CKAP5
cytoskeleton associated protein 5
Summary
This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Known Variants79 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs774943816 | 11:46,765,649 | A/C | — | uncertain significance |
| rs147465744 | 11:46,765,799 | G/C | — | uncertain significance |
| rs138130331 | 11:46,766,091 | G/A | missense variant | — |
| rs565252536 | 11:46,766,098 | C/T | — | uncertain significance |
| rs2065053874 | 11:46,771,857 | T/C | — | uncertain significance |
| rs753596389 | 11:46,771,875 | G/A | — | uncertain significance |
| rs2502883501 | 11:46,771,928 | G/T | — | uncertain significance |
| rs1439390069 | 11:46,772,086 | T/G | — | uncertain significance |
| rs1333431017 | 11:46,772,769 | C/T | — | uncertain significance |
| rs111277483 | 11:46,772,770 | G/A | — | likely benign |
| rs549527156 | 11:46,772,788 | C/T | — | likely benign |
| rs774998766 | 11:46,772,980 | C/G | — | uncertain significance |
| rs112274106 | 11:46,773,063 | G/A | — | likely benign |
| rs199682850 | 11:46,774,226 | C/T | — | uncertain significance |
| rs1168626516 | 11:46,774,233 | G/T | — | uncertain significance |
| rs2502894925 | 11:46,775,005 | C/T | — | uncertain significance |
| rs1256072548 | 11:46,776,474 | G/C | — | uncertain significance |
| rs776008790 | 11:46,776,578 | T/C | — | uncertain significance |
| rs561519398 | 11:46,780,490 | T/C | — | uncertain significance |
| rs759656247 | 11:46,780,568 | C/T | — | uncertain significance |
| rs373102707 | 11:46,780,588 | C/T | — | uncertain significance |
| rs1443670740 | 11:46,780,894 | A/G | — | uncertain significance |
| rs1174603316 | 11:46,780,984 | C/A | — | uncertain significance |
| rs2502915974 | 11:46,782,259 | T/C | — | uncertain significance |
| rs200117152 | 11:46,782,262 | T/C | — | likely benign |
| rs2134588728 | 11:46,782,265 | G/A | — | uncertain significance |
| rs528222087 | 11:46,782,270 | G/A | — | uncertain significance |
| rs2502919639 | 11:46,783,603 | T/C | — | uncertain significance |
| rs770821514 | 11:46,784,569 | G/C | — | uncertain significance |
| rs369273731 | 11:46,785,065 | T/A | — | uncertain significance |
| rs765998587 | 11:46,786,759 | A/C | — | uncertain significance |
| rs4534535 | 11:46,788,691 | C/T | upstream gene variant | — |
| rs780295100 | 11:46,789,153 | T/C | — | uncertain significance |
| rs2502934209 | 11:46,789,157 | C/T | — | uncertain significance |
| rs535440345 | 11:46,789,198 | C/T | — | uncertain significance |
| rs758307549 | 11:46,791,540 | C/T | — | uncertain significance |
| rs146251898 | 11:46,791,604 | T/C | — | likely benign |
| rs900936993 | 11:46,792,348 | C/T | — | uncertain significance |
| rs144101441 | 11:46,792,501 | G/A | — | uncertain significance |
| rs112595943 | 11:46,797,844 | A/G | — | likely benign |
| rs139594049 | 11:46,797,891 | C/T | — | uncertain significance |
| rs775804621 | 11:46,799,030 | T/G | — | uncertain significance |
| rs199835668 | 11:46,799,714 | C/T | — | uncertain significance |
| rs368952412 | 11:46,799,750 | G/A | — | uncertain significance |
| rs768861815 | 11:46,799,754 | G/T | — | uncertain significance |
| rs774379053 | 11:46,799,786 | A/G | — | uncertain significance |
| rs765442145 | 11:46,799,859 | T/C | — | uncertain significance |
| rs796365632 | 11:46,800,038 | C/T | — | uncertain significance |
| rs111622030 | 11:46,800,046 | T/C | — | uncertain significance |
| rs750054410 | 11:46,801,762 | T/C | — | uncertain significance |
| rs769587227 | 11:46,801,836 | C/T | — | uncertain significance |
| rs143256169 | 11:46,801,859 | G/A | — | uncertain significance |
| rs138802210 | 11:46,804,846 | T/C | — | uncertain significance |
| rs2502968207 | 11:46,804,869 | G/C | — | uncertain significance |
| rs7941964 | 11:46,805,575 | G/T | — | — |
| rs573369406 | 11:46,806,190 | T/C | — | uncertain significance |
| rs1221553326 | 11:46,812,066 | T/C | — | uncertain significance |
| rs1565739639 | 11:46,817,169 | G/A | — | uncertain significance |
| rs1384405221 | 11:46,817,182 | G/C | — | uncertain significance |
| rs1273429719 | 11:46,818,372 | T/C | — | uncertain significance |
| rs773710114 | 11:46,818,475 | C/T | — | uncertain significance |
| rs760175816 | 11:46,819,402 | T/C | — | uncertain significance |
| rs758130758 | 11:46,819,446 | G/A | — | uncertain significance |
| rs201848818 | 11:46,819,644 | T/C | — | uncertain significance |
| rs374699226 | 11:46,819,694 | T/C | — | uncertain significance |
| rs751902315 | 11:46,822,799 | G/T | — | uncertain significance |
| rs200668108 | 11:46,831,050 | C/T | — | uncertain significance |
| rs193921076 | 11:46,831,334 | T/C | — | uncertain significance |
| rs777042989 | 11:46,831,363 | A/C | — | uncertain significance |
| rs201062200 | 11:46,832,684 | A/G | — | uncertain significance |
| rs150881731 | 11:46,837,752 | A/G | — | uncertain significance |
| rs754344128 | 11:46,837,782 | A/T | — | uncertain significance |
| rs78408136 | 11:46,837,837 | C/T | — | uncertain significance |
| rs765777008 | 11:46,837,879 | T/C | — | uncertain significance |
| rs200414400 | 11:46,837,932 | C/A | — | uncertain significance |
| rs189862554 | 11:46,847,808 | A/T | regulatory region variant | — |
| rs1007738 | 11:46,849,360 | G/A | intron variant | — |
| rs1421155854 | 11:46,852,477 | A/T | — | — |
| rs10838622 | 11:46,856,536 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.