CRTAC1
cartilage acidic protein 1
Summary
This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs192903867 | 10:99,624,285 | C/T | downstream gene variant | — |
| rs1385105878 | 10:99,625,324 | C/G | — | uncertain significance |
| rs375513503 | 10:99,625,364 | C/T | — | uncertain significance |
| rs149369679 | 10:99,625,409 | C/T | — | likely benign |
| rs548530776 | 10:99,625,427 | C/T | — | likely benign |
| rs200286666 | 10:99,625,463 | C/T | — | uncertain significance |
| rs118097290 | 10:99,632,457 | G/A | downstream gene variant | — |
| rs531676 | 10:99,637,578 | G/A | upstream gene variant | — |
| rs140893096 | 10:99,639,342 | C/T | regulatory region variant | — |
| rs1387488973 | 10:99,640,075 | A/G | — | uncertain significance |
| rs1390128854 | 10:99,642,554 | C/A | — | uncertain significance |
| rs145015083 | 10:99,642,680 | A/C | regulatory region variant | — |
| rs780516732 | 10:99,643,998 | C/T | — | uncertain significance |
| rs148785173 | 10:99,644,000 | C/T | — | uncertain significance |
| rs995787502 | 10:99,644,019 | G/T | — | uncertain significance |
| rs1040366227 | 10:99,644,051 | C/T | — | uncertain significance |
| rs747634840 | 10:99,644,059 | C/T | — | uncertain significance |
| rs775679021 | 10:99,644,078 | G/A | — | uncertain significance |
| rs1311009385 | 10:99,644,106 | T/C | — | uncertain significance |
| rs192691413 | 10:99,646,383 | C/T | intron variant | — |
| rs2050440736 | 10:99,655,053 | C/T | — | uncertain significance |
| rs188979388 | 10:99,655,653 | G/A | — | uncertain significance |
| rs147584793 | 10:99,655,659 | C/T | — | uncertain significance |
| rs1331129173 | 10:99,655,709 | A/C | — | uncertain significance |
| rs747798625 | 10:99,655,719 | C/T | — | uncertain significance |
| rs558485684 | 10:99,655,720 | G/C | — | uncertain significance |
| rs145632263 | 10:99,655,723 | G/C | — | uncertain significance |
| rs568956581 | 10:99,656,675 | G/A | — | uncertain significance |
| rs188204113 | 10:99,659,119 | C/T | intron variant | — |
| rs531909806 | 10:99,660,236 | T/C | — | — |
| rs567498626 | 10:99,661,270 | G/A | — | uncertain significance |
| rs2541116378 | 10:99,661,305 | A/G | — | uncertain significance |
| rs763612671 | 10:99,664,536 | C/T | — | uncertain significance |
| rs144829514 | 10:99,664,544 | C/T | — | uncertain significance |
| rs1384033966 | 10:99,667,796 | G/A | — | uncertain significance |
| rs369926645 | 10:99,667,809 | G/A | — | uncertain significance |
| rs2541124274 | 10:99,667,878 | T/G | — | uncertain significance |
| rs1439243602 | 10:99,677,365 | C/T | — | uncertain significance |
| rs2050778712 | 10:99,677,395 | T/C | — | uncertain significance |
| rs148307013 | 10:99,677,404 | G/A | — | uncertain significance |
| rs143996519 | 10:99,683,093 | G/T | — | uncertain significance |
| rs147289538 | 10:99,683,113 | G/A | — | uncertain significance |
| rs371860011 | 10:99,683,121 | C/T | — | uncertain significance |
| rs140424345 | 10:99,683,122 | G/A | missense variant | — |
| rs187810664 | 10:99,695,342 | G/T | intron variant | — |
| rs202051041 | 10:99,695,969 | G/A | — | uncertain significance |
| rs144487471 | 10:99,695,972 | C/T | — | uncertain significance |
| rs775042630 | 10:99,696,020 | G/A | — | uncertain significance |
| rs867471987 | 10:99,696,026 | G/A | — | uncertain significance |
| rs143395515 | 10:99,696,059 | C/T | — | uncertain significance |
| rs579794 | 10:99,698,756 | T/C | intron variant | — |
| rs117362238 | 10:99,719,946 | G/A | intron variant | — |
| rs508001 | 10:99,754,973 | A/G | — | — |
| rs12357890 | 10:99,762,693 | A/G | intron variant | — |
| rs573011 | 10:99,769,882 | C/T | intron variant | — |
| rs2492691838 | 10:99,770,980 | A/G | — | uncertain significance |
| rs375135331 | 10:99,771,031 | G/A | — | uncertain significance |
| rs565108 | 10:99,772,190 | T/C | intron variant | — |
| rs1000117718 | 10:99,790,208 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.