SPP1
secreted phosphoprotein 1
Summary
The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2853744 | 4:88,896,248 | G/C | — | — |
| rs11730582 | 4:88,896,421 | T/C | upstream gene variant | — |
| rs28357094 | 4:88,896,797 | T/G | regulatory region variant | — |
| rs2476312685 | 4:88,898,075 | C/A | — | uncertain significance |
| rs1184030932 | 4:88,898,101 | A/G | — | likely benign |
| rs141235817 | 4:88,898,217 | C/A | — | uncertain significance |
| rs745850418 | 4:88,898,220 | G/T | — | uncertain significance |
| rs751147462 | 4:88,898,233 | G/T | — | uncertain significance |
| rs11728697 | 4:88,898,941 | C/T | intron variant | — |
| rs6839524 | 4:88,899,533 | C/G | intron variant | — |
| rs139555315 | 4:88,901,197 | G/A | splice region variant | — |
| rs1725581367 | 4:88,901,222 | G/A | — | uncertain significance |
| rs61731005 | 4:88,901,230 | A/G | — | likely benign |
| rs1011223303 | 4:88,901,273 | C/A | — | uncertain significance |
| rs6532040 | 4:88,902,202 | A/G | intron variant | — |
| rs200088575 | 4:88,902,627 | A/G | — | uncertain significance |
| rs376158660 | 4:88,902,648 | G/A | — | likely benign |
| rs4754 | 4:88,902,692 | T/A | missense variant | — |
| rs146552179 | 4:88,902,704 | C/A | — | likely benign |
| rs548632224 | 4:88,902,729 | G/A | — | uncertain significance |
| rs762752206 | 4:88,902,817 | T/C | — | uncertain significance |
| rs2476325313 | 4:88,902,838 | C/T | — | uncertain significance |
| rs775719155 | 4:88,902,865 | C/G | — | uncertain significance |
| rs199647345 | 4:88,902,888 | G/A | — | uncertain significance |
| rs79496699 | 4:88,902,933 | C/A | — | likely benign |
| rs10516799 | 4:88,903,193 | C/G | intron variant | — |
| rs753015454 | 4:88,903,722 | G/A | — | uncertain significance |
| rs769393005 | 4:88,903,761 | C/T | — | uncertain significance |
| rs766686993 | 4:88,903,784 | G/A | — | likely benign |
| rs777232984 | 4:88,903,789 | A/G | — | likely benign |
| rs34076181 | 4:88,903,838 | A/G | — | benign |
| rs1126616 | 4:88,903,853 | C/T | synonymous variant | — |
| rs140081980 | 4:88,903,915 | G/A | — | likely benign |
| rs4660 | 4:88,904,005 | G/A | — | benign |
| rs372230290 | 4:88,904,031 | T/A | — | uncertain significance |
| rs1578104553 | 4:88,904,042 | C/G | — | likely benign |
| rs1126772 | 4:88,904,186 | A/G | 3 prime UTR variant | — |
| rs9138 | 4:88,904,342 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.