TSC2
TSC complex subunit 2 | LAM, PPP1R160, tuberin, TSC4

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. This TSC protein complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

Developmental clusters: GC6
Biological processes 55 terms
GTPase activator activity (GO:0005096)GTPase activator activity (GO:0005096)GTPase activator activity (GO:0005096)Golgi apparatus (GO:0005794)Golgi apparatus (GO:0005794)Hsp90 protein binding (GO:0051879)TSC1-TSC2 complex (GO:0033596)TSC1-TSC2 complex (GO:0033596)TSC1-TSC2 complex (GO:0033596)anoikis (GO:0043276)cellular response to starvation (GO:0009267)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytoplasm (GO:0005737)cytosol (GO:0005829)cytosol (GO:0005829)cytosol (GO:0005829)endocytosis (GO:0006897)heart development (GO:0007507)intracellular protein localization (GO:0008104)lysosomal membrane (GO:0005765)lysosomal membrane (GO:0005765)lysosome (GO:0005764)membrane (GO:0016020)membrane (GO:0016020)negative regulation of TOR signaling (GO:0032007)negative regulation of TOR signaling (GO:0032007)negative regulation of TOR signaling (GO:0032007)negative regulation of TORC1 signaling (GO:1904262)negative regulation of TORC1 signaling (GO:1904262)negative regulation of cell population proliferation (GO:0008285)negative regulation of mitophagy (GO:1901525)negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051898)neural tube closure (GO:0001843)nucleus (GO:0005634)nucleus (GO:0005634)perinuclear region of cytoplasm (GO:0048471)phosphatase binding (GO:0019902)positive chemotaxis (GO:0050918)positive regulation of macroautophagy (GO:0016239)positive regulation of macroautophagy (GO:0016239)postsynaptic density (GO:0014069)postsynaptic density (GO:0014069)protein binding (GO:0005515)protein homodimerization activity (GO:0042803)protein import into nucleus (GO:0006606)regulation of cell cycle (GO:0051726)regulation of endocytosis (GO:0030100)regulation of insulin receptor signaling pathway (GO:0046626)regulation of macroautophagy (GO:0016241)regulation of small GTPase mediated signal transduction (GO:0051056)small GTPase binding (GO:0031267)small GTPase-mediated signal transduction (GO:0007264)synapse (GO:0045202)vesicle-mediated transport (GO:0016192)
Expression (TPM)
TSC2 — as a Regulated Gene

TFs regulating TSC2 0 TFs

Transcription factors with Perturb-seq knockdown data for TSC2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = TSC2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.

Data: Effect:
TF Mean coef Binding Outlier TF→Gene link

Elements linked to TSC2

Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of TSC2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.

Accessibility Element Dist. to TSS Link type TFs
chr16:1,763,511–1,764,353 284.0 kb Distal (>10kb) Multiome 261
chr16:1,770,847–1,771,973 276.4 kb Distal (>10kb) Multiome 485
chr16:1,772,565–1,774,049 274.6 kb Distal (>10kb) Multiome 956
chr16:1,781,749–1,783,420 265.3 kb Distal (>10kb) Multiome 761
chr16:1,826,102–1,827,535 221.1 kb Distal (>10kb) Multiome 1006
chr16:1,918,171–1,918,773 129.6 kb Distal (>10kb) Multiome 129
chr16:1,929,283–1,930,271 118.2 kb Distal (>10kb) Multiome 780
chr16:1,942,671–1,943,761 104.6 kb Distal (>10kb) Multiome 750
chr16:1,958,923–1,960,140 88.5 kb Distal (>10kb) Multiome 826
chr16:1,964,300–1,965,434 83.1 kb Distal (>10kb) Multiome 933
chr16:1,971,481–1,972,435 76.0 kb Distal (>10kb) Multiome 1010
chr16:1,979,111–1,980,324 68.6 kb Distal (>10kb) Multiome 296
chr16:1,983,450–1,984,851 64.1 kb Distal (>10kb) Multiome 917
chr16:1,989,307–1,993,568 55.6 kb Distal (>10kb) Multiome 706
chr16:2,003,882–2,004,348 44.0 kb Distal (>10kb) Multiome 619
chr16:2,009,742–2,010,504 38.1 kb Distal (>10kb) Multiome 752
chr16:2,022,700–2,023,923 24.7 kb Distal (>10kb) Multiome 682
chr16:2,026,629–2,027,149 21.1 kb Distal (>10kb) Multiome 249
chr16:2,047,366–2,048,252 142 bp At TSS Multiome 875
chr16:2,090,476–2,092,232 43.3 kb Distal (>10kb) Multiome 344
chr16:2,135,536–2,136,505 88.1 kb Distal (>10kb) Multiome 263
chr16:2,147,864–2,149,260 100.5 kb Distal (>10kb) Multiome 679
chr16:2,149,550–2,152,180 103.1 kb Distal (>10kb) Multiome 618
chr16:2,152,861–2,153,999 105.7 kb Distal (>10kb) Multiome 734
chr16:2,154,834–2,156,329 107.6 kb Distal (>10kb) Multiome 932
chr16:2,178,140–2,179,722 130.8 kb Distal (>10kb) Multiome 318
chr16:2,205,129–2,206,297 157.5 kb Distal (>10kb) Multiome 887
chr16:2,214,212–2,215,803 167.0 kb Distal (>10kb) Multiome 953
chr16:2,223,095–2,224,285 175.5 kb Distal (>10kb) Multiome 918
chr16:2,251,044–2,252,460 203.7 kb Distal (>10kb) Multiome 996
chr16:2,267,625–2,269,111 220.3 kb Distal (>10kb) Multiome 1044
chr16:2,339,631–2,342,283 292.8 kb Distal (>10kb) Multiome 1129

Genome Browser

Genomic view of the TSC2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.

chr16:1,753,511 – 2,352,283
Proximal 1 kb Distal 10 kb Multiome HiCAR ATAC-seq RNA-seq
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