TSC2

TSC2
Identifiers
Aliases	TSC2, LAM, PPP1R160, TSC4, tuberous sclerosis 2, TSC complex subunit 2
External IDs	OMIM: 191092; MGI: 102548; HomoloGene: 462; GeneCards: TSC2; OMA:TSC2 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 2,047,967 bp[1] End 2,089,491 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 A3.3|17 12.41 cM Start 24,814,790 bp[2] End 24,851,604 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum anterior pituitary right uterine tube right lobe of thyroid gland sural nerve left lobe of thyroid gland right testis left testis right frontal lobe left ovary Top expressed in tail of embryo genital tubercle superior frontal gyrus dentate gyrus of hippocampal formation granule cell primary visual cortex neural layer of retina muscle of thigh cardiac muscle tissue of left ventricle ventricular zone CA3 field More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatase binding protein homodimerization activity GTPase activator activity small GTPase binding protein binding Hsp90 protein binding Cellular component cytoplasm cytosol Golgi apparatus membrane TSC1-TSC2 complex perinuclear region of cytoplasm lysosome nucleus postsynaptic density Biological process regulation of endocytosis protein localization insulin-like growth factor receptor signaling pathway negative regulation of protein kinase B signaling endocytosis protein import into nucleus negative regulation of protein kinase activity negative regulation of Wnt signaling pathway negative regulation of phosphatidylinositol 3-kinase signaling regulation of cell cycle heart development positive regulation of GTPase activity neural tube closure negative regulation of insulin receptor signaling pathway positive chemotaxis viral process regulation of small GTPase mediated signal transduction vesicle-mediated transport negative regulation of cell population proliferation regulation of insulin receptor signaling pathway positive regulation of macroautophagy anoikis negative regulation of mitophagy negative regulation of TOR signaling protein kinase B signaling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7249 22084 Ensembl ENSG00000103197 ENSMUSG00000002496 UniProt P49815 Q61037 RefSeq (mRNA) NM_000548 NM_001077183 NM_001114382 NM_021055 NM_021056 NM_001318827 NM_001318829 NM_001318831 NM_001318832 NM_001363528 NM_001370404 NM_001370405 NM_001039363 NM_001286713 NM_001286714 NM_001286716 NM_001286718 NM_001286720 NM_011647 RefSeq (protein) NP_000539 NP_001070651 NP_001107854 NP_001305756 NP_001305758 NP_001305760 NP_001305761 NP_066399 NP_001350457 NP_001357333 NP_001357334 n/a Location (UCSC) Chr 16: 2.05 – 2.09 Mb Chr 17: 24.81 – 24.85 Mb PubMed search [3] [4]
Wikidata
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Tuberous sclerosis complex 2 (TSC2), also known as tuberin, is a protein that in humans is encoded by the TSC2 gene.