Details for: TSC2

Gene ID: 7249

Symbol: TSC2

Ensembl ID: ENSG00000103197

Description: TSC complex subunit 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 198.2703
    Cell Significance Index: -30.8400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 118.9465
    Cell Significance Index: -30.1700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 66.9741
    Cell Significance Index: -31.6200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 65.8942
    Cell Significance Index: -26.7700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 59.0997
    Cell Significance Index: -30.4000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 28.0599
    Cell Significance Index: -26.7900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 25.9214
    Cell Significance Index: -31.9600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 10.7546
    Cell Significance Index: -28.8100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.1449
    Cell Significance Index: -32.1400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.7911
    Cell Significance Index: -23.9300
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.8446
    Cell Significance Index: -14.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.2159
    Cell Significance Index: 16.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9617
    Cell Significance Index: 104.6000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.9074
    Cell Significance Index: 25.3600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9059
    Cell Significance Index: 179.7800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9053
    Cell Significance Index: 147.2400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8986
    Cell Significance Index: 180.2600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.8693
    Cell Significance Index: 52.1900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6762
    Cell Significance Index: 35.2200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6305
    Cell Significance Index: 18.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.6114
    Cell Significance Index: 39.4500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5926
    Cell Significance Index: 26.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5482
    Cell Significance Index: 54.2300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5056
    Cell Significance Index: 181.3500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4932
    Cell Significance Index: 34.1100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4721
    Cell Significance Index: 22.0100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4090
    Cell Significance Index: 73.7400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4039
    Cell Significance Index: 55.4600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3663
    Cell Significance Index: 9.9700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3420
    Cell Significance Index: 42.0600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.3334
    Cell Significance Index: 2.5700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.3319
    Cell Significance Index: 20.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3101
    Cell Significance Index: 16.1100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3085
    Cell Significance Index: 58.7000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2975
    Cell Significance Index: 162.4600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2875
    Cell Significance Index: 36.8600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2512
    Cell Significance Index: 6.2800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2213
    Cell Significance Index: 97.8500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2184
    Cell Significance Index: 151.0700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.2179
    Cell Significance Index: 11.4400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1850
    Cell Significance Index: 14.2000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.1774
    Cell Significance Index: 2.2000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1514
    Cell Significance Index: 5.3200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.1258
    Cell Significance Index: 1.5000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1053
    Cell Significance Index: 6.4700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0956
    Cell Significance Index: 11.2700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0914
    Cell Significance Index: 6.8100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0855
    Cell Significance Index: 4.0200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0567
    Cell Significance Index: 104.6100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0450
    Cell Significance Index: 84.7100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0409
    Cell Significance Index: 62.9400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0327
    Cell Significance Index: 0.5600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0279
    Cell Significance Index: 25.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0138
    Cell Significance Index: 8.7500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0080
    Cell Significance Index: 1.3600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0047
    Cell Significance Index: 6.4100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0026
    Cell Significance Index: 1.1600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0009
    Cell Significance Index: -0.6800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0318
    Cell Significance Index: -24.0400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0361
    Cell Significance Index: -26.7600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0370
    Cell Significance Index: -0.6200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0389
    Cell Significance Index: -5.0300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0460
    Cell Significance Index: -1.6000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0461
    Cell Significance Index: -25.9900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0566
    Cell Significance Index: -35.3300
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0645
    Cell Significance Index: -1.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0760
