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

Gene name
TSC2, LAM, TSC4
Definition
tuberous sclerosis 2
Orthology
K07207  
tuberous sclerosis 2
Organism
hsa  Homo sapiens (human)
Pathway
p53 signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Insulin signaling pathway
Thyroid hormone signaling pathway
Disease
H00896  
Lymphangioleiomyomatosis (LAM)
H00915  
Tuberous sclerosis complex (TSC)
Class
Environmental Information Processing; Signal transduction; PI3K-Akt signaling pathway [PATH:hsa04151]
Environmental Information Processing; Signal transduction; mTOR signaling pathway [PATH:hsa04150]
Cellular Processes; Cell growth and death; p53 signaling pathway [PATH:hsa04115]
Organismal Systems; Endocrine system; Insulin signaling pathway [PATH:hsa04910]
Organismal Systems; Endocrine system; Thyroid hormone signaling pathway [PATH:hsa04919]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
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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