Aliases for ASPN Gene
External Ids for ASPN Gene
Previous GeneCards Identifiers for ASPN Gene
This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
GeneCards Summary for ASPN Gene
ASPN (Asporin) is a Protein Coding gene. Diseases associated with ASPN include Intervertebral Disc Disease and Osteoarthritis. Among its related pathways are ECM proteoglycans and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and collagen binding. An important paralog of this gene is BGN.
UniProtKB/Swiss-Prot for ASPN Gene
Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity.