ASPN
asporin
Summary
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]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1564330399 | 9:95,219,620 | G/A | — | uncertain significance |
| rs539600204 | 9:95,222,832 | A/G | — | likely benign |
| rs1845252220 | 9:95,227,283 | A/T | — | uncertain significance |
| rs41278695 | 9:95,228,663 | C/T | — | benign |
| rs13301537 | 9:95,229,047 | A/G | intron variant | — |
| rs144079283 | 9:95,232,957 | T/A | — | likely benign |
| rs150545989 | 9:95,237,048 | A/G | — | likely benign |
| rs144125864 | 9:95,237,091 | A/G | — | likely benign |
| rs1384984556 | 9:95,237,118 | G/T | — | uncertain significance |
| rs113478791 | 9:95,242,616 | T/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.