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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SMAD9
SMAD family member 9
Chromosome 13 Β· 13q13.3
NCBI Gene: 4093Ensembl: ENSG00000120693.17HGNC: HGNC:6774UniProt: O15198
79PubMed Papers
21Diseases
0Drugs
28Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingosteoblast differentiationintracellular iron ion homeostasisBMP signaling pathwaypulmonary hypertension, primary, 2pulmonary arterial hypertensionheritable pulmonary arterial hypertensionidiopathic pulmonary arterial hypertension
✦AI Summary

SMAD9 is a receptor-regulated SMAD protein that functions as a BMP-responsive transcriptional modulator involved in multiple physiological and pathological processes. As a key component of BMP signaling, SMAD9 translocates to the nucleus upon activation by BMP type 1 receptor kinase, where it acts as a DNA-binding transcription factor regulating gene expression through RNA polymerase II 1. SMAD9 plays critical roles in osteoblast differentiation and stem cell differentiation; recent evidence shows that lncRNA KCNMA1-AS1 promotes osteogenic differentiation of bone marrow mesenchymal stem cells by directly activating SMAD9 signaling 2. Beyond bone biology, SMAD9 exhibits oncogenic properties in neuroblastoma, forming a positive transcriptional feedback loop with MYCN that sustains high-risk disease 3. Clinically, SMAD9 variants have definitive evidence for causing pulmonary arterial hypertension (PAH), with pathogenic mutations identified in PAH patients; however, sotatercept treatment shows consistent efficacy regardless of SMAD9 variant status 14. Additionally, SMAD9 expression is elevated in chr13 thromboembolic pulmonary hypertension 5, and genetic polymorphisms in SMAD9 associate with essential hypertension risk in Han Chinese populations 6. Emerging evidence suggests a human SMAD9 (GCC)-repeat may influence late-onset Alzheimer's disease and vascular dementia susceptibility 7.

Sources cited
1
SMAD9 classified as having definitive evidence for PAH causality and recommended for inclusion in genetic testing
PMID: 37422716
2
SMAD9 forms a positive feedback loop with MYCN in neuroblastoma, representing a tumor dependency
PMID: 36539767
3
SMAD9 (GCC)-repeat associated with late-onset neurocognitive disorders, Alzheimer's disease, and vascular dementia
PMID: 38877206
4
Sotatercept shows consistent safety and efficacy for PAH treatment regardless of SMAD9 variant status
PMID: 40035659
5
SMAD9 gene polymorphisms at rs397514716 locus associated with essential hypertension risk
PMID: 30617053
6
SMAD9 expression elevated in chronic thromboembolic pulmonary hypertension patients
PMID: 41072776
7
SMAD9 mutations less commonly cause heritable pulmonary arterial hypertension
PMID: 24267296
8
SMAD9 signaling pathway activation by lncRNA KCNMA1-AS1 promotes osteogenic differentiation of bone marrow mesenchymal stem cells
PMID: 38017487
Disease Associationsβ“˜21
pulmonary hypertension, primary, 2Open Targets
0.69Moderate
pulmonary arterial hypertensionOpen Targets
0.56Moderate
heritable pulmonary arterial hypertensionOpen Targets
0.56Moderate
idiopathic pulmonary arterial hypertensionOpen Targets
0.47Moderate
colorectal cancerOpen Targets
0.44Moderate
lung cancerOpen Targets
0.35Weak
anal neoplasmOpen Targets
0.32Weak
colonic neoplasmOpen Targets
0.32Weak
Myocardial IschemiaOpen Targets
0.32Weak
benign chondrogenic neoplasmOpen Targets
0.32Weak
benign colon neoplasmOpen Targets
0.31Weak
rectal neoplasmOpen Targets
0.31Weak
colorectal adenomaOpen Targets
0.31Weak
aortic stenosisOpen Targets
0.31Weak
Pulmonary arterial hypertension associated with congenital heart diseaseOpen Targets
0.30Weak
genetic disorderOpen Targets
0.19Weak
pulmonary hypertension, primary, 1Open Targets
0.19Weak
Nijmegen breakage syndromeOpen Targets
0.08Suggestive
bronchiectasisOpen Targets
0.07Suggestive
Duchenne muscular dystrophyOpen Targets
0.07Suggestive
Pulmonary hypertension, primary, 2UniProt
Pathogenic Variants28
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 129
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)Pathogenic
Pulmonary hypertension, primary, 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 294
NM_001127217.3(SMAD9):c.811C>T (p.Gln271Ter)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜…β˜†β˜†2025β†’ Residue 271
NM_001127217.3(SMAD9):c.137_140del (p.Lys46fs)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜…β˜†β˜†2024β†’ Residue 46
NM_001127217.3(SMAD9):c.564_567dup (p.Pro190fs)Likely pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜…β˜†β˜†2024β†’ Residue 190
NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)Pathogenic
Pulmonary arterial hypertension associated with congenital heart disease|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 68
NM_001127217.3(SMAD9):c.850C>T (p.Arg284Ter)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 284
NM_001127217.3(SMAD9):c.282_283del (p.Trp96fs)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 96
NM_001127217.3(SMAD9):c.668C>G (p.Ser223Ter)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 223
NM_001127217.3(SMAD9):c.696dup (p.Ala233fs)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 233
NM_001127217.3(SMAD9):c.203dup (p.Cys68fs)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2025β†’ Residue 68
NM_001127217.3(SMAD9):c.801C>A (p.Tyr267Ter)Likely pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 267
NM_001127217.3(SMAD9):c.98G>A (p.Trp33Ter)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 33
NM_001127217.3(SMAD9):c.812del (p.Gln271fs)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 271
NM_001127217.3(SMAD9):c.318_322dup (p.Lys108delinsSerTer)Likely pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 108
NM_001127217.3(SMAD9):c.767del (p.Leu255_Ser256insTer)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 255
NM_001127217.3(SMAD9):c.137dup (p.Lys47fs)Likely pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 47
NM_001127217.3(SMAD9):c.199_232del (p.Lys67fs)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 67
NM_001127217.3(SMAD9):c.1004-2A>GLikely pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024
NM_001127217.3(SMAD9):c.71G>A (p.Trp24Ter)Pathogenic
Pulmonary hypertension, primary, 2
β˜…β˜†β˜†β˜†2024β†’ Residue 24
View on ClinVar β†—
Related Genes
TGFBR1Protein interaction100%MAPK3Protein interaction99%LEMD3Protein interaction98%HMGA2Protein interaction94%SMAD2Protein interaction92%BMP2Protein interaction89%
Tissue Expression6 tissues
Brain
100%
Ovary
45%
Heart
31%
Lung
23%
Liver
8%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
SMAD9TGFBR1MAPK3LEMD3HMGA2SMAD2BMP2
PROTEIN STRUCTURE
Preparing viewer…
PDB6FZT Β· 2.46 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.58–1.02]
RankingsWhere SMAD9 stands among ~20K protein-coding genes
  • #6,035of 20,598
    Most Researched79
  • #1,871of 5,498
    Most Pathogenic Variants28
  • #9,963of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedSMAD9
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
PMID: 37422716
Genet Med Β· 2023
1.00
2
SMAD9-MYCN positive feedback loop represents a unique dependency for MYCN-amplified neuroblastoma.
PMID: 36539767
J Exp Clin Cancer Res Β· 2022
0.90
3
The human SMAD9 (GCC) repeat links to natural selection and late-onset neurocognitive disorders.
PMID: 38877206
Neurol Sci Β· 2024
0.80
4
Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in
PMID: 40035659
Am J Respir Crit Care Med Β· 2025
0.70
5
Association of the gene polymorphisms of
PMID: 30617053
Biosci Rep Β· 2019
0.60