tuberous sclerosis 2 isoform M (TSC2) mRNA, partial cds, alternatively spliced.
KJ534958 - Homo sapiens clone TSC2_iso-D_fetal-F14 tuberous sclerosis 2 isoform D (TSC2) mRNA, partial cds, alternatively spliced.
KJ534982 - Homo sapiens clone TSC2_iso-G_adult-A08 tuberous sclerosis 2 isoform G (TSC2) mRNA, partial cds, alternatively spliced.
KJ534983 - Homo sapiens clone TSC2_iso-O_fetal-F01 tuberous sclerosis 2 isoform O (TSC2) mRNA, partial cds, alternatively spliced.
KJ534984 - Homo sapiens clone TSC2_iso-J_fetal-F03 tuberous sclerosis 2 isoform J (TSC2) mRNA, partial cds, alternatively spliced.
KJ534985 - Homo sapiens clone TSC2_iso-P_fetal-F08 tuberous sclerosis 2 isoform P (TSC2) mRNA, partial cds, alternatively spliced.
KJ535011 - Homo sapiens clone TSC2_iso-L_fetal-F10 tuberous sclerosis 2 isoform L (TSC2) mRNA, complete cds, alternatively spliced.
KJ535022 - Homo sapiens clone TSC2_iso-K_adult-A15 tuberous sclerosis 2 isoform K (TSC2) mRNA, complete cds, alternatively spliced.
KJ535038 - Homo sapiens clone TSC2_iso-I_adult-A01 tuberous sclerosis 2 isoform I (TSC2) mRNA, complete cds, alternatively spliced.
KJ535051 - Homo sapiens clone TSC2_iso-H_adult-A02 tuberous sclerosis 2 isoform H (TSC2) mRNA, complete cds, alternatively spliced.
KJ535091 - Homo sapiens clone TSC2_iso-B_adult-A13 tuberous sclerosis 2 isoform B (TSC2) mRNA, complete cds, alternatively spliced.
KJ535094 - Homo sapiens clone TSC2_iso-F_fetal-F05 tuberous sclerosis 2 isoform F (TSC2) mRNA, complete cds, alternatively spliced.
LC224284 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-4.
LC224294 - Homo sapiens TSC2 mRNA for tuberin, complete cds, isolate: TSC2-4-3.
LF340724 - JP 2014500723-A/148227: Polycomb-Associated Non-Coding RNAs.
LF340723 - JP 2014500723-A/148226: Polycomb-Associated Non-Coding RNAs.
AK022401 - Homo sapiens cDNA FLJ12339 fis, clone MAMMA1002250.
LF340721 - JP 2014500723-A/148224: Polycomb-Associated Non-Coding RNAs.
LF340720 - JP 2014500723-A/148223: Polycomb-Associated Non-Coding RNAs.
AK125096 - Homo sapiens cDNA FLJ43106 fis, clone CTONG2016869, highly similar to Tuberin.
BC025364 - Homo sapiens, Similar to tuberous sclerosis 2, clone IMAGE:3687776, mRNA, partial cds.
BC046929 - Homo sapiens tuberous sclerosis 2, mRNA (cDNA clone IMAGE:3687567), partial cds.
LF340717 - JP 2014500723-A/148220: Polycomb-Associated Non-Coding RNAs.
LF340716 - JP 2014500723-A/148219: Polycomb-Associated Non-Coding RNAs.
LF340715 - JP 2014500723-A/148218: Polycomb-Associated Non-Coding RNAs.
LF340714 - JP 2014500723-A/148217: Polycomb-Associated Non-Coding RNAs.
LF340712 - JP 2014500723-A/148215: Polycomb-Associated Non-Coding RNAs.
LF340711 - JP 2014500723-A/148214: Polycomb-Associated Non-Coding RNAs.
LF340710 - JP 2014500723-A/148213: Polycomb-Associated Non-Coding RNAs.
AK094152 - Homo sapiens cDNA FLJ36833 fis, clone ASTRO2010819, highly similar to TUBERIN.
S82474 - TSC2=tuberous sclerosis complex locus 2 {exon 34 to exon 35 region} [human, blood, African-American tuberous sclerosis complex Duke 427 family pati, mRNA Partial, 95 nt].
