SMAD3 (SMAD family member 3)

2003-02-01  

Identity

HGNC
SMAD3
LOCATION
15q22.33
LOCUSID
4088
ALIAS
HSPC193,HsT17436,JV15-2,LDS1C,LDS3,MADH3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
377390892024BRD9-SMAD2/3 Orchestrates Stemness and Tumorigenesis in Pancreatic Ductal Adenocarcinoma.3
379217542024Superoxide dismutase 2 scavenges ROS to promote osteogenic differentiation of human periodontal ligament stem cells by regulating Smad3 in alveolar bone-defective rats.2
380614862024POH1 induces Smad3 deubiquitination and promotes lung cancer metastasis.0
380666782024Investigating dysregulation of TGF-β1/SMAD3 signaling in atopic dermatitis: a molecular and immunohistochemical analysis.1
380888652024Sex-specific increases in myostatin and SMAD3 contribute to obesity-related insulin resistance in human skeletal muscle and primary human myotubes.0
380935162024Therapeutic potential for renal fibrosis by targeting Smad3-dependent noncoding RNAs.0
381417632024The Snail signaling branch downstream of the TGF-β/Smad3 pathway mediates Rho activation and subsequent stress fiber formation.3
383838422024MAP4K4 and WT1 mediate SOX6-induced cellular senescence by synergistically activating the ATF2-TGFβ2-Smad2/3 signaling pathway in cervical cancer.0
384530452024TGF-β1/SMAD3-driven GLI2 isoform expression contributes to aggressive phenotypes of hepatocellular carcinoma.1
384931282024Single-cell transcriptomic sequencing data reveal aberrant DNA methylation in SMAD3 promoter region in tumor-associated fibroblasts affecting molecular mechanism of radiosensitivity in non-small cell lung cancer.0
384958102024DUSP22 Ameliorates Endothelial-to-Mesenchymal Transition in HUVECs through Smad2/3 and MAPK Signaling Pathways.0
385278042024Linc00673-V3 positively regulates autophagy by promoting Smad3-mediated LC3B transcription in NSCLC.0
387896302024Exosomes derived from adipose tissue-derived stem cells alleviated H(2)O(2)-induced oxidative stress and endothelial-to-mesenchymal transition in human umbilical vein endothelial cells by inhibition of the mir-486-3p/Sirt6/Smad signaling pathway.0
377390892024BRD9-SMAD2/3 Orchestrates Stemness and Tumorigenesis in Pancreatic Ductal Adenocarcinoma.3
379217542024Superoxide dismutase 2 scavenges ROS to promote osteogenic differentiation of human periodontal ligament stem cells by regulating Smad3 in alveolar bone-defective rats.2

Citation

Dessen P

SMAD3 (SMAD family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41229/smad3-(smad-family-member-3)