ASPN

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]

Description

Asporin

Tissue specificity

Tissue enhanced (heart muscle, smooth muscle)

Subcell location

Nucleoplasm, Cytosol

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

9 (92456205 - 92482506)

Ensembl ID

ENSG00000106819  (ver. 103.38)

Orthologs

Mouse Aspn: ENSMUSG00000021388

UniProt

Q9BXN1

neXtProt

NX_Q9BXN1

Human splice variants
Mouse splice variants

Protein structure