CALD1
caldesmon 1
Summary
This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12674268 | 7:134,441,060 | C/G | — | — |
| rs17169635 | 7:134,490,462 | C/A | — | — |
| rs142583902 | 7:134,552,504 | G/A | — | uncertain significance |
| rs2290358 | 7:134,555,658 | G/A | regulatory region variant | — |
| rs11536603 | 7:134,592,588 | G/T | — | — |
| rs4472440 | 7:134,593,511 | C/A | — | — |
| rs775144649 | 7:134,613,635 | G/A | — | uncertain significance |
| rs147912516 | 7:134,617,749 | G/A | — | benign |
| rs143639360 | 7:134,617,816 | G/A | — | uncertain significance |
| rs754416783 | 7:134,617,879 | A/C | — | uncertain significance |
| rs140355865 | 7:134,617,884 | G/A | — | likely benign |
| rs1805664243 | 7:134,617,899 | G/A | — | uncertain significance |
| rs1805665886 | 7:134,617,914 | C/T | — | uncertain significance |
| rs75358773 | 7:134,617,927 | G/A | — | benign |
| rs569979265 | 7:134,617,968 | G/A | — | uncertain significance |
| rs61755271 | 7:134,617,996 | G/A | — | uncertain significance |
| rs114442219 | 7:134,618,032 | C/T | — | benign |
| rs558099957 | 7:134,618,053 | G/C | — | uncertain significