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| General information | Expression | Regulation | Mutation | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 7249 |
Name | TSC2 |
Synonym | LAM|TSC4;tuberous sclerosis 2;TSC2;tuberous sclerosis 2 |
Definition | tuberin|tuberous sclerosis 2 protein |
Position | 16p13.3 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,UniProt,Generif |
Literature support | Count: 32 PubMed records as below. |
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Evidence Status |
Description |
reviewed | The tumor suppressor tuberin regulates mitotic onset through the cellular localization of cyclin B1. |
reviewed | "Lymphangioleiomyomatosis is characterized by cystic lung destruction, resulting from proliferation of smooth-muscle-like cells, which have mutations in the tumor suppressor gene TSC2." |
reviewed | The NADPH oxidase subunit p22phox inhibits the function of the tumor suppressor protein tuberin. |
reviewed | "Inhibition of mTORC1, pathologically activated by loss of the TSC1/TSC2 tumor suppressor complex, by sirolimus is a rational mechanistic target for therapy in PEComas." |
reviewed | WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase. |
reviewed | This is the first description of a functional interaction between the tumor suppressor tuberin and the oncogene Ras in regulating apoptosis. |
reviewed | p27 localization during the mammalian cell cycle is under the control of the tumor suppressor tuberin. |
reviewed | "According to Knudson's two-hit model of tumorigenesis, second-hit mutation and resulting loss of heterozygosity of a tumor suppressor gene (tsc1 and tsc2) is necessary for tumor formation". |
reviewed | Abnormal growth of smooth muscle-like cells in lymphangioleiomyomatosis: Role for tumor suppressor TSC2. |
reviewed | Modulation of cell migration and invasiveness by tumor suppressor TSC2 in lymphangioleiomyomatosis. |
| More detail of all 32 literatures about TSC2 | |
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Pathways and Diseases |
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Pathway | AKT phosphorylates targets in the cytosol;PID Reactome;500640 |
Pathway | p38 signaling mediated by MAPKAP kinases;PID Curated;200135 |
Pathway | Insulin signaling pathway;KEGG PATHWAY;hsa04910 |
Pathway | Signalling by NGF;Reactome;REACT:11061 |
Pathway | LKB1 signaling events;PID Curated;200061 |
Pathway | Signaling by Insulin receptor;Reactome;REACT:498 |
Pathway | p53 signaling pathway;KEGG PATHWAY;hsa04115 |
Pathway | Regulation of Rheb GTPase activity by AMPK;PID Reactome;500503 |
Pathway | p53 pathway by glucose deprivation;PANTHER;P04397 |
Pathway | Direct p53 effectors;PID Curated;200101 |
Pathway | Insulin/IGF pathway-protein kinase B signaling cascade;PANTHER;P00033 |
Pathway | control of gene expression by vitamin d receptor;PID BioCarta;100007 |
Pathway | mTOR signaling pathway;KEGG PATHWAY;hsa04150 |
Pathway | Validated targets of C-MYC transcriptional repression;PID Curated;200171 |
Pathway | Inhibition of TSC complex formation by PKB;PID Reactome;500906 |
Pathway | mTOR signaling pathway;PID Curated;200080 |
Disease | Neoplasm metastasis;FunDO |
Disease | Autistic disorder;FunDO |
Disease | Squamous cell cancer;FunDO |
Disease | Bone disease;FunDO |
Disease | Tuberous sclerosis-2;OMIM |
Disease | Lymphangioleiomyomatosis, somatic;OMIM |
Disease | gangliogliomas;GAD |
Disease | CANCER;GAD |
Disease | Polycystic kidney;FunDO |
Disease | Endometrial cancer;FunDO |
Disease | Pancreas cancer;FunDO |
Disease | Tuberous sclerosis;FunDO |
Disease | Infantile spasms;FunDO |
Disease | PEComa;FunDO |
Disease | Brain tumor;FunDO |
Disease | Breast cancer;FunDO |
Disease | Intestinal disease;FunDO |
Disease | Alzheimer's disease;FunDO |
Disease | Parkinson disease;FunDO |
Disease | Angiomyolipoma;FunDO |
