IBSP
integrin binding sialoprotein
Summary
The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2616262 | 4:88,723,210 | G/C | — | — |
| rs114009564 | 4:88,723,842 | C/T | — | likely benign |
| rs958476196 | 4:88,727,279 | T/G | — | uncertain significance |
| rs747891903 | 4:88,731,792 | C/T | — | uncertain significance |
| rs748954490 | 4:88,732,595 | G/A | — | uncertain significance |
| rs200405481 | 4:88,732,603 | C/A | — | uncertain significance |
| rs913138212 | 4:88,732,604 | G/A | — | uncertain significance |
| rs764288009 | 4:88,732,688 | G/A | — | uncertain significance |
| rs1054627 | 4:88,732,692 | G/A | missense variant | — |
| rs756145939 | 4:88,732,698 | A/T | — | uncertain significance |
| rs746206406 | 4:88,732,760 | G/C | — | uncertain significance |
| rs17013181 | 4:88,732,763 | A/G | missense variant | — |
| rs2476105905 | 4:88,732,931 | T/C | — | uncertain significance |
| rs2476105986 | 4:88,732,976 | T/C | — | uncertain significance |
| rs781263479 | 4:88,733,054 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.