    Cell Significance Index: -5.1100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0779
    Cell Significance Index: -7.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0779
    Cell Significance Index: -8.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0816
    Cell Significance Index: -4.5800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0822
    Cell Significance Index: -1.7500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0922
    Cell Significance Index: -4.0800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0947
    Cell Significance Index: -27.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1121
    Cell Significance Index: -7.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1123
    Cell Significance Index: -13.0900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1223
    Cell Significance Index: -17.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1455
    Cell Significance Index: -5.5100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1614
    Cell Significance Index: -34.0100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.1812
    Cell Significance Index: -2.3200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1879
    Cell Significance Index: -4.3400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2347
    Cell Significance Index: -6.2900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2499
    Cell Significance Index: -5.2300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2629
    Cell Significance Index: -27.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2745
    Cell Significance Index: -7.3300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2875
    Cell Significance Index: -7.5600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3203
    Cell Significance Index: -10.2600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3380
    Cell Significance Index: -7.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3460
    Cell Significance Index: -27.4000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3672
    Cell Significance Index: -7.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4376
    Cell Significance Index: -26.8300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4398
    Cell Significance Index: -12.5500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4725
    Cell Significance Index: -12.1500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.4829
    Cell Significance Index: -11.5800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5351
    Cell Significance Index: -15.3400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5477
    Cell Significance Index: -10.6900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.6113
    Cell Significance Index: -19.4700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6193
    Cell Significance Index: -15.8200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.6536
    Cell Significance Index: -21.4000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6537
    Cell Significance Index: -17.4900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6888
    Cell Significance Index: -12.7300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The TSC2 gene is a tumor suppressor gene that is involved in the regulation of cell growth and proliferation. It is a member of the TSC complex, which consists of two subunits: TSC1 and TSC2. The TSC2 gene is expressed in various tissues, including the brain, kidneys, and lungs. Mutations in the TSC2 gene have been associated with several human cancers, including renal cell carcinoma, pancreatic cancer, and LAM. The TSC2 gene is also involved in various cellular processes, including autophagy, endocytosis, and cell cycle regulation. **Pathways and Functions** The TSC2 gene plays a critical role in the regulation of the mTOR pathway, which is a key regulator of cell growth and proliferation. The TSC complex, which consists of TSC1 and TSC2, inhibits the mTOR pathway by phosphorylating and inhibiting the activity of the mTORC1 complex. The TSC2 gene is also involved in various other cellular processes, including: 1. **Autophagy**: The TSC2 gene is involved in the regulation of autophagy, a process by which cells recycle damaged or dysfunctional cellular components. 2. **Endocytosis**: The TSC2 gene is involved in the regulation of endocytosis, a process by which cells internalize external molecules. 3. **Cell cycle regulation**: The TSC2 gene is involved in the regulation of the cell cycle, a process by which cells divide and replicate. 4. **Insulin-like growth factor receptor signaling pathway**: The TSC2 gene is involved in the regulation of the insulin-like growth factor receptor signaling pathway, a pathway that regulates cell growth and proliferation. 5. **Golgi apparatus**: The TSC2 gene is involved in the regulation of the Golgi apparatus, a complex organelle that plays a critical role in protein modification and secretion. **Clinical Significance** Mutations in the TSC2 gene have been associated with several human cancers, including: 1. **Renal cell carcinoma**: Mutations in the TSC2 gene have been associated with an increased risk of developing renal cell carcinoma, a type of kidney cancer. 2. **Pancreatic cancer**: Mutations in the TSC2 gene have been associated with an increased risk of developing pancreatic cancer, a type of cancer that originates in the pancreas. 3. **Lymphangioleiomyomatosis (LAM)**: Mutations in the TSC2 gene have been associated with an increased risk of developing LAM, a rare lung disease that affects women of childbearing age. 4. **Neurofibromatosis type 2**: Mutations in the TSC2 gene have been associated with an increased risk of developing neurofibromatosis type 2, a genetic disorder that affects the nervous system. In addition to its role in cancer, the TSC2 gene is also involved in various other diseases, including: 1. **Autism spectrum disorder**: Mutations in the TSC2 gene have been associated with an increased risk of developing autism spectrum disorder. 2. **Tuberous sclerosis complex**: Mutations in the TSC2 gene have been associated with an increased risk of developing tuberous sclerosis complex, a genetic disorder that affects multiple organs and systems. Overall, the TSC2 gene plays a critical role in the regulation of cell growth and proliferation, and its dysregulation has been associated with several human cancers and other diseases.