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External Links |
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Links to Entrez Gene | 7249 |
Links to all GeneRIF Items | 7249 |
Links to iHOP | 7249 |
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Sequence Information |
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Nucleotide Sequence |
>7249 : length: 5424 atggccaaaccaacaagcaaagattcaggcttgaaggagaagtttaagattctgttggga ctgggaacaccgaggccaaatcccaggtctgcagagggtaaacagacggagtttatcatc accgcggaaatactgagagaactgagcatggaatgtggcctcaacaatcgcatccggatg atagggcagatttgtgaagtcgcaaaaaccaagaaatttgaagagcacgcagtggaagca ctctggaaggcggtcgcggatctgttgcagccggagcggccgctggaggcccggcacgcg gtgctggctctgctgaaggccatcgtgcaggggcagggcgagcgtttgggggtcctcaga gccctcttctttaaggtcatcaaggattacccttccaacgaagaccttcacgaaaggctg gaggttttcaaggccctcacagacaatgggagacacatcacctacttggaggaagagctg gctgactttgtcctgcagtggatggatgttggcttgtcctcggaattccttctggtgctg gtgaacttggtcaaattcaatagctgttacctcgacgagtacatcgcaaggatggttcag atgatctgtctgctgtgcgtccggaccgcgtcctctgtggacatagaggtctccctgcag gtgctggacgccgtggtctgctacaactgcctgccggctgagagcctcccgctgttcatc gttaccctctgtcgcaccatcaacgtcaaggagctctgcgagccttgctggaagctgatg cggaacctccttggcacccacctgggccacagcgccatctacaacatgtgccacctcatg gaggacagagcctacatggaggacgcgcccctgctgagaggagccgtgttttttgtgggc atggctctctggggagcccaccggctctattctctcaggaactcgccgacatctgtgttg ccatcattttaccaggccatggcatgtccgaacgaggtggtgtcctatgagatcgtcctg tccatcaccaggctcatcaagaagtataggaaggagctccaggtggtggcgtgggacatt ctgctgaacatcatcgaacggctccttcagcagctccagaccttggacagcccggagctc aggaccatcgtccatgacctgttgaccacggtggaggagctgtgtgaccagaacgagttc cacgggtctcaggagagatactttgaactggtggagagatgtgcggaccagaggcctgag tcctccctcctgaacctgatctcctatagagcgcagtccatccacccggccaaggacggc tggattcagaacctgcaggcgctgatggagagattcttcaggagcgagtcccgaggcgcc gtgcgcatcaaggtgctggacgtgctgtcctttgtgctgctcatcaacaggcagttctat gaggaggagctgattaactcagtggtcatctcgcagctctcccacatccccgaggataaa gaccaccaggtccgaaagctggccacccagttgctggtggacctggcagagggctgccac acacaccacttcaacagcctgctggacatcatcgagaaggtgatggcccgctccctctcc ccacccccggagctggaagaaagggatgtggccgcatactcggcctccttggaggatgtg aagacagccgtcctggggcttctggtcatccttcagaccaagctgtacaccctgcctgca agccacgccacgcgtgtgtatgagatgctggtcagccacattcagctccactacaagcac agctacaccctgccaatcgcgagcagcatccggctgcaggcctttgacttcctgttgctg ctgcgggccgactcactgcaccgcctgggcctgcccaacaaggatggagtcgtgcggttc agcccctactgcgtctgcgactacatggagccagagagaggctctgagaagaagaccagc ggccccctttctcctcccacagggcctcctggcccggcgcctgcaggccccgccgtgcgg ctggggtccgtgccctactccctgctcttccgcgtcctgctgcagtgcttgaagcaggag tctgactggaaggtgctgaagctggttctgggcaggctgcctgagtccctgcgctataaa gtgctcatctttacttccccttgcagtgtggaccagctgtgctctgctctctgctccatg ctttcaggcccaaagacactggagcggctccgaggcgccccagaaggcttctccagaact gacttgcacctggccgtggttccagtgctgacagcattaatctcttaccataactacctg gacaaaaccaaacagcgcgagatggtctactgcctggagcagggcctcatccaccgctgt gccagccagtgcgtcgtggccttgtccatctgcagcgtggagatgcctgacatcatcatc aaggcgctgcctgttctggtggtgaagctcacgcacatctcagccacagccagcatggcc gtcccactgctggagttcctgtccactctggccaggctgccgcacctctacaggaacttt gccgcggagcagtatgccagtgtgttcgccatctccctgccgtacaccaacccctccaag tttaatcagtacatcgtgtgtctggcccatcacgtcatagccatgtggttcatcaggtgc cgcctgcccttccggaaggattttgtccctttcatcactaagggcctgcggtccaatgtc ctcttgtcttttgatgacacccccgagaaggacagcttcagggcccggagtactagtctc aacgagagacccaagagtctgaggatagccagaccccccaaacaaggcttgaataactct ccacccgtgaaagaattcaaggagagctctgcagccgaggccttccggtgccgcagcatc agtgtgtctgaacatgtggtccgcagcaggatacagacgtccctcaccagtgccagcttg gggtctgcagatgagaactccgtggcccaggctgacgatagcctgaaaaacctccacctg gagctcacggaaacctgtctggacatgatggctcgatacgtcttctccaacttcacggct gtcccgaagaggtctcctgtgggcgagttcctcctagcgggtggcaggaccaaaacctgg ctggttgggaacaagcttgtcactgtgacgacaagcgtgggaaccgggacccggtcgtta ctaggcctggactcgggggagctgcagtccggcccggagtcgagctccagccccggggtg catgtgagacagaccaaggaggcgccggccaagctggagtcccaggctgggcagcaggtg tcccgtggggcccgggatcgggtccgttccatgtcggggggccatggtcttcgagttggc gccctggacgtgccggcctcccagttcctgggcagtgccacttctccaggaccacggact