Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7249

Name

TSC2

Synonym

LAM|PPP1R160|TSC4;tuberous sclerosis 2;TSC2;tuberous sclerosis 2

Definition

protein phosphatase 1, regulatory subunit 160|tuberin|tuberous sclerosis 2 protein

Position

16p13.3

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

549

TUSON P-value

0.012525651

Pathways and Diseases

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

External Links

Links to Entrez Gene

7249

Links to all GeneRIF Items

7249

Links to iHOP

7249

Sequence Information

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

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



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