Genular Protein ID: 2256375313

Symbol: TSC2_HUMAN

Name: N/A

UniProtKB Accession Codes:

P49815 A7E2E2 B4DIL8 B4DIQ7 B4DRN2 B7Z2B8 C9J378 O75275 Q4LE71 Q8TAZ1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 7 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 44 EMDB 4 Ensembl 7 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 Pumba 1 RNAct 1 Reactome 7 RefSeq 9 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8269512

Title: Identification and characterization of the tuberous sclerosis gene on chromosome 16.

PubMed ID: 8269512

DOI: 10.1016/0092-8674(93)90618-z

PubMed ID: 7558029

Title: Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.

PubMed ID: 7558029

DOI: 10.1006/geno.1995.1079

PubMed ID: 8789450

Title: Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.

PubMed ID: 8789450

DOI: 10.1093/hmg/5.1.131

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

DOI: 10.1038/ncomms4650

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9831664

Title: Genomic structure and sequence of a human homologue (NTHL1/NTH1) of Escherichia coli endonuclease III with those of the adjacent parts of TSC2 and SLC9A3R2 genes.

PubMed ID: 9831664

DOI: 10.1016/s0378-1119(98)00485-5

PubMed ID: 9045618

Title: The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis.

PubMed ID: 9045618

DOI: 10.1074/jbc.272.10.6097

PubMed ID: 9580671

Title: Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

PubMed ID: 9580671

DOI: 10.1093/hmg/7.6.1053

PubMed ID: 10585443

Title: Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin.

PubMed ID: 10585443

DOI: 10.1074/jbc.274.50.35647

PubMed ID: 11829138

Title: Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.

PubMed ID: 11829138

DOI: 10.1007/s10038-002-8651-8

PubMed ID: 12150915

Title: Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway.

PubMed ID: 12150915

DOI: 10.1016/s1097-2765(02)00568-3

PubMed ID: 12172553

Title: TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling.

PubMed ID: 12172553

DOI: 10.1038/ncb839

PubMed ID: 12271141

Title: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling.

PubMed ID: 12271141

DOI: 10.1073/pnas.202476899

PubMed ID: 14651849

Title: TSC2 mediates cellular energy response to control cell growth and survival.

PubMed ID: 14651849

DOI: 10.1016/s0092-8674(03)00929-2

PubMed ID: 12906785

Title: Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb.

PubMed ID: 12906785

DOI: 10.1016/s0960-9822(03)00506-2

PubMed ID: 12842888

Title: Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin- and farnesylation-dependent manner.

PubMed ID: 12842888

DOI: 10.1074/jbc.c300226200

PubMed ID: 12820960

Title: Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2.

PubMed ID: 12820960

DOI: 10.1016/s1097-2765(03)00220-x

PubMed ID: 15340059

Title: Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity.

PubMed ID: 15340059

DOI: 10.1128/mcb.24.18.7965-7975.2004

PubMed ID: 15342917

Title: Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase.

PubMed ID: 15342917

DOI: 10.1073/pnas.0405659101

PubMed ID: 15963462

Title: Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.

PubMed ID: 15963462

DOI: 10.1016/j.bbrc.2005.05.175

PubMed ID: 16464865

Title: TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase.

PubMed ID: 16464865

DOI: 10.1074/jbc.c500451200

PubMed ID: 18407068

Title: Human cytomegalovirus protein UL38 inhibits host cell stress responses by antagonizing the tuberous sclerosis protein complex.

PubMed ID: 18407068

DOI: 10.1016/j.chom.2008.03.002

PubMed ID: 18308511

Title: Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.

PubMed ID: 18308511

DOI: 10.1016/j.cellsig.2008.01.020

PubMed ID: 18381890

Title: WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase.

PubMed ID: 18381890

DOI: 10.1101/gad.1624008

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 18974095

Title: Peptide combinatorial libraries identify TSC2 as a death-associated protein kinase (DAPK) death domain-binding protein and reveal a stimulatory role for DAPK in mTORC1 signaling.

PubMed ID: 18974095

DOI: 10.1074/jbc.m805165200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 20145209

Title: ARD1 stabilization of TSC2 suppresses tumorigenesis through the mTOR signaling pathway.

PubMed ID: 20145209

DOI: 10.1126/scisignal.2000590

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22795129

Title: TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.

PubMed ID: 22795129

DOI: 10.1016/j.molcel.2012.06.009

PubMed ID: 22819219

Title: An autoinhibited noncanonical mechanism of GTP hydrolysis by Rheb maintains mTORC1 homeostasis.

PubMed ID: 22819219

DOI: 10.1016/j.str.2012.06.013

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24529379

Title: Spatial control of the TSC complex integrates insulin and nutrient regulation of mTORC1 at the lysosome.

PubMed ID: 24529379

DOI: 10.1016/j.cell.2013.11.049

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25936802

Title: The ubiquitination of RagA GTPase by RNF152 negatively regulates mTORC1 activation.

PubMed ID: 25936802

DOI: 10.1016/j.molcel.2015.03.033

PubMed ID: 27278822

Title: The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway.

PubMed ID: 27278822

DOI: 10.1038/ncomms11803

PubMed ID: 28215400

Title: Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia.

PubMed ID: 28215400

DOI: 10.1016/j.ajhg.2017.01.030

PubMed ID: 29127155

Title: Tumor suppressor Tsc1 is a new Hsp90 co-chaperone that facilitates folding of kinase and non-kinase clients.

PubMed ID: 29127155

DOI: 10.15252/embj.201796700

PubMed ID: 28561026

Title: R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein.

PubMed ID: 28561026

DOI: 10.1038/ncomms15615

PubMed ID: 28561066

Title: WIPI3 and WIPI4 beta-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.

PubMed ID: 28561066

DOI: 10.1038/ncomms15637

PubMed ID: 33473107

Title: Endonuclease G promotes autophagy by suppressing mTOR signaling and activating the DNA damage response.

PubMed ID: 33473107

DOI: 10.1038/s41467-020-20780-2

PubMed ID: 35772404

Title: The mTORC1-SLC4A7 axis stimulates bicarbonate import to enhance de novo nucleotide synthesis.

PubMed ID: 35772404

DOI: 10.1016/j.molcel.2022.06.008

PubMed ID: 33436626

Title: Structural insights into TSC complex assembly and GAP activity on Rheb.

PubMed ID: 33436626

DOI: 10.1038/s41467-020-20522-4

PubMed ID: 8824881

Title: Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

PubMed ID: 8824881

DOI: 10.1093/hmg/5.2.249

PubMed ID: 9302281

Title: The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.

PubMed ID: 9302281

DOI: 10.1093/hmg/6.11.1991

PubMed ID: 9463313

Title: Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.

PubMed ID: 9463313

DOI: 10.1086/301705

PubMed ID: 9829910

Title: Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.

PubMed ID: 9829910

DOI: 10.1002/(sici)1098-1004(1998)12:6<408::aid-humu7>3.0.co;2-p

PubMed ID: 10732801

Title: Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.

PubMed ID: 10732801

DOI: 10.1007/s100480050039

PubMed ID: 10205261

Title: Comprehensive mutation analysis of TSC1 and TSC2- and phenotypic correlations in 150 families with tuberous sclerosis.

PubMed ID: 10205261

DOI: 10.1086/302381

PubMed ID: 10069705

Title: Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

PubMed ID: 10069705

DOI: 10.1002/(sici)1096-8628(19990219)82:5<368::aid-ajmg2>3.0.co;2-i

PubMed ID: 10735580

Title: Superiority of denaturing high performance liquid chromatography over single-stranded conformation and conformation-sensitive gel electrophoresis for mutation detection in TSC2.

PubMed ID: 10735580

DOI: 10.1046/j.1469-1809.1999.6350383.x

PubMed ID: 10533067

Title: Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

PubMed ID: 10533067

DOI: 10.1002/(sici)1098-1004(199911)14:5<412::aid-humu7>3.0.co;2-k

PubMed ID: 10570911

Title: Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

PubMed ID: 10570911

DOI: 10.1007/s100380050185

PubMed ID: 10607950

Title: Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations.

