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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASPN
asporin
Chromosome 9 · 9q22.31
NCBI Gene: 54829Ensembl: ENSG00000106819.14HGNC: HGNC:14872UniProt: A0AAG2UW46
96PubMed Papers
22Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of transforming growth factor beta receptor signaling pathwayextracellular matrixcalcium ion bindingbone mineralizationlumbar disc degenerationosteoarthritisneoplasmcancer
✦AI Summary

ASPN encodes asporin, a small leucine-rich proteoglycan that functions as a negative regulator of TGF-β and BMP signaling pathways across multiple tissues. In periodontal ligament, asporin inhibits BMP2-induced mineralization by blocking BMPR1B receptor binding and SMAD activation, preserving the non-ossified state of tooth-supporting tissues. In articular cartilage, asporin negatively regulates chondrogenesis by inhibiting TGF-β/Smad signaling, playing a critical role in cartilage homeostasis 1. ASPN is a susceptibility locus for osteoarthritis 2, with proposed mechanisms involving TGF-β pathway modulation and collagen mineralization 1. Beyond skeletal tissues, asporin serves as a protective factor in pulmonary arterial hypertension, where it is upregulated as a compensatory response and inhibits proliferation and TGF-β/pSMAD2/3 signaling in pulmonary artery smooth muscle cells 3. Asporin also associates with developmental dysplasia of the hip pathogenesis through its role in chondrogenesis 4. In fibrotic diseases including systemic sclerosis and heart failure, ASPN+ fibroblasts contribute to excessive extracellular matrix accumulation 56. These findings indicate asporin functions as a multitissue regulator of TGF-β signaling with implications for skeletal and fibrotic pathologies.

Sources cited
1
Asporin is a SLRP involved in OA pathogenesis through TGF-β signaling and collagen mineralization mechanisms
PMID: 25689697
2
ASPN is an osteoarthritis susceptibility locus identified in genetic studies
PMID: 21709558
3
Asporin is upregulated in PAH as a protective compensatory response and inhibits TGF-β/pSMAD2/3 signaling in pulmonary artery smooth muscle cells
PMID: 39167456
4
ASPN is a candidate gene associated with chondrogenesis in developmental dysplasia of the hip pathogenesis
PMID: 32244273
5
ASPN+ fibroblasts synergize with endothelial cells and macrophages to promote skin fibrosis in systemic sclerosis through TGF-β signaling
PMID: 39009432
6
ASPN is dysregulated in heart failure tissues and associated with fibrotic microenvironments in cancer
PMID: 39563337
Disease Associationsⓘ22
lumbar disc degenerationOpen Targets
0.38Weak
osteoarthritisOpen Targets
0.38Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.10Weak
gastric cancerOpen Targets
0.10Weak
obstructive sleep apneaOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.10Suggestive
mononeuropathyOpen Targets
0.09Suggestive
skin diseaseOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.08Suggestive
endometriosisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
KeloidOpen Targets
0.07Suggestive
papillary thyroid carcinomaOpen Targets
0.06Suggestive
Merkel cell skin cancerOpen Targets
0.06Suggestive
prostate neoplasmOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
periodontitisOpen Targets
0.05Suggestive
Intervertebral disc diseaseUniProt
Osteoarthritis 3UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COL3A1Protein interaction92%TGFB1Protein interaction92%POSTNProtein interaction92%OGNProtein interaction92%FRZBProtein interaction90%MATN3Protein interaction90%
Tissue Expression6 tissues
Heart
100%
Liver
13%
Lung
6%
Ovary
5%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASPNCOL3A1TGFB1POSTNOGNFRZBMATN3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6P528
View on AlphaFold ↗
RankingsWhere ASPN stands among ~20K protein-coding genes
  • #4,972of 20,598
    Most Researched96 · top quartile
Genes detectedASPN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Multidisciplinary consensus on the classification of prenatal and postnatal urinary tract dilation (UTD classification system).
PMID: 25435247
J Pediatr Urol · 2014
1.00
2
Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension.
PMID: 39167456
Circulation · 2024
0.90
3
Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.
PMID: 32244273
Medicina (Kaunas) · 2020
0.80
4
Single cell analysis of cribriform prostate cancer reveals cell intrinsic and tumor microenvironmental pathways of aggressive disease.
PMID: 36229464
Nat Commun · 2022
0.70
5
Genetics of osteoarthritis.
PMID: 21709558
Curr Opin Rheumatol · 2011
0.60