| Gene ID | 7249 |
| Symbol | TSC2 |
| Synonymous | LAM|PPP1R160|TSC4 |
| Full name | tuberous sclerosis 2 |
| Gene description | protein phosphatase 1, regulatory subunit 160|tuberin|tuberous sclerosis 2 protein |
| Cytoband | 16p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:191092; HGNC:HGNC:12363; Ensembl:ENSG00000103197; HPRD:01850; Vega:OTTHUMG00000128745 |
Pathways and Diseases | Detail |
|---|---|
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 |
Sequence Information | |
|---|---|
Nucleotide Sequence | >7249 : length: 5675 CCGGCGGCGTCCCGGGGCCAGGGGGGTGCGCCTTTCTCCGCGTCGGGGCGGCCCGGAGCGCGGTGGCGCGGCGCGGGAGGGGTTTTCTGGTGCGTCCTGGTCCACCATGGCCAAACCAAC AAGCAAAGATTCAGGCTTGAAGGAGAAGTTTAAGATTCTGTTGGGACTGGGAACACCGAGGCCAAATCCCAGGTCTGCAGAGGGTAAACAGACGGAGTTTATCATCACCGCGGAAATACT GAGAGAACTGAGCATGGAATGTGGCCTCAACAATCGCATCCGGATGATAGGGCAGATTTGTGAAGTCGCAAAAACCAAGAAATTTGAAGAGCACGCAGTGGAAGCACTCTGGAAGGCGGT CGCGGATCTGTTGCAGCCGGAGCGGCCGCTGGAGGCCCGGCACGCGGTGCTGGCTCTGCTGAAGGCCATCGTGCAGGGGCAGGGCGAGCGTTTGGGGGTCCTCAGAGCCCTCTTCTTTAA GGTCATCAAGGATTACCCTTCCAACGAAGACCTTCACGAAAGGCTGGAGGTTTTCAAGGCCCTCACAGACAATGGGAGACACATCACCTACTTGGAGGAAGAGCTGGCTGACTTTGTCCT GCAGTGGATGGATGTTGGCTTGTCCTCGGAATTCCTTCTGGTGCTGGTGAACTTGGTCAAATTCAATAGCTGTTACCTCGACGAGTACATCGCAAGGATGGTTCAGATGATCTGTCTGCT GTGCGTCCGGACCGCGTCCTCTGTGGACATAGAGGTCTCCCTGCAGGTGCTGGACGCCGTGGTCTGCTACAACTGCCTGCCGGCTGAGAGCCTCCCGCTGTTCATCGTTACCCTCTGTCG CACCATCAACGTCAAGGAGCTCTGCGAGCCTTGCTGGAAGCTGATGCGGAACCTCCTTGGCACCCACCTGGGCCACAGCGCCATCTACAACATGTGCCACCTCATGGAGGACAGAGCCTA CATGGAGGACGCGCCCCTGCTGAGAGGAGCCGTGTTTTTTGTGGGCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGGAACTCGCCGACATCTGTGTTGCCATCATTTTACCA GGCCATGGCATGTCCGAACGAGGTGGTGTCCTATGAGATCGTCCTGTCCATCACCAGGCTCATCAAGAAGTATAGGAAGGAGCTCCAGGTGGTGGCGTGGGACATTCTGCTGAACATCAT CGAACGGCTCCTTCAGCAGCTCCAGACCTTGGACAGCCCGGAGCTCAGGACCATCGTCCATGACCTGTTGACCACGGTGGAGGAGCTGTGTGACCAGAACGAGTTCCACGGGTCTCAGGA GAGATACTTTGAACTGGTGGAGAGATGTGCGGACCAGAGGCCTGAGTCCTCCCTCCTGAACCTGATCTCCTATAGAGCGCAGTCCATCCACCCGGCCAAGGACGGCTGGATTCAGAACCT GCAGGCGCTGATGGAGAGATTCTTCAGGAGCGAGTCCCGAGGCGCCGTGCGCATCAAGGTGCTGGACGTGCTGTCCTTTGTGCTGCTCATCAACAGGCAGTTCTATGAGGAGGAGCTGAT TAACTCAGTGGTCATCTCGCAGCTCTCCCACATCCCCGAGGATAAAGACCACCAGGTCCGAAAGCTGGCCACCCAGTTGCTGGTGGACCTGGCAGAGGGCTGCCACACACACCACTTCAA CAGCCTGCTGGACATCATCGAGAAGGTGATGGCCCGCTCCCTCTCCCCACCCCCGGAGCTGGAAGAAAGGGATGTGGCCGCATACTCGGCCTCCTTGGAGGATGTGAAGACAGCCGTCCT GGGGCTTCTGGTCATCCTTCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCC AATCGCGAGCAGCATCCGGCTGCAGGCCTTTGACTTCCTGTTGCTGCTGCGGGCCGACTCACTGCACCGCCTGGGCCTGCCCAACAAGGATGGAGTCGTGCGGTTCAGCCCCTACTGCGT CTGCGACTACATGGAGCCAGAGAGAGGCTCTGAGAAGAAGACCAGCGGCCCCCTTTCTCCTCCCACAGGGCCTCCTGGCCCGGCGCCTGCAGGCCCCGCCGTGCGGCTGGGGTCCGTGCC