JD185658 - Sequence 166682 from Patent EP1572962.
LF340707 - JP 2014500723-A/148210: Polycomb-Associated Non-Coding RNAs.
JD311259 - Sequence 292283 from Patent EP1572962.
LF214043 - JP 2014500723-A/21546: Polycomb-Associated Non-Coding RNAs.
MA449620 - JP 2018138019-A/21546: Polycomb-Associated Non-Coding RNAs.
MA446302 - JP 2018138019-A/18228: Polycomb-Associated Non-Coding RNAs.
MA449385 - JP 2018138019-A/21311: Polycomb-Associated Non-Coding RNAs.
MA576301 - JP 2018138019-A/148227: Polycomb-Associated Non-Coding RNAs.
MA576300 - JP 2018138019-A/148226: Polycomb-Associated Non-Coding RNAs.
MA576298 - JP 2018138019-A/148224: Polycomb-Associated Non-Coding RNAs.
MA576297 - JP 2018138019-A/148223: Polycomb-Associated Non-Coding RNAs.
MA576294 - JP 2018138019-A/148220: Polycomb-Associated Non-Coding RNAs.
MA576293 - JP 2018138019-A/148219: Polycomb-Associated Non-Coding RNAs.
MA576292 - JP 2018138019-A/148218: Polycomb-Associated Non-Coding RNAs.
MA576291 - JP 2018138019-A/148217: Polycomb-Associated Non-Coding RNAs.
MA576289 - JP 2018138019-A/148215: Polycomb-Associated Non-Coding RNAs.
MA576288 - JP 2018138019-A/148214: Polycomb-Associated Non-Coding RNAs.
MA576287 - JP 2018138019-A/148213: Polycomb-Associated Non-Coding RNAs.
MA576284 - JP 2018138019-A/148210: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04115 - p53 signaling pathway
hsa04150 - mTOR signaling pathway
hsa04910 - Insulin signaling pathway

BioCarta from NCI Cancer Genome Anatomy Project
h_vdrPathway - Control of Gene Expression by Vitamin D Receptor
h_mTORPathway - mTOR Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein P49815 (Reactome details) participates in the following event(s):

R-HSA-165162 Phosphorylation of TSC2 by PKB
R-HSA-5632732 p-S939,T1462-TSC2 binding to 14-3-3 dimer is negatively regulated by DDIT4
R-HSA-198609 AKT phosphorylates TSC2, inhibiting it
R-HSA-2399982 AKT1 E17K mutant phosphorylates TSC2, inhibiting it
R-HSA-165179 Formation of TSC1:TSC2 complex
R-HSA-165182 Phosphorylation of complexed TSC2 by PKB
R-HSA-380927 p-AMPK phosphorylates TSC1:TSC2
R-HSA-8854302 TBC1D7 binds the TSC1-TSC2 complex
R-HSA-165181 Inhibition of TSC complex formation by PKB
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-198323 AKT phosphorylates targets in the cytosol
R-HSA-5674400 Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-165159 mTOR signalling
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-2219528 PI3K/AKT Signaling in Cancer
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-8854214 TBC/RABGAPs
R-HSA-162582 Signal Transduction
R-HSA-212436 Generic Transcription Pathway
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-5663202 Diseases of signal transduction
R-HSA-9007101 Rab regulation of trafficking
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1643685 Disease
R-HSA-199991 Membrane Trafficking
R-HSA-74160 Gene expression (Transcription)
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A7E2E2, B4DIQ7, B4DRN2, C9J378, NM_000548, NP_000539, O75275, P49815, Q4LE71, Q8TAZ1, TSC2_HUMAN, TSC4
UCSC ID: uc002con.3
RefSeq Accession: NM_000548
Protein: P49815 (aka TSC2_HUMAN)
CCDS: CCDS10458.1, CCDS45384.1, CCDS58408.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TSC2:
tuberous-sclerosis (Tuberous Sclerosis Complex)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_000548.3
exon count: 42CDS single in 3' UTR: no RNA size: 5675
ORF size: 5424CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 11048.00frame shift in genome: no % Coverage: 99.24
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.