HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMAD2
SMAD family member 2
Chromosome 18 · 18q21.1
NCBI Gene: 4087Ensembl: ENSG00000175387.16HGNC: HGNC:6768UniProt: B7Z5N5
732PubMed Papers
22Diseases
0Drugs
38Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneTranscription Factor
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of transforming growth factor beta receptor signaling pathwayphosphatase bindingnegative regulation of ossificationpositive regulation of BMP signaling pathwayLoeys-Dietz syndrome 6congenital heart defects, multiple types, 8, with or without heterotaxycolorectal adenocarcinomaLoeys-Dietz syndrome
✦AI Summary

SMAD2 is a receptor-regulated SMAD protein that functions as a key intracellular signal transducer in TGF-β and activin signaling pathways 1. Upon activation by TGF-β type I receptor kinases, SMAD2 translocates from the cytoplasm to the nucleus where it forms complexes with SMAD4 to activate transcription of target genes 1. SMAD2 plays context-dependent roles in cancer: while potentially acting as a tumor suppressor in colorectal carcinoma, selective suppression of SMAD2 (with SMAD3 intact) paradoxically switches TGF-β signaling toward a prometastatic phenotype in non-small cell lung cancer 2. SMAD2 also cooperates with TGIF2 to promote epithelial-mesenchymal transition and cancer stem cell properties in pancreatic cancer through SOX2 co-regulation 3. Beyond cancer, SMAD2/3 phosphorylation is activated during trophoblast differentiation and contributes to placental development 4. In cardiac stem cells, TGF-β/SMAD2/3 signaling modulates proliferation and senescence, suggesting therapeutic potential for heart failure 5. SMAD2 activation also mediates pathological responses, including liver fibrosis via TGF-β/SMAD2/3 axis activation by environmental stressors 6 and cancer metastasis promotion through MPS1-dependent phosphorylation 7. Mutations in SMAD2 are associated with non-small cell lung cancer pathogenesis 8.

Sources cited
1
SMAD2 is activated by TGF-β superfamily receptor kinases, translocates to nucleus, and functions as transcriptional modulator
PMID: 10708948
2
SMAD2 suppression switches TGF-β signaling toward prometastatic state; CCT6A inhibits SMAD2 and promotes metastasis in NSCLC
PMID: 28375158
3
SMAD2 cooperates with TGIF2 to promote EMT and cancer stem cell properties in pancreatic cancer via SOX2 co-regulation
PMID: 39781447
4
SMAD2/3 phosphorylation is activated during trophoblast differentiation and placental development
PMID: 28864007
5
TGFβRI/II-SMAD2/3 signaling modulates proliferation and senescence in cardiac stem cells
PMID: 38256034
6
SMAD2/3 phosphorylation mediates liver fibrotic injury via ROS/TGF-β signaling axis
PMID: 36871749
7
MPS1-activated SMAD2/3 phosphorylation promotes cancer metastasis via Snail/Slug upregulation
PMID: 33811821
8
SMAD2 mutations detected in non-small cell lung cancer patients; elevated serum SMAD2 associated with NSCLC pathogenesis
PMID: 38015536
Disease Associationsⓘ22
Loeys-Dietz syndrome 6Open Targets
0.73Strong
congenital heart defects, multiple types, 8, with or without heterotaxyOpen Targets
0.60Moderate
colorectal adenocarcinomaOpen Targets
0.55Moderate
Loeys-Dietz syndromeOpen Targets
0.54Moderate
prostate carcinomaOpen Targets
0.49Moderate
cancerOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.47Moderate
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.43Moderate
colon adenocarcinomaOpen Targets
0.41Moderate
cervical carcinomaOpen Targets
0.39Weak
congenital heart diseaseOpen Targets
0.39Weak
gastric carcinomaOpen Targets
0.38Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cecum adenocarcinomaOpen Targets
0.37Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Congenital heart defects, multiple types, 8, with or without heterotaxyUniProt
Loeys-Dietz syndrome 6UniProt
Pathogenic Variants38
NM_005901.6(SMAD2):c.961C>T (p.Arg321Ter)Pathogenic
not provided|Loeys-Dietz syndrome
★★☆☆2025→ Residue 321
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)Pathogenic
not provided
★★☆☆2025→ Residue 120
NM_005901.6(SMAD2):c.544C>T (p.Arg182Ter)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 182
NM_005901.6(SMAD2):c.790C>T (p.Gln264Ter)Pathogenic
SMAD2-related disorder|not provided
★★☆☆2025→ Residue 264
NM_005901.6(SMAD2):c.237-2A>GLikely pathogenic
Loeys-Dietz syndrome|not provided
★★☆☆2025
NM_005901.6(SMAD2):c.189del (p.Ala64fs)Pathogenic
not provided
★★☆☆2025→ Residue 64
NM_005901.6(SMAD2):c.141_144dup (p.Val49fs)Pathogenic
not provided
★☆☆☆2025→ Residue 49
NM_005901.6(SMAD2):c.1136-1G>ALikely pathogenic
Inborn genetic diseases
★☆☆☆2025
NM_005901.6(SMAD2):c.1186C>T (p.Gln396Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 396
NM_005901.6(SMAD2):c.392T>A (p.Leu131Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 131
NM_005901.6(SMAD2):c.891_894del (p.Leu297_Thr298insTer)Pathogenic
not provided
★☆☆☆2025→ Residue 297
NM_005901.6(SMAD2):c.655+1G>CLikely pathogenic
not provided
★☆☆☆2025
NM_005901.6(SMAD2):c.880C>T (p.Gln294Ter)Pathogenic
Loeys-Dietz syndrome 6
★☆☆☆2025→ Residue 294
NM_005901.6(SMAD2):c.941G>C (p.Gly314Ala)Likely pathogenic
Loeys-Dietz syndrome 6
★☆☆☆2025→ Residue 314
NM_005901.6(SMAD2):c.1045T>C (p.Cys349Arg)Likely pathogenic
not provided
★☆☆☆2024→ Residue 349
NM_005901.6(SMAD2):c.544dup (p.Arg182fs)Pathogenic
Congenital heart defects, multiple types, 8, with or without heterotaxy
★☆☆☆2024→ Residue 182
NM_005901.6(SMAD2):c.394T>A (p.Trp132Arg)Likely pathogenic
not provided
★☆☆☆2023→ Residue 132
NM_005901.6(SMAD2):c.1325T>G (p.Leu442Arg)Pathogenic
not provided
★☆☆☆2023→ Residue 442
NM_005901.6(SMAD2):c.1059T>G (p.Ser353Arg)Likely pathogenic
Loeys-Dietz syndrome 6
★☆☆☆2022→ Residue 353
NM_005901.6(SMAD2):c.985A>G (p.Arg329Gly)Pathogenic
not provided
★☆☆☆2022→ Residue 329
View on ClinVar ↗
Related Genes
TGFBR1Protein interaction100%NEDD4LProtein interaction100%FOXH1Protein interaction100%TRIM33Protein interaction100%TP53Protein interaction100%YAP1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Lung
69%
Heart
69%
Ovary
67%
Bone Marrow
52%
Liver
41%
Gene Interaction Network
Click a node to explore
SMAD2TGFBR1NEDD4LFOXH1TRIM33TP53YAP1
PROTEIN STRUCTURE
Preparing viewer…
PDB6YIA · 1.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.07–0.25]
RankingsWhere SMAD2 stands among ~20K protein-coding genes
  • #289of 20,598
    Most Researched732 · top 5%
  • #1,581of 5,498
    Most Pathogenic Variants38
  • #754of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedSMAD2
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
Creatine promotes cancer metastasis through activation of Smad2/3.
PMID: 33811821
Cell Metab · 2021
1.00
2
Long Noncoding RNA TP73-AS1 Targets MicroRNA-329-3p to Regulate Expression of the SMAD2 Gene in Human Cervical Cancer Tissue and Cell Lines.
PMID: 31663517
Med Sci Monit · 2019
0.96
3
Secreted phosphoprotein 1 promotes the activation of keloid fibroblasts via the CD44/TGF-β1/Smad pathway.
PMID: 40571139
Exp Cell Res · 2025
0.90
4
Polystyrene microplastics-induced macrophage extracellular traps contributes to liver fibrotic injury by activating ROS/TGF-β/Smad2/3 signaling axis.
PMID: 36871749
Environ Pollut · 2023
0.90
5
NEAT1/miR-200b-3p/SMAD2 axis promotes progression of melanoma.
PMID: 33202380
Aging (Albany NY) · 2020
0.88