CTACTCCCTGCTCTTCCGCGTCCTGCTGCAGTGCTTGAAGCAGGAGTCTGACTGGAAGGTGCTGAAGCTGGTTCTGGGCAGGCTGCCTGAGTCCCTGCGCTATAAAGTGCTCATCTTTAC TTCCCCTTGCAGTGTGGACCAGCTGTGCTCTGCTCTCTGCTCCATGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGCGCCCCAGAAGGCTTCTCCAGAACTGACTTGCACCTGGC CGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCATAACTACCTGGACAAAACCAAACAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGT CGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGA GTTCCTGTCCACTCTGGCCAGGCTGCCGCACCTCTACAGGAACTTTGCCGCGGAGCAGTATGCCAGTGTGTTCGCCATCTCCCTGCCGTACACCAACCCCTCCAAGTTTAATCAGTACAT CGTGTGTCTGGCCCATCACGTCATAGCCATGTGGTTCATCAGGTGCCGCCTGCCCTTCCGGAAGGATTTTGTCCCTTTCATCACTAAGGGCCTGCGGTCCAATGTCCTCTTGTCTTTTGA TGACACCCCCGAGAAGGACAGCTTCAGGGCCCGGAGTACTAGTCTCAACGAGAGACCCAAGAGTCTGAGGATAGCCAGACCCCCCAAACAAGGCTTGAATAACTCTCCACCCGTGAAAGA ATTCAAGGAGAGCTCTGCAGCCGAGGCCTTCCGGTGCCGCAGCATCAGTGTGTCTGAACATGTGGTCCGCAGCAGGATACAGACGTCCCTCACCAGTGCCAGCTTGGGGTCTGCAGATGA GAACTCCGTGGCCCAGGCTGACGATAGCCTGAAAAACCTCCACCTGGAGCTCACGGAAACCTGTCTGGACATGATGGCTCGATACGTCTTCTCCAACTTCACGGCTGTCCCGAAGAGGTC TCCTGTGGGCGAGTTCCTCCTAGCGGGTGGCAGGACCAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGACAAGCGTGGGAACCGGGACCCGGTCGTTACTAGGCCTGGACTC GGGGGAGCTGCAGTCCGGCCCGGAGTCGAGCTCCAGCCCCGGGGTGCATGTGAGACAGACCAAGGAGGCGCCGGCCAAGCTGGAGTCCCAGGCTGGGCAGCAGGTGTCCCGTGGGGCCCG GGATCGGGTCCGTTCCATGTCGGGGGGCCATGGTCTTCGAGTTGGCGCCCTGGACGTGCCGGCCTCCCAGTTCCTGGGCAGTGCCACTTCTCCAGGACCACGGACTGCACCAGCCGCGAA ACCTGAGAAGGCCTCAGCTGGCACCCGGGTTCCTGTGCAGGAGAAGACGAACCTGGCGGCCTATGTGCCCCTGCTGACCCAGGGCTGGGCGGAGATCCTGGTCCGGAGGCCCACAGGGAA CACCAGCTGGCTGATGAGCCTGGAGAACCCGCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGCAGGAGCTGTCTAACGCCCTCATGGCGGCTGAGCGCTTCAAGGAGCACCG GGACACAGCCCTGTACAAGTCACTGTCGGTGCCGGCAGCCAGCACGGCCAAACCCCCTCCTCTGCCTCGCTCCAACACAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGG ACAGCTGCACAGGAGCGTTTCCTGGGCAGACTCCGCCGTGGTCATGGAGGAGGGAAGTCCGGGCGAGGTTCCTGTGCTGGTGGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGG CATGGACAGGCGCACGGATGCCTACAGCAGGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTC GGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGC CGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGGGTCCCTT GCCTTCCAGCTCCCCCCGCTCGCCCAGTGGCCTCCGGCCCCGAGGTTACACCATCTCCGACTCGGCCCCATCACGCAGGGGCAAGAGAGTAGAGAGGGACGCCTTAAAGAGCAGAGCCAC AGCCTCCAATGCAGAGAAAGTGCCAGGCATCAACCCCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGTCACA GTCCTTTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATACGACACCCACAAGATCGCCGTCCTGTATGTTGGAGAAGGCCAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGA GCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCA GTTCACCTACTGCTGGCACGATGACATCATGCAAGCCGTCTTCCACATCGCCACCCTGATGCCCACCAAGGACGTGGACAAGCACCGCTGCGACAAGAAGCGCCACCTGGGCAACGACTT TGTGTCCATTGTCTACAATGACTCCGGTGAGGACTTCAAGCTTGGCACCATCAAGGGCCAGTTCAACTTTGTCCACGTGATCGTCACCCCGCTGGACTACGAGTGCAACCTGGTGTCCCT GCAGTGCAGGAAAGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGCCCGCCAGATGGCCCTGCACGCAAATATGGCCTCACAGGT GCATCATAGCCGCTCCAACCCCACCGATATCTACCCCTCCAAGTGGATTGCCCGGCTCCGCCACATCAAGCGGCTCCGCCAGCGGATCTGCGAGGAAGCCGCCTACTCCAACCCCAGCCT ACCTCTGGTGCACCCTCCGTCCCATAGCAAAGCCCCTGCACAGACTCCAGCCGAGCCCACACCTGGCTATGAGGTGGGCCAGCGGAAGCGCCTCATCTCCTCGGTGGAGGACTTCACCGA GTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAAATAAAGTCCTGACCCCAGTGCACAGACATAGAGGCACAGATTGCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Protein Sequence | >7249 : length: 1825 MAKPTSKDSGLKEKFKILLGLGTPRPNPRSAEGKQTEFIITAEILRELSMECGLNNRIRMIGQICEVAKTKKFEEHAVEALWKAVADLLQPERPLEARHAVLALLKAIVQGQGERLGVLR ALFFKVIKDYPSNEDLHERLEVFKALTDNGRHITYLEEELADFVLQWMDVGLSSEFLLVLVNLVKFNSCYLDEYIARMVQMICLLCVRTASSVDIEVSLQVLDAVVCYNCLPAESLPLFI VTLCRTINVKELCEPCWKLMRNLLGTHLGHSAIYNMCHLMEDRAYMEDAPLLRGAVFFVGMALWGAHRLYSLRNSPTSVLPSFYQAMACPNEVVSYEIVLSITRLIKKYRKELQVVAWDI LLNIIERLLQQLQTLDSPELRTIVHDLLTTVEELCDQNEFHGSQERYFELVERCADQRPESSLLNLISYRAQSIHPAKDGWIQNLQALMERFFRSESRGAVRIKVLDVLSFVLLINRQFY EEELINSVVISQLSHIPEDKDHQVRKLATQLLVDLAEGCHTHHFNSLLDIIEKVMARSLSPPPELEERDVAAYSASLEDVKTAVLGLLVILQTKLYTLPASHATRVYEMLVSHIQLHYKH SYTLPIASSIRLQAFDFLLLLRADSLHRLGLPNKDGVVRFSPYCVCDYMEPERGSEKKTSGPLSPPTGPPGPAPAGPAVRLGSVPYSLLFRVLLQCLKQESDWKVLKLVLGRLPESLRYK VLIFTSPCSVDQLCSALCSMLSGPKTLERLRGAPEGFSRTDLHLAVVPVLTALISYHNYLDKTKQREMVYCLEQGLIHRCASQCVVALSICSVEMPDIIIKALPVLVVKLTHISATASMA VPLLEFLSTLARLPHLYRNFAAEQYASVFAISLPYTNPSKFNQYIVCLAHHVIAMWFIRCRLPFRKDFVPFITKGLRSNVLLSFDDTPEKDSFRARSTSLNERPKSLRIARPPKQGLNNS PPVKEFKESSAAEAFRCRSISVSEHVVRSRIQTSLTSASLGSADENSVAQADDSLKNLHLELTETCLDMMARYVFSNFTAVPKRSPVGEFLLAGGRTKTWLVGNKLVTVTTSVGTGTRSL LGLDSGELQSGPESSSSPGVHVRQTKEAPAKLESQAGQQVSRGARDRVRSMSGGHGLRVGALDVPASQFLGSATSPGPRTAPAAKPEKASAGTRVPVQEKTNLAAYVPLLTQGWAEILVR RPTGNTSWLMSLENPLSPFSSDINNMPLQELSNALMAAERFKEHRDTALYKSLSVPAASTAKPPPLPRSNTVASFSSLYQSSCQGQLHRSVSWAGIASQREAVGCRAPLCLIDSAVVMEE GSPGEVPVLVEPPGLEDVEAALGMDRRTDAYSRSSSVSSQEEKSLHAEELVGRGIPIERVVSSEGGRPSVDLSFQPSQPLSKSSSSPELQTLQDILGDPGDKADVGRLSPEVKARSQSGT LDGESAAWSASGEDSRGQPEGPLPSSSPRSPSGLRPRGYTISDSAPSRRGKRVERDALKSRATASNAEKVPGINPSFVFLQLYHSPFFGDESNKPILLPNESQSFERSVQLLDQIPSYDT HKIAVLYVGEGQSNSELAILSNEHGSYRYTEFLTGLGRLIELKDCQPDKVYLGGLDVCGEDGQFTYCWHDDIMQAVFHIATLMPTKDVDKHRCDKKRHLGNDFVSIVYNDSGEDFKLGTI KGQFNFVHVIVTPLDYECNLVSLQCRKDMEGLVDTSVAKIVSDRNLPFVARQMALHANMASQVHHSRSNPTDIYPSKWIARLRHIKRLRQRICEEAAYSNPSLPLVHPPSHSKAPAQTPA EPTPGYEVGQRKRLISSVEDFTEFV |