KEGG   VARIANT: 4087v1Help
Entry
4087v1                      Variant                                

Name
SMAD2 mutation
Gene
SMAD2  SMAD family member 2 [KO:K04500]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D450E
COSM: 6023536
Variation
mutation P445H
COSM: 6053940
Variation
mutation L440R
COSM: 6053941
Variation
mutation R133C
COSM: 3378505
Network
nt06218  TGFB signaling
nt06260  Colorectal cancer
  Element
N00065  Mutation-inactivated SMAD2 to TGF-beta signaling pathway
Reference
PMID:8752209
  Authors
Eppert K, Scherer SW, Ozcelik H, Pirone R, Hoodless P, Kim H, Tsui LC, Bapat B, Gallinger S, Andrulis IL, Thomsen GH, Wrana JL, Attisano L
  Title
MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma.
  Journal
Cell 86:543-52 (1996)
DOI:10.1016/S0092-8674(00)80128-2
Reference
  Authors
Fleming NI, Jorissen RN, Mouradov D, Christie M, Sakthianandeswaren A, Palmieri M, Day F, Li S, Tsui C, Lipton L, Desai J, Jones IT, McLaughlin S, Ward RL, Hawkins NJ, Ruszkiewicz AR, Moore J, Zhu HJ, Mariadason JM, Burgess AW, Busam D, Zhao Q, Strausberg RL, Gibbs P, Sieber OM
  Title
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
  Journal
Cancer Res 73:725-35 (2013)
DOI:10.1158/0008-5472.CAN-12-2706
Reference
  Authors
Roman C, Saha D, Beauchamp R.
  Title
TGF-beta and colorectal carcinogenesis.
  Journal
LinkDB All DBs

KEGG   Homo sapiens (human): 4088Help
Entry
4088              CDS       T01001                                 

Gene name
SMAD3, HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
Definition
(RefSeq) SMAD family member 3
  KO
K23605  mothers against decapentaplegic homolog 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04144  Endocytosis
hsa04218  Cellular senescence
hsa04310  Wnt signaling pathway
hsa04350  TGF-beta signaling pathway
hsa04371  Apelin signaling pathway
hsa04390  Hippo signaling pathway
hsa04520  Adherens junction
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04659  Th17 cell differentiation
hsa04933  AGE-RAGE signaling pathway in diabetic complications
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
hsa05321  Inflammatory bowel disease (IBD)
Network
nt06118  TGFB signaling (viruses)
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06162  Hepatitis B virus (HBV)
nt06218  TGFB signaling
nt06260  Colorectal cancer
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
nt06276  Chronic myeloid leukemia
  Element
N00063  TGF-beta signaling pathway
N00064  Mutation-inactivated TGFBR2 to TGF-beta signaling pathway
N00065  Mutation-inactivated SMAD2 to TGF-beta signaling pathway
N00106  AML1-EVI1 fusion to TGF-beta signaling pathway
N00107  EVI-1 overexpression to TGF-beta signaling pathway
N00241  TGFBR2-reduced expression to TGF-beta signaling pathway
N00256  TGFBR1-reduced expression to TGF-beta signaling pathway
N00507  HTLV-1 Tax to TGF-beta signaling pathway
N00531  HBV HBx to TGF-beta signaling pathway
Disease
H00800  Loeys-Dietz syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    4088 (SMAD3)
   04350 TGF-beta signaling pathway
    4088 (SMAD3)
   04390 Hippo signaling pathway
    4088 (SMAD3)
   04371 Apelin signaling pathway
    4088 (SMAD3)
   04068 FoxO signaling pathway
    4088 (SMAD3)
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    4088 (SMAD3)
  09143 Cell growth and death
   04110 Cell cycle
    4088 (SMAD3)
   04218 Cellular senescence
    4088 (SMAD3)
  09144 Cellular community - eukaryotes
   04520 Adherens junction
    4088 (SMAD3)
   04550 Signaling pathways regulating pluripotency of stem cells
    4088 (SMAD3)
 09150 Organismal Systems
  09151 Immune system
   04659 Th17 cell differentiation
    4088 (SMAD3)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    4088 (SMAD3)
  09162 Cancer: specific types
   05210 Colorectal cancer
    4088 (SMAD3)
   05212 Pancreatic cancer
    4088 (SMAD3)
   05225 Hepatocellular carcinoma
    4088 (SMAD3)
   05226 Gastric cancer
    4088 (SMAD3)
   05220 Chronic myeloid leukemia
    4088 (SMAD3)
  09163 Immune disease
   05321 Inflammatory bowel disease (IBD)
    4088 (SMAD3)
  09167 Endocrine and metabolic disease
   04933 AGE-RAGE signaling pathway in diabetic complications
    4088 (SMAD3)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    4088 (SMAD3)
   05161 Hepatitis B
    4088 (SMAD3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: MH2 MH1 IRF-3
Motif
Other DBs
NCBI-GeneID: 4088
NCBI-ProteinID: NP_005893
OMIM: 603109
HGNC: 6769
Ensembl: ENSG00000166949
Vega: OTTHUMG00000133230
Pharos: P84022(Tbio)
UniProt: P84022 A0A024R5Z3 Q9P0T0
LinkDB All DBs
Structure
PDB: 

Position
15q22.33
AA seq 425 aa AA seqDB search
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNV
NTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEV
CVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETP
PPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYEL
NQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIG
GEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGF
EAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIR
CSSVS
NT seq 1278 nt NT seq  +upstreamnt  +downstreamnt
atgtcgtccatcctgcctttcactcccccgatcgtgaagcgcctgctgggctggaagaag
ggcgagcagaacgggcaggaggagaaatggtgcgagaaggcggtcaagagcctggtcaag
aaactcaagaagacggggcagctggacgagctggagaaggccatcaccacgcagaacgtc
aacaccaagtgcatcaccatccccaggtccctggatggccggttgcaggtgtcccatcgg
aaggggctccctcatgtcatctactgccgcctgtggcgatggccagacctgcacagccac
cacgagctacgggccatggagctgtgtgagttcgccttcaatatgaagaaggacgaggtc
tgcgtgaatccctaccactaccagagagtagagacaccagttctacctcctgtgttggtg
ccacgccacacagagatcccggccgagttccccccactggacgactacagccattccatc
cccgaaaacactaacttccccgcaggcatcgagccccagagcaatattccagagacccca
ccccctggctacctgagtgaagatggagaaaccagtgaccaccagatgaaccacagcatg
gacgcaggttctccaaacctatccccgaatccgatgtccccagcacataataacttggac
ctgcagccagttacctactgcgagccggccttctggtgctccatctcctactacgagctg
aaccagcgcgtcggggagacattccacgcctcgcagccatccatgactgtggatggcttc
accgacccctccaattcggagcgcttctgcctagggctgctctccaatgtcaacaggaat
gcagcagtggagctgacacggagacacatcggaagaggcgtgcggctctactacatcgga
ggggaggtcttcgcagagtgcctcagtgacagcgctatttttgtccagtctcccaactgt
aaccagcgctatggctggcacccggccaccgtctgcaagatcccaccaggatgcaacctg
aagatcttcaacaaccaggagttcgctgccctcctggcccagtcggtcaaccagggcttt
gaggctgtctaccagttgacccgaatgtgcaccatccgcatgagcttcgtcaaaggctgg
ggagcggagtacaggagacagactgtgaccagtaccccctgctggattgagctgcacctg
aatgggcctttgcagtggcttgacaaggtcctcacccagatgggctccccaagcatccgc
tgttccagtgtgtcttag

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