KEGG T01001: 7249

Homo sapiens (human): 7249

Entry

7249 CDS T01001

Gene name

TSC2, LAM, TSC4

Definition

tuberous sclerosis 2

Orthology

K07207

tuberous sclerosis 2

Organism

hsa Homo sapiens (human)

Pathway

hsa04115	p53 signaling pathway
hsa04150	mTOR signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04910	Insulin 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]

SSDB

Motif

Pfam:

Tuberin DUF3384 Rap_GAP NDUF_B7

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

16p13.3

AA seq 1807 aa
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 +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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (21)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (13)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   RefSeq(pep) (3)   
DNA sequence (39)   
   RefSeq(nuc) (5)   
   GenBank (17)   
   EMBL (17)   
Protein domain (4)   
   Pfam (4)   
All databases (80)   

Download RDF

DBGET integrated database retrieval system