SMAD3 (SMAD family member 3)

2003-02-01  

Identity

HGNC
LOCATION
15q22.33
LOCUSID
ALIAS
HSPC193,HsT17436,JV15-2,LDS1C,LDS3,MADH3
FUSION GENES

Other Information

Locus ID:

NCBI: 4088
MIM: 603109
HGNC: 6769
Ensembl: ENSG00000166949

Variants:

dbSNP: 4088
ClinVar: 4088
TCGA: ENSG00000166949
COSMIC: SMAD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166949ENST00000327367P84022
ENSG00000166949ENST00000327367A0A024R5Z3
ENSG00000166949ENST00000439724P84022
ENSG00000166949ENST00000537194P84022
ENSG00000166949ENST00000540846P84022
ENSG00000166949ENST00000558428H0YNV1
ENSG00000166949ENST00000558739H0YMP2
ENSG00000166949ENST00000558827H0YKE2
ENSG00000166949ENST00000558894H3BVD1
ENSG00000166949ENST00000559092H0YMY0
ENSG00000166949ENST00000559460H0YL71
ENSG00000166949ENST00000560175H3BP09
ENSG00000166949ENST00000560424H3BQ00

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Cell cycleKEGGko04110
Wnt signaling pathwayKEGGko04310
TGF-beta signaling pathwayKEGGko04350
Adherens junctionKEGGko04520
Colorectal cancerKEGGko05210
Pancreatic cancerKEGGko05212
Chronic myeloid leukemiaKEGGko05220
Cell cycleKEGGhsa04110
Wnt signaling pathwayKEGGhsa04310
TGF-beta signaling pathwayKEGGhsa04350
Adherens junctionKEGGhsa04520
Pathways in cancerKEGGhsa05200
Colorectal cancerKEGGhsa05210
Pancreatic cancerKEGGhsa05212
Chronic myeloid leukemiaKEGGhsa05220
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Hepatitis BKEGGhsa05161
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390
Inflammatory bowel disease (IBD)KEGGhsa05321
Inflammatory bowel disease (IBD)KEGGko05321
FoxO signaling pathwayKEGGhsa04068
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
TGF-beta signalingKEGGhsa_M00680
Activin signalingKEGGhsa_M00681
TGF-beta signalingKEGGM00680
Activin signalingKEGGM00681
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by TGF-beta Receptor Complex in CancerREACTOMER-HSA-3304351
Loss of Function of SMAD4 in CancerREACTOMER-HSA-3304347
SMAD4 MH2 Domain Mutants in CancerREACTOMER-HSA-3311021
Loss of Function of SMAD2/3 in CancerREACTOMER-HSA-3304349
SMAD2/3 Phosphorylation Motif Mutants in CancerREACTOMER-HSA-3304356
SMAD2/3 MH2 Domain Mutants in CancerREACTOMER-HSA-3315487
Loss of Function of TGFBR1 in CancerREACTOMER-HSA-3656534
TGFBR1 KD Mutants in CancerREACTOMER-HSA-3656532
Signal TransductionREACTOMER-HSA-162582
Signaling by TGF-beta Receptor ComplexREACTOMER-HSA-170834
TGF-beta receptor signaling activates SMADsREACTOMER-HSA-2173789
Downregulation of TGF-beta receptor signalingREACTOMER-HSA-2173788
Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimerREACTOMER-HSA-2173793
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcriptionREACTOMER-HSA-2173796
Downregulation of SMAD2/3:SMAD4 transcriptional activityREACTOMER-HSA-2173795
Signaling by ActivinREACTOMER-HSA-1502540
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Developmental BiologyREACTOMER-HSA-1266738
Signaling by NODALREACTOMER-HSA-1181150
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
DeubiquitinationREACTOMER-HSA-5688426
Ub-specific processing proteasesREACTOMER-HSA-5689880
Th17 cell differentiationKEGGko04659
Th17 cell differentiationKEGGhsa04659
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA161907438Thoracic Aortic Aneurysms and Dissections (TAAD)DiseaseDataAnnotationassociated
PA166123310loeys-dietz syndromeDiseaseDataAnnotationassociated
PA24456ACTA2GeneDataAnnotationassociated
PA28016FBN1GeneDataAnnotationassociated
PA31367MYH11GeneDataAnnotationassociated
PA31388MYLKGeneDataAnnotationassociated
PA36485TGFBR1GeneDataAnnotationassociated
PA36486TGFBR2GeneDataAnnotationassociated
PA444880Marfan SyndromeDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
208605032010A large-scale, consortium-based genomewide association study of asthma.610
185680182008TAZ controls Smad nucleocytoplasmic shuttling and regulates human embryonic stem-cell self-renewal.246
212177532011Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.201
176389102007Induction of sonic hedgehog mediators by transforming growth factor-beta: Smad3-dependent activation of Gli2 and Gli1 expression in vitro and in vivo.158
121914742002Nucleocytoplasmic shuttling of Smads 2, 3, and 4 permits sensing of TGF-beta receptor activity.141
199172532009Ubiquitin ligase Nedd4L targets activated Smad2/3 to limit TGF-beta signaling.141
223856582012Signaling network crosstalk in human pluripotent cells: a Smad2/3-regulated switch that controls the balance between self-renewal and differentiation.128
165432202006Smad3-dependent nuclear translocation of beta-catenin is required for TGF-beta1-induced proliferation of bone marrow-derived adult human mesenchymal stem cells.102
125316952003TGF-beta1-mediated fibroblast-myofibroblast terminal differentiation-the role of Smad proteins.99
156235062005Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment.98

Citation

Dessen P

SMAD3 (SMAD family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41229/smad3