KEGG   Homo sapiens (human): 7249Help
Entry
7249              CDS       T01001                                 

Gene name
TSC2, LAM, PPP1R160, TSC4
Definition
(RefSeq) TSC complex subunit 2
  KO
K07207  tuberous sclerosis 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04072  Phospholipase D signaling pathway
hsa04115  p53 signaling pathway
hsa04140  Autophagy - animal
hsa04150  mTOR signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04152  AMPK signaling pathway
hsa04211  Longevity regulating pathway
hsa04218  Cellular senescence
hsa04714  Thermogenesis
hsa04910  Insulin signaling pathway
hsa04919  Thyroid hormone signaling pathway
hsa05163  Human cytomegalovirus infection
hsa05165  Human papillomavirus infection
hsa05231  Choline metabolism in cancer
Disease
H00896  Lymphangioleiomyomatosis
H00915  Tuberous sclerosis complex
H01691  Renal angiomyolipoma
H01692  Subependymal giant cell astrocytoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04072 Phospholipase D signaling pathway
    7249 (TSC2)
   04151 PI3K-Akt signaling pathway
    7249 (TSC2)
   04152 AMPK signaling pathway
    7249 (TSC2)
   04150 mTOR signaling pathway
    7249 (TSC2)
 09140 Cellular Processes
  09141 Transport and catabolism
   04140 Autophagy - animal
    7249 (TSC2)
  09143 Cell growth and death
   04115 p53 signaling pathway
    7249 (TSC2)
   04218 Cellular senescence
    7249 (TSC2)
 09150 Organismal Systems
  09152 Endocrine system
   04910 Insulin signaling pathway
    7249 (TSC2)
   04919 Thyroid hormone signaling pathway
    7249 (TSC2)
  09149 Aging
   04211 Longevity regulating pathway
    7249 (TSC2)
  09159 Environmental adaptation
   04714 Thermogenesis
    7249 (TSC2)
 09160 Human Diseases
  09161 Cancers: Overview
   05231 Choline metabolism in cancer
    7249 (TSC2)
  09172 Infectious diseases: Viral
   05163 Human cytomegalovirus infection
    7249 (TSC2)
   05165 Human papillomavirus infection
    7249 (TSC2)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01009 Protein phosphatases and associated proteins [BR:hsa01009]
    7249 (TSC2)
Protein phosphatases and associated proteins [BR:hsa01009]
 Protein Ser/ Thr phosphatases
  Phosphoprotein phosphatases (PPPs)
   Protein phosphatase-1
    PP1-interacting proteins (PIPs)
     7249 (TSC2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Tuberin DUF3384 Rap_GAP Cnd1
Motif
Other DBs
NCBI-GeneID: 7249
NCBI-ProteinID: NP_000539
OMIM: 191092
HGNC: 12363
Ensembl: ENSG00000103197
Vega: OTTHUMG00000128745
Pharos: P49815(Tbio)
UniProt: P49815
Position
16p13.3
AA seq 1807 aa AA seqDB search
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
NT seq 5424 nt NT seq  +upstreamnt  +downstreamnt
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

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