gcaccagccgcgaaacctgagaaggcctcagctggcacccgggttcctgtgcaggagaag acgaacctggcggcctatgtgcccctgctgacccagggctgggcggagatcctggtccgg aggcccacagggaacaccagctggctgatgagcctggagaacccgctcagccctttctcc tcggacatcaacaacatgcccctgcaggagctgtctaacgccctcatggcggctgagcgc ttcaaggagcaccgggacacagccctgtacaagtcactgtcggtgccggcagccagcacg gccaaaccccctcctctgcctcgctccaacacagtggcctctttctcctccctgtaccag tccagctgccaaggacagctgcacaggagcgtttcctgggcagactccgccgtggtcatg gaggagggaagtccgggcgaggttcctgtgctggtggagcccccagggttggaggacgtt gaggcagcgctaggcatggacaggcgcacggatgcctacagcaggtcgtcctcagtctcc agccaggaggagaagtcgctccacgcggaggagctggttggcaggggcatccccatcgag cgagtcgtctcctcggagggtggccggccctctgtggacctctccttccagccctcgcag cccctgagcaagtccagctcctctcccgagctgcagactctgcaggacatcctcggggac cctggggacaaggccgacgtgggccggctgagccctgaggttaaggcccggtcacagtca gggaccctggacggggaaagtgctgcctggtcggcctcgggcgaagacagtcggggccag cccgagggtcccttgccttccagctccccccgctcgcccagtggcctccggccccgaggt tacaccatctccgactcggccccatcacgcaggggcaagagagtagagagggacgcctta aagagcagagccacagcctccaatgcagagaaagtgccaggcatcaaccccagtttcgtg ttcctgcagctctaccattcccccttctttggcgacgagtcaaacaagccaatcctgctg cccaatgagtcacagtcctttgagcggtcggtgcagctcctcgaccagatcccatcatac gacacccacaagatcgccgtcctgtatgttggagaaggccagagcaacagcgagctcgcc atcctgtccaatgagcatggctcctacaggtacacggagttcctgacgggcctgggccgg ctcatcgagctgaaggactgccagccggacaaggtgtacctgggaggcctggacgtgtgt ggtgaggacggccagttcacctactgctggcacgatgacatcatgcaagccgtcttccac atcgccaccctgatgcccaccaaggacgtggacaagcaccgctgcgacaagaagcgccac ctgggcaacgactttgtgtccattgtctacaatgactccggtgaggacttcaagcttggc accatcaagggccagttcaactttgtccacgtgatcgtcaccccgctggactacgagtgc aacctggtgtccctgcagtgcaggaaagacatggagggccttgtggacaccagcgtggcc aagatcgtgtctgaccgcaacctgcccttcgtggcccgccagatggccctgcacgcaaat atggcctcacaggtgcatcatagccgctccaaccccaccgatatctacccctccaagtgg attgcccggctccgccacatcaagcggctccgccagcggatctgcgaggaagccgcctac tccaaccccagcctacctctggtgcaccctccgtcccatagcaaagcccctgcacagact ccagccgagcccacacctggctatgaggtgggccagcggaagcgcctcatctcctcggtg gaggacttcaccgagtttgtgtga |
Protein Sequence |
>7249 : length: 1807 MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRM IGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLR ALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVL VNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFI VTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVG MALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDI LLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPE SSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFY EEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLS PPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKH SYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTS GPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYK VLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYL DKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMA VPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRC RLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNS PPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHL ELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSL LGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVG ALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVR RPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAAST AKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWADSAVVMEEGSPGEVPVLVEPPGLEDV EAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQ PLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGTLDGESAAWSASGEDSRGQ PEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFV FLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDTHKIAVLYVGEGQSNSELA ILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFH IATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTIKGQFNFVHVIVTPLDYEC NLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKW IARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPAEPTPGYEVGQRKRLISSV EDFTEFV |