KEGG   VARIANT: 7048v2
Entry
7048v2                      Variant                                
Name
TGFBR2 reduced expression
Gene
TGFBR2  transforming growth factor beta receptor 2 [KO:K04388]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
reduced expression
Network
nt06218  TGFB signaling (cancer)
nt06263  Hepatocellular carcinoma
Disease
H00048  Hepatocellular carcinoma
Reference
PMID:9815784
  Authors
Kiss A, Wang NJ, Xie JP, Thorgeirsson SS
  Title
Analysis of transforming growth factor (TGF)-alpha/epidermal growth factor receptor, hepatocyte growth Factor/c-met,TGF-beta receptor type II, and p53 expression in human hepatocellular carcinomas.
  Journal
Clin Cancer Res 3:1059-66 (1997)
Reference
PMID:20531292
  Authors
Mamiya T, Yamazaki K, Masugi Y, Mori T, Effendi K, Du W, Hibi T, Tanabe M, Ueda M, Takayama T, Sakamoto M
  Title
Reduced transforming growth factor-beta receptor II expression in hepatocellular carcinoma correlates with intrahepatic metastasis.
  Journal
Lab Invest 90:1339-45 (2010)
DOI:10.1038/labinvest.2010.105
LinkDB

KEGG   Homo sapiens (human): 7046
Entry
7046              CDS       T01001                                 
Symbol
TGFBR1, AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TBR-i, TBRI, TGFR-1, tbetaR-I
Name
(RefSeq) transforming growth factor beta receptor 1
  KO
K04674  TGF-beta receptor type-1 [EC:2.7.11.30]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04068  FoxO signaling pathway
hsa04144  Endocytosis
hsa04218  Cellular senescence
hsa04350  TGF-beta signaling pathway
hsa04371  Apelin signaling pathway
hsa04380  Osteoclast differentiation
hsa04390  Hippo signaling pathway
hsa04520  Adherens junction
hsa04659  Th17 cell differentiation
hsa04926  Relaxin signaling pathway
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05142  Chagas disease
hsa05161  Hepatitis B
hsa05166  Human T-cell leukemia virus 1 infection
hsa05200  Pathways in cancer
hsa05210  Colorectal cancer
hsa05212  Pancreatic cancer
hsa05220  Chronic myeloid leukemia
hsa05225  Hepatocellular carcinoma
hsa05226  Gastric cancer
hsa05415  Diabetic cardiomyopathy
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06162  Hepatitis B virus (HBV)
nt06218  TGFB signaling (cancer)
nt06260  Colorectal cancer
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
nt06276  Chronic myeloid leukemia
nt06507  TGFB signaling
  Element
N00063  TGF-beta signaling pathway
N00064  Mutation-inactivated TGFBR2 to TGF-beta signaling pathway
N00065  Mutation-inactivated SMAD2 to TGF-beta signaling pathway
N00241  TGFBR2-reduced expression to TGF-beta signaling pathway
N00256  TGFBR1-reduced expression to TGF-beta signaling pathway
N00531  HBV HBx to TGF-beta signaling pathway
N01457  Myostatin signaling pathway
Disease
H00018  Gastric cancer
H00800  Loeys-Dietz syndrome
H00801  Familial thoracic aortic aneurysm and dissection
Drug target
Galunisertib: D10437
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    7046 (TGFBR1)
   04350 TGF-beta signaling pathway
    7046 (TGFBR1)
   04390 Hippo signaling pathway
    7046 (TGFBR1)
   04371 Apelin signaling pathway
    7046 (TGFBR1)
   04068 FoxO signaling pathway
    7046 (TGFBR1)
  09133 Signaling molecules and interaction
   04060 Cytokine-cytokine receptor interaction
    7046 (TGFBR1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    7046 (TGFBR1)
  09143 Cell growth and death
   04218 Cellular senescence
    7046 (TGFBR1)
  09144 Cellular community - eukaryotes
   04520 Adherens junction
    7046 (TGFBR1)
 09150 Organismal Systems
  09151 Immune system
   04659 Th17 cell differentiation
    7046 (TGFBR1)
  09152 Endocrine system
   04926 Relaxin signaling pathway
    7046 (TGFBR1)
  09158 Development and regeneration
   04380 Osteoclast differentiation
    7046 (TGFBR1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    7046 (TGFBR1)
  09162 Cancer: specific types
   05210 Colorectal cancer
    7046 (TGFBR1)
   05212 Pancreatic cancer
    7046 (TGFBR1)
   05225 Hepatocellular carcinoma
    7046 (TGFBR1)
   05226 Gastric cancer
    7046 (TGFBR1)
   05220 Chronic myeloid leukemia
    7046 (TGFBR1)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    7046 (TGFBR1)
   05161 Hepatitis B
    7046 (TGFBR1)
  09174 Infectious disease: parasitic
   05142 Chagas disease
    7046 (TGFBR1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    7046 (TGFBR1)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    7046 (TGFBR1)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01001 Protein kinases [BR:hsa01001]
    7046 (TGFBR1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.11  Protein-serine/threonine kinases
    2.7.11.30  receptor protein serine/threonine kinase
     7046 (TGFBR1)
Protein kinases [BR:hsa01001]
 Receptor serine/threonine kinases (RSTK): TKL group
  TGFBR1 family [OT]
   7046 (TGFBR1)
SSDB
Motif
Pfam: Pkinase PK_Tyr_Ser-Thr TGF_beta_GS Activin_recp Pkinase_fungal APH FTA2 Haspin_kinase
Other DBs
NCBI-GeneID: 7046
NCBI-ProteinID: NP_004603
OMIM: 190181
HGNC: 11772
Ensembl: ENSG00000106799
UniProt: P36897 Q5T7S2 B4DXN7
Structure
LinkDB
Position
9:99103647..99154192
AA seq 503 aa
MEAAVAAPRPRLLLLVLAAAAAAAAALLPGATALQCFCHLCTKDNFTCVTDGLCFVSVTE
TTDKVIHNSMCIAEIDLIPRDRPFVCAPSSKTGSVTTTYCCNQDHCNKIELPTTVKSSPG
LGPVELAAVIAGPVCFVCISLMLMVYICHNRTVIHHRVPNEEDPSLDRPFISEGTTLKDL
IYDMTTSGSGSGLPLLVQRTIARTIVLQESIGKGRFGEVWRGKWRGEEVAVKIFSSREER
SWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTVE
GMIKLALSTASGLAHLHMEIVGTQGKPAIAHRDLKSKNILVKKNGTCCIADLGLAVRHDS
ATDTIDIAPNHRVGTKRYMAPEVLDDSINMKHFESFKRADIYAMGLVFWEIARRCSIGGI
HEDYQLPYYDLVPSDPSVEEMRKVVCEQKLRPNIPNRWQSCEALRVMAKIMRECWYANGA
ARLTALRIKKTLSQLSQQEGIKM
NT seq 1512 nt   +upstreamnt  +downstreamnt
atggaggcggcggtcgctgctccgcgtccccggctgctcctcctcgtgctggcggcggcg
gcggcggcggcggcggcgctgctcccgggggcgacggcgttacagtgtttctgccacctc
tgtacaaaagacaattttacttgtgtgacagatgggctctgctttgtctctgtcacagag
accacagacaaagttatacacaacagcatgtgtatagctgaaattgacttaattcctcga
gataggccgtttgtatgtgcaccctcttcaaaaactgggtctgtgactacaacatattgc
tgcaatcaggaccattgcaataaaatagaacttccaactactgtaaagtcatcacctggc
cttggtcctgtggaactggcagctgtcattgctggaccagtgtgcttcgtctgcatctca
ctcatgttgatggtctatatctgccacaaccgcactgtcattcaccatcgagtgccaaat
gaagaggacccttcattagatcgcccttttatttcagagggtactacgttgaaagactta
atttatgatatgacaacgtcaggttctggctcaggtttaccattgcttgttcagagaaca
attgcgagaactattgtgttacaagaaagcattggcaaaggtcgatttggagaagtttgg
agaggaaagtggcggggagaagaagttgctgttaagatattctcctctagagaagaacgt
tcgtggttccgtgaggcagagatttatcaaactgtaatgttacgtcatgaaaacatcctg
ggatttatagcagcagacaataaagacaatggtacttggactcagctctggttggtgtca
gattatcatgagcatggatccctttttgattacttaaacagatacacagttactgtggaa
ggaatgataaaacttgctctgtccacggcgagcggtcttgcccatcttcacatggagatt
gttggtacccaaggaaagccagccattgctcatagagatttgaaatcaaagaatatcttg
gtaaagaagaatggaacttgctgtattgcagacttaggactggcagtaagacatgattca
gccacagataccattgatattgctccaaaccacagagtgggaacaaaaaggtacatggcc
cctgaagttctcgatgattccataaatatgaaacattttgaatccttcaaacgtgctgac
atctatgcaatgggcttagtattctgggaaattgctcgacgatgttccattggtggaatt
catgaagattaccaactgccttattatgatcttgtaccttctgacccatcagttgaagaa
atgagaaaagttgtttgtgaacagaagttaaggccaaatatcccaaacagatggcagagc
tgtgaagccttgagagtaatggctaaaattatgagagaatgttggtatgccaatggagca
gctaggcttacagcattgcggattaagaaaacattatcgcaactcagtcaacaggaaggc
atcaaaatgtaa

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