ASPN (Asporin) Gene
A small leucine-rich proteoglycan involved in osteoarthritis, cancer, and connective tissue disorders
Gene Information Card
| Symbol | ASPN |
|---|---|
| Full Name | Asporin |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.31 |
| NCBI Gene ID | 54829 ncbi.nlm.nih.gov/gene/54829 |
| Ensembl ID | ENSG00000106819 |
| UniProt ID | Q9BXN1 |
| OMIM ID | 608135 |
| HGNC ID | 14872 |
| Aliases | PLAP-1, SLRR1C, ASPN_HUMAN |
Description
ASPN encodes asporin, a member of the small leucine-rich proteoglycan (SLRP) family. Asporin binds collagen and calcium, regulates TGF-β signaling, and is involved in extracellular matrix organization. It is primarily expressed in cartilage, bone, and periodontal tissues. Polymorphisms in ASPN are strongly associated with osteoarthritis, and altered expression is observed in several cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | ASPN D-repeat polymorphism (D13-D14) alters TGF-β binding and cartilage matrix regulation | PMID: 15785747, ClinVar |
| Lumbar disc degeneration | ASPN variants affect intervertebral disc matrix integrity | PMID: 23321623 |
| Breast cancer | ASPN overexpression promotes tumor cell migration and invasion via TGF-β pathway | PMID: 25636845 |
| Pancreatic cancer | ASPN upregulation correlates with poor prognosis and stromal remodeling | PMID: 27555519 |
| Periodontal disease | ASPN expression in periodontal ligament influences tissue repair | PMID: 18489728 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Bone | 8.3 | Low |
| Heart | 3.1 | Low |
| Lung | 1.2 | Not detected |
| Liver | 0.5 | Not detected |
| Kidney | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.2 | Not detected |
| HeLa | 0.1 | Not detected |
| MCF7 | 1.5 | Low |
| MDA-MB-231 | 4.2 | Medium |
| SW480 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| D-repeat polymorphism (D13/D14) | In-frame insertion/deletion | Common (allele frequency varies) | Alters TGF-β binding affinity |
| c.226G>A (p.Gly76Arg) | Missense | Rare | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; D-repeat variants may reduce TGF-β inhibition.
Gain of Function (GOF)
D14 repeat associated with increased osteoarthritis risk, possibly via enhanced TGF-β antagonism.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• ECM-receptor interaction (KEGG: hsa04512)
• Proteoglycans in cancer (KEGG: hsa05205)
Protein Summary
Asporin is a 380-amino acid secreted proteoglycan with an N-terminal signal peptide, a central leucine-rich repeat (LRR) domain, and a C-terminal domain. It lacks glycosaminoglycan side chains typical of other SLRPs. Asporin binds to collagen type I and TGF-β, modulating matrix assembly and growth factor signaling. It is implicated in osteoarthritis susceptibility, cancer progression, and periodontal tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPN Knockout HEK293 Cell Line | EDJ-KQ12028 | Human | 54829 | Details Get a Quote |
| ASPN Knockout HeLa Cell Line | EDJ-KQ56480 | Human | 54829 | Details Get a Quote |
| ASPN Knockout A-549 Cell Line | EDJ-KQ64972 | Human | 54829 | Details Get a Quote |
| ASPN Knockout HCT 116 Cell Line | EDJ-KQ73418 | Human | 54829 | Details Get a Quote |
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