PubMed ID: 10607950

DOI: 10.1002/(sici)1096-8628(20000117)90:2<123::aid-ajmg7>3.3.co;2-c

PubMed ID: 10823953

Title: Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

PubMed ID: 10823953

DOI: 10.1073/pnas.97.11.6085

PubMed ID: 15024740

Title: Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

PubMed ID: 15024740

DOI: 10.1002/humu.9225

PubMed ID: 15595939

Title: Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.

PubMed ID: 15595939

DOI: 10.1111/j.1600-0404.2004.00366.x

Sequence Information:

  • Length: 1807
  • Mass: 200608
  • Checksum: 7B915C46970D7D31
  • Sequence:
    • MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 
IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERPLEARHA VLALLKAIVQ GQGERLGVLR 
ALFFKVIKDY PSNEDLHERL EVFKALTDNG RHITYLEEEL ADFVLQWMDV GLSSEFLLVL 
VNLVKFNSCY LDEYIARMVQ MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI 
VTLCRTINVK ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 
MALWGAHRLY SLRNSPTSVL PSFYQAMACP NEVVSYEIVL SITRLIKKYR KELQVVAWDI 
LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF HGSQERYFEL VERCADQRPE 
SSLLNLISYR AQSIHPAKDG WIQNLQALME RFFRSESRGA VRIKVLDVLS FVLLINRQFY 
EEELINSVVI SQLSHIPEDK DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS 
PPPELEERDV AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 
SYTLPIASSI RLQAFDFLLL LRADSLHRLG LPNKDGVVRF SPYCVCDYME PERGSEKKTS 
GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE SDWKVLKLVL GRLPESLRYK 
VLIFTSPCSV DQLCSALCSM LSGPKTLERL RGAPEGFSRT DLHLAVVPVL TALISYHNYL 
DKTKQREMVY CLEQGLIHRC ASQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA 
VPLLEFLSTL ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 
RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKSLRIA RPPKQGLNNS 
PPVKEFKESS AAEAFRCRSI SVSEHVVRSR IQTSLTSASL GSADENSVAQ ADDSLKNLHL 
ELTETCLDMM ARYVFSNFTA VPKRSPVGEF LLAGGRTKTW LVGNKLVTVT TSVGTGTRSL 
LGLDSGELQS GPESSSSPGV HVRQTKEAPA KLESQAGQQV SRGARDRVRS MSGGHGLRVG 
ALDVPASQFL GSATSPGPRT APAAKPEKAS AGTRVPVQEK TNLAAYVPLL TQGWAEILVR 
RPTGNTSWLM SLENPLSPFS SDINNMPLQE LSNALMAAER FKEHRDTALY KSLSVPAAST 
AKPPPLPRSN TVASFSSLYQ SSCQGQLHRS VSWADSAVVM EEGSPGEVPV LVEPPGLEDV 
EAALGMDRRT DAYSRSSSVS SQEEKSLHAE ELVGRGIPIE RVVSSEGGRP SVDLSFQPSQ 
PLSKSSSSPE LQTLQDILGD PGDKADVGRL SPEVKARSQS GTLDGESAAW SASGEDSRGQ 
PEGPLPSSSP RSPSGLRPRG YTISDSAPSR RGKRVERDAL KSRATASNAE KVPGINPSFV 
FLQLYHSPFF GDESNKPILL PNESQSFERS VQLLDQIPSY DTHKIAVLYV GEGQSNSELA 
ILSNEHGSYR YTEFLTGLGR LIELKDCQPD KVYLGGLDVC GEDGQFTYCW HDDIMQAVFH 
IATLMPTKDV DKHRCDKKRH LGNDFVSIVY NDSGEDFKLG TIKGQFNFVH VIVTPLDYEC 
NLVSLQCRKD MEGLVDTSVA KIVSDRNLPF VARQMALHAN MASQVHHSRS NPTDIYPSKW 
IARLRHIKRL RQRICEEAAY SNPSLPLVHP PSHSKAPAQT PAEPTPGYEV GQRKRLISSV 
EDFTEFV

Genular Protein ID: 573377230

Symbol: B3KWH7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B3KWH7

Database IDs:

ARBA 1 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 3 Gene3D 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 1 SUPFAM 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

Sequence Information:

  • Length: 588
  • Mass: 62879
  • Checksum: 8F664C11A2363CD0
  • Sequence:
    • MMARYVFSNF TAVPKGSPVG EFLLAGGRTK TWLVGNKLVT VTTSVGTGTR SLLGLDSGEL 
QSGPESSSSP GVHVRQTKEA PAKLESQAGQ QVSRGARDRV RSMSGGHGLR VGAPDVPASQ 
FLGSATSPGP RTAPAAKPEK ASAGTRVPVQ EKTNLAAYVP LLTQGWAEIL VRRPTGNTSW 
LMSLENPLSP FSSDINNMPL QELSNALMAA ERFKEHRDTA LYKSLSVPAA STAKPPPLPR 
SNTDSAVVME EGSPGEVPVL VEPPGLEDVE AALGMDRRTD AYSRSSSVSS QEEKSLHAEE 
LVGRGIPIER VVSSEGGRPS VDLSFQPSQP LSKSSSSPEL QTLQDILGDP GDKADVGRLS 
PEVKARSQSG TLDGESAAWS ASGEDSRGQP EGPLPSSSPR SPSGLRPRGY TISDSAPSRR 
GKRVERDALK SRATASNAEK VPGINPSFVF LQLYHSPFFG DESNKPILLP NESQSFERSV 
QLLDQIPSYD THKIAVLYVG EGQSNSELAI LSNEHGSYRY TEFLTGLGRL IELKDCQPDK 
VYLGGLDVCG EDGQFTYCWH DDIMQGRGQA PLRQEAPPGQ RLCVHCLQ

Genular Protein ID: 4236061677

Symbol: Q5HYF7_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q5HYF7

Database IDs:

Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 GeneTree 1 HGNC 1 HOGENOM 1 NCBI Taxonomy 1 OrthoDB 1 PeptideAtlas 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 108
  • Mass: 11799
  • Checksum: 6FF73BD3AC8767EF
  • Sequence:
    • MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 
IGQICEVAKT KKFEEDDLSA VRPDRVLCGH RGLPAGAGRR GLLQLPAG

Genular Protein ID: 2583053351

Symbol: H3BMQ0_HUMAN

Name: N/A

UniProtKB Accession Codes:

H3BMQ0

Database IDs:

ARBA 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 3 Proteomes 2 ProteomicsDB 2 RefSeq 1 SAM 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 1751
  • Mass: 194390
  • Checksum: C6DCA7B0DC5E3B59
  • Sequence:
    • MEGFSGASWS TMAKPTSKDS GLKEKFKILL GLGTPRPNPR SAEGKQTEFI ITAEILRELS 
MECGLNNRIR MIGQICEVAK TKKFEEHAVE ALWKAVADLL QPERPLEARH AVLALLKAIV 
QGQGERLGVL RALFFKVIKD YPSNEDLHER LEVFKALTDN GRHITYLEEE LADFVLQWMD 
VGLSSEFLLV LVNLVKFNSC YLDEYIARMV QMICLLCVRT ASSVDIEVSL QVLDAVVCYN 
CLPAESLPLF IVTLCRTINV KELCEPCWKL MRNLLGTHLG HSAIYNMCHL MEDRAYMEDA 
PLLRGAVFFV GMALWGAHRL YSLRNSPTSV LPSFYQAMAC PNEVVSYEIV LSITRLIKKY 
RKELQVVAWD ILLNIIERLL QQLQTLDSPE LRTIVHDLLT TVEELCDQNE FHGSQERYFE 
LVERCADQRP ESSLLNLISY RAQSIHPAKD GWIQNLQALM ERFFRSESRG AVRIKVLDVL 
SFVLLINRQF YEEELINSVV ISQLSHIPED KDHQVRKLAT QLLVDLAEGC HTHHFNSLLD 
IIEKVMARSL SPPPELEERD VAAYSASLED VKTAVLGLLV ILQTKLYTLP ASHATRVYEM 
LVSHIQLHYK HSYTLPIASS IRLQAFDFLL LLRADSLHRL GLPNKDGVVR FSPYCVCDYM 
EPERGSEKKT SGPLSPPTGP PGPAPAGPAV RLGSVPYSLL FRVLLQCLKQ ESDWKVLKLV 
LGRLPESLRY KVLIFTSPCS VDQLCSALCS MLSGPKTLER LRGAPEGFSR TDLHLAVVPV 
LTALISYHNY LDKTKQREMV YCLEQGLIHR CASQCVVALS ICSVEMPDII IKALPVLVVK 
LTHISATASM AVPLLEFLST LARLPHLYRN FAAEQYASVF AISLPYTNPS KFNQYIVCLA 
HHVIAMWFIR CRLPFRKDFV PFITKGLRSN VLLSFDDTPE KDSFRARSTS LNERPKRIQT 
SLTSASLGSA DENSVAQADD SLKNLHLELT ETCLDMMARY VFSNFTAVPK RSPVGEFLLA 
GGRTKTWLVG NKLVTVTTSV GTGTRSLLGL DSGELQSGPE SSSSPGVHVR QTKEAPAKLE 
SQAGQQVSRG ARDRVRSMSG GHGLRVGALD VPASQFLGSA TSPGPRTAPA AKPEKASAGT 
RVPVQEKTNL AAYVPLLTQG WAEILVRRPT GNTSWLMSLE NPLSPFSSDI NNMPLQELSN 
ALMAAERFKE HRDTALYKSL SVPAASTAKP PPLPRSNTDS AVVMEEGSPG EVPVLVEPPG 
LEDVEAALGM DRRTDAYSRS SSVSSQEEKS LHAEELVGRG IPIERVVSSE GGRPSVDLSF 
QPSQPLSKSS SSPELQTLQD ILGDPGDKAD VGRLSPEVKA RSQSGTLDGE SAAWSASGED 
SRGQPEGPLP SSSPRSPSGL RPRGYTISDS APSRRGKRVE RDALKSRATA SNAEKVPGIN 
PSFVFLQLYH SPFFGDESNK PILLPNESQS FERSVQLLDQ IPSYDTHKIA VLYVGEGQSN 
SELAILSNEH GSYRYTEFLT GLGRLIELKD CQPDKVYLGG LDVCGEDGQF TYCWHDDIMQ 
AVFHIATLMP TKDVDKHRCD KKRHLGNDFV SIVYNDSGED FKLGTIKGQF NFVHVIVTPL 
DYECNLVSLQ CRKDMEGLVD TSVAKIVSDR NLPFVARQMA LHANMASQVH HSRSNPTDIY 
PSKWIARLRH IKRLRQRICE EAAYSNPSLP LVHPPSHSKA PAQTPAEPTP GYEVGQRKRL 
ISSVEDFTEF V

Genular Protein ID: 985371408

Symbol: X5D7Q2_HUMAN

Name: N/A

UniProtKB Accession Codes:

X5D7Q2

Database IDs:

ARBA 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 6 Gene3D 2 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 2 PROSITE-ProRule 1 Pfam 3 RefSeq 1 SAM 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 24722188

Title: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

PubMed ID: 24722188

Sequence Information:

  • Length: 1740
  • Mass: 193249
  • Checksum: A0886EF0FBE7652E
  • Sequence:
    • MAKPTSKDSG LKEKFKILLG LGTPRPNPRS AEGKQTEFII TAEILRELSM ECGLNNRIRM 
IGQICEVAKT KKFEEHAVEA LWKAVADLLQ PERPLEARHA VLALLKAIVQ GQGERLGVLR 
ALFFKVIKDY PSNEDLHERL EVFKALTDNG RHITYLEEEL ADFVLQWMDV GLSSEFLLVL 
VNLVKFNSCY LDEYIARMVQ MICLLCVRTA SSVDIEVSLQ VLDAVVCYNC LPAESLPLFI 
VTLCRTINVK ELCEPCWKLM RNLLGTHLGH SAIYNMCHLM EDRAYMEDAP LLRGAVFFVG 
MALWGAHRLY SLRNSPTSVL PSFYQAMACP NEVVSYEIVL SITRLIKKYR KELQVVAWDI 
LLNIIERLLQ QLQTLDSPEL RTIVHDLLTT VEELCDQNEF HGSQERYFEL VERCADQRPE 
SSLLNLISYR AQSIHPAKDG WIQNLQALME RFFRSESRGA VRIKVLDVLS FVLLINRQFY 
EEELINSVVI SQLSHIPEDK DHQVRKLATQ LLVDLAEGCH THHFNSLLDI IEKVMARSLS 
PPPELEERDV AAYSASLEDV KTAVLGLLVI LQTKLYTLPA SHATRVYEML VSHIQLHYKH 
SYTLPIASSI RLQAFDFLLL LRADSLHRLG LPNKDGVVRF SPYCVCDYME PERGSEKKTS 
GPLSPPTGPP GPAPAGPAVR LGSVPYSLLF RVLLQCLKQE SDWKVLKLVL GRLPESLRYK 
VLIFTSPCSV DQLCSALCSM LSGPKTLERL RGAPEGFSRT DLHLAVVPVL TALISYHNYL 
DKTKQREMVY CLEQGLIHRC ASQCVVALSI CSVEMPDIII KALPVLVVKL THISATASMA 
VPLLEFLSTL ARLPHLYRNF AAEQYASVFA ISLPYTNPSK FNQYIVCLAH HVIAMWFIRC 
RLPFRKDFVP FITKGLRSNV LLSFDDTPEK DSFRARSTSL NERPKRIQTS LTSASLGSAD 
ENSVAQADDS LKNLHLELTE TCLDMMARYV FSNFTAVPKR SPVGEFLLAG GRTKTWLVGN 
KLVTVTTSVG TGTRSLLGLD SGELQSGPES SSSPGVHVRQ TKEAPAKLES QAGQQVSRGA 
RDRVRSMSGG HGLRVGALDV PASQFLGSAT SPGPRTAPAA KPEKASAGTR VPVQEKTNLA 
AYVPLLTQGW AEILVRRPTG NTSWLMSLEN PLSPFSSDIN NMPLQELSNA LMAAERFKEH 
RDTALYKSLS VPAASTAKPP PLPRSNTDSA VVMEEGSPGE VPVLVEPPGL EDVEAALGMD 
RRTDAYSRSS SVSSQEEKSL HAEELVGRGI PIERVVSSEG GRPSVDLSFQ PSQPLSKSSS 
SPELQTLQDI LGDPGDKADV GRLSPEVKAR SQSGTLDGES AAWSASGEDS RGQPEGPLPS 
SSPRSPSGLR PRGYTISDSA PSRRGKRVER DALKSRATAS NAEKVPGINP SFVFLQLYHS 
PFFGDESNKP ILLPNESQSF ERSVQLLDQI PSYDTHKIAV LYVGEGQSNS ELAILSNEHG 
SYRYTEFLTG LGRLIELKDC QPDKVYLGGL DVCGEDGQFT YCWHDDIMQA VFHIATLMPT 
KDVDKHRCDK KRHLGNDFVS IVYNDSGEDF KLGTIKGQFN FVHVIVTPLD YECNLVSLQC 
RKDMEGLVDT SVAKIVSDRN LPFVARQMAL HANMASQVHH SRSNPTDIYP SKWIARLRHI 
KRLRQRICEE AAYSNPSLPL VHPPSHSKAP AQTPAEPTPG YEVGQRKRLI SSVEDFTEFV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.