C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: tuberous sclerosis 2
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000103197 TSC2 9606 + 16:2047465-2088720 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000219476 TSC2-001 2047465-2088712 protein_coding
  ENST00000350773 TSC2-004 2048020-2088712 protein_coding
  ENST00000382538 TSC2-007 2047980-2088700 protein_coding
  ENST00000401874 TSC2-003 2047989-2088702 protein_coding
  ENST00000432909 TSC2-020 2053433-2055520 protein_coding
  ENST00000439117 TSC2-002 2048033-2088703 nonsense_mediated_decay
  ENST00000439673 TSC2-017 2048014-2088701 protein_coding
  ENST00000461648 TSC2-008 2047990-2054082 retained_intron
  ENST00000463601 TSC2-010 2061589-2063047 retained_intron
  ENST00000463808 TSC2-013 2072595-2074652 retained_intron
  ENST00000467949 TSC2-009 2056161-2063046 protein_coding
  ENST00000471143 TSC2-014 2076158-2079623 nonsense_mediated_decay
  ENST00000483020 TSC2-015 2076147-2079595 nonsense_mediated_decay
  ENST00000488675 TSC2-012 2065413-2071897 retained_intron
  ENST00000490108 TSC2-011 2062838-2065628 retained_intron
  ENST00000497886 TSC2-005 2078239-2088711 retained_intron
  ENST00000561695 TSC2-025 2078920-2079602 retained_intron
  ENST00000562474 TSC2-027 2066229-2071534 processed_transcript
  ENST00000563346 TSC2-023 2071769-2074328 retained_intron
  ENST00000568238 TSC2-022 2064071-2065583 retained_intron
  ENST00000568366 TSC2-024 2077404-2080177 processed_transcript
  ENST00000568454 TSC2-006 2048202-2088720 protein_coding
  ENST00000568566 TSC2-021 2062518-2071572 nonsense_mediated_decay
  ENST00000568692 TSC2-026 2054296-2055892 retained_intron
  ENST00000569110 TSC2-019 2083190-2088691 protein_coding
  ENST00000569930 TSC2-016 2082697-2088692 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000219476ENST00000382538ENST00000401874ENST00000439117ENST00000439673ENST00000461648ENST00000568454ENST00000569110
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000219476 N/A N/A N/A N/A N/A N/A N/A 1.108±0.00 N/A N/A N/A 2.461±0.00 N/A N/A
ENST00000382538 4.578±0.00 N/A N/A N/A N/A N/A N/A 7.725±0.00 3.279±0.00 N/A 11.021±0.00 N/A 5.511±0.17 15.921±0.00
ENST00000401874 7.037±0.00 8.364±0.00 N/A 9.052±4.87 6.520±3.21 3.243±0.00 5.219±3.91 1.648±0.00 3.074±0.00 9.488±0.00 11.599±0.00 29.887±0.00 5.628±0.62 15.100±1.10
ENST00000439117 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 12.660±0.00 N/A 6.464±0.00 14.999±0.00
ENST00000439673 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 4.257±0.00 N/A
ENST00000461648 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 17.710±0.00 66.473±0.00
ENST00000568454 N/A N/A 2.688±0.00 N/A N/A N/A N/A N/A N/A 1.830±0.00 2.908±0.00 N/A N/A N/A
ENST00000569110 N/A N/A N/A N/A 21.631±0.00 23.481±0.00 N/A 18.345±0.00 14.709±0.00 N/A N/A N/A N/A 47.542±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00029D CIL_00029D_0002 CGP 16:2047465-2135898

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001666 IEA response to hypoxia
GO:0001843 ISS neural tube closure
GO:0005096 IDA:IEA GTPase activator activity
GO:0005488 IEA binding
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005737 IDA cytoplasm
GO:0005794 IDA Golgi apparatus
GO:0005829 IDA cytosol
GO:0005856 IEA cytoskeleton
GO:0005901 IEA caveola
GO:0006469 ISS negative regulation of protein kinase activity
GO:0006606 ISS protein import into nucleus
GO:0006897 TAS endocytosis
GO:0006953 IEA acute-phase response
GO:0007050 TAS cell cycle arrest
GO:0007165 IEA signal transduction
GO:0007173 TAS epidermal growth factor receptor signaling pathway
GO:0007507 ISS heart development
GO:0008104 ISS protein localization
GO:0008285 ISS negative regulation of cell proliferation
GO:0008286 TAS insulin receptor signaling pathway
GO:0008543 TAS fibroblast growth factor receptor signaling pathway
GO:0014065 IEA phosphatidylinositol 3-kinase signaling
GO:0014067 ISS negative regulation of phosphatidylinositol 3-kinase signaling
GO:0016020 IDA membrane
GO:0016192 TAS vesicle-mediated transport
GO:0019902 IDA phosphatase binding
GO:0030030 IEA cell projection organization
GO:0030100 ISS regulation of endocytosis
GO:0030178 IBA negative regulation of Wnt signaling pathway
GO:0030425 IEA dendrite
GO:0030426 IEA growth cone
GO:0032007 IBA negative regulation of TOR signaling
GO:0032320 IBA positive regulation of Ras GTPase activity
GO:0032869 IEA cellular response to insulin stimulus
GO:0033596 IDA TSC1-TSC2 complex
GO:0038095 TAS Fc-epsilon receptor signaling pathway
GO:0042803 IPI protein homodimerization activity
GO:0043005 IEA neuron projection
GO:0043025 IEA neuronal cell body
GO:0043231 IEA intracellular membrane-bounded organelle
GO:0043234 IEA protein complex
GO:0043407 IEA negative regulation of MAP kinase activity
GO:0043491 ISS protein kinase B signaling
GO:0043547 IEA positive regulation of GTPase activity
GO:0044861 IEA protein transport into plasma membrane raft
GO:0045087 TAS innate immune response
GO:0045121 IEA membrane raft
GO:0045184 IEA establishment of protein localization
GO:0045792 IEA negative regulation of cell size
GO:0045944 IEA positive regulation of transcription from RNA polymerase II promoter
GO:0046323 IEA glucose import
GO:0046626 ISS regulation of insulin receptor signaling pathway
GO:0046627 IBA negative regulation of insulin receptor signaling pathway
GO:0046982 IEA protein heterodimerization activity
GO:0048009 ISS insulin-like growth factor receptor signaling pathway
GO:0048011 TAS neurotrophin TRK receptor signaling pathway
GO:0048015 TAS phosphatidylinositol-mediated signaling
GO:0048471 IDA perinuclear region of cytoplasm
GO:0050680 IEA negative regulation of epithelial cell proliferation
GO:0050918 ISS positive chemotaxis
GO:0051056 IEA regulation of small GTPase mediated signal transduction
GO:0051260 IEA protein homooligomerization
GO:0051291 IEA protein heterooligomerization
GO:0051726 IBA regulation of cell cycle
GO:0051898 ISS negative regulation of protein kinase B signaling
GO:0071889 IEA 14-3-3 protein binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000086415 tsc2 tuberous sclerosis 2 protein_coding Danio_rerio
ENSMUSG00000002496 Tsc2 tuberous sclerosis 2 protein_coding Mus_musculus

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