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25 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SMAD5
SMAD family member 5
Chromosome 5 · 5q31.1
NCBI Gene: 4090Ensembl: ENSG00000113658.19HGNC: HGNC:6771UniProt: Q68DB7
164PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of apoptotic processDEAD/H-box RNA helicase bindingnegative regulation of gene expressionintracellular iron ion homeostasisneurodegenerative diseaseinsomniabenign prostatic hyperplasiacongenital heart disease
✦AI Summary

SMAD5 is a receptor-regulated transcriptional mediator that transduces bone morphogenetic protein (BMP) and transforming growth factor-β (TGF-β) signaling. Upon BMP ligand binding, SMAD5 is phosphorylated by type I BMP receptors, associates with SMAD4, and translocates to the nucleus where the complex recognizes Smad Binding Elements to regulate gene expression 1. SMAD5 controls diverse biological processes including embryonic development, cell differentiation, osteoblast differentiation, and angiogenesis. Beyond its canonical nuclear role, non-phosphorylated SMAD5 regulates energy metabolism by promoting mitochondrial respiration and glycolysis through direct interaction with hexokinase 1 2. SMAD5 exhibits unique nuclear-cytoplasmic shuttling properties responsive to intracellular pH changes, distinguishing it from related Smad proteins 2. Dysregulation of SMAD5 is implicated in multiple pathologies: it suppresses intestinal fibrosis through BMP-7 activation 3, modulates granulosa cell apoptosis via the FasL-Fas pathway 4, and promotes osteogenic differentiation of stem cells 5. In hepatocellular carcinoma, SMAD5 undergoes gene amplification and upregulation rather than loss, suggesting oncogenic rather than tumor-suppressor roles 6. Recent evidence demonstrates SMAD5's involvement in stromal reprogramming within pancreatic cancer, where TGF-β-SMAD5 signaling regulates branched-chain amino acid metabolism 7.

Sources cited
1
SMAD5 is activated by TGF-β superfamily receptors, translocates to nucleus, and functions as transcriptional regulator; mechanism involves modulation by SARA and Smurf1
PMID: 10708948
2
SMAD5 participates in BMP signaling pathway and undergoes nuclear-cytoplasmic shuttling in response to intracellular pH changes; involved in proliferation, differentiation, apoptosis, and mitochondrial metabolism in respiratory diseases
PMID: 39578779
3
SMAD5 phosphorylation via BMP-7-Smad1/5/8 signaling alleviates intestinal fibrosis and ECM deposition
PMID: 40249230
4
miR-23a and miR-27a target SMAD5 to promote granulosa cell apoptosis via FasL-Fas pathway
PMID: 26400397
5
miR-20a-5p promotes osteogenic differentiation through BAMBI inhibition and SMAD5 phosphorylation activation
PMID: 34294156
6
SMAD5 undergoes gene copy number gain and amplification in hepatocellular carcinoma, with upregulated expression rather than loss
PMID: 14670176
7
TGF-β-SMAD5 axis regulates BCAT1 in cancer-associated fibroblasts to fuel branched-chain amino acid metabolism in pancreatic cancer
PMID: 32694827
8
miR-135b inhibits odontoblast-like differentiation by targeting and repressing SMAD5 and SMAD4 expression
PMID: 27422404
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.23Weak
insomniaOpen Targets
0.20Weak
benign prostatic hyperplasiaOpen Targets
0.19Weak
congenital heart diseaseOpen Targets
0.18Weak
nasopharyngeal carcinomaOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
KeloidOpen Targets
0.07Suggestive
chronic myelogenous leukemiaOpen Targets
0.06Suggestive
lymphatic system diseaseOpen Targets
0.06Suggestive
vein disorderOpen Targets
0.06Suggestive
pulmonary arterial hypertensionOpen Targets
0.06Suggestive
spermatogenic failure 12Open Targets
0.06Suggestive
spermatogenic failure 1Open Targets
0.05Suggestive
spermatogenic failure 48Open Targets
0.05Suggestive
spermatogenic failure 22Open Targets
0.05Suggestive
habitual abortionOpen Targets
0.05Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
spermatogenic failure 23Open Targets
0.05Suggestive
spermatogenic failure 52Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TGFBR1Protein interaction100%DROSHAProtein interaction100%MAPK3Protein interaction99%HMGA2Protein interaction94%SKILProtein interaction89%DDX5Protein interaction88%
Tissue Expression6 tissues
Ovary
100%
Heart
87%
Brain
71%
Liver
70%
Lung
56%
Bone Marrow
37%
Gene Interaction Network
Click a node to explore
SMAD5TGFBR1DROSHAMAPK3HMGA2SKILDDX5
PROTEIN STRUCTURE
Preparing viewer…
PDB6FZS · 2.31 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.17Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.04 [0.01–0.17]
RankingsWhere SMAD5 stands among ~20K protein-coding genes
  • #2,739of 20,598
    Most Researched164 · top quartile
  • #312of 17,882
    Most Constrained (LOEUF)0.17 · top 5%
Genes detectedSMAD5
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Tumour-reprogrammed stromal BCAT1 fuels branched-chain ketoacid dependency in stromal-rich PDAC tumours.
PMID: 32694827
Nat Metab · 2020
1.00
2
Exploring Smad5: a review to pave the way for a deeper understanding of the pathobiology of common respiratory diseases.
PMID: 39578779
Mol Med · 2024
0.90
3
The Smad pathway.
PMID: 10708948
Cytokine Growth Factor Rev · 2000
0.80
4
SMAD5 gene expression, rearrangements, copy number, and amplification at fragile site FRA5C in human hepatocellular carcinoma.
PMID: 14670176
Neoplasia · 2003
0.70
5
LncRNA MALAT1 promotes osteogenic differentiation through the miR-93-5p/SMAD5 axis.
PMID: 37533355
Oral Dis · 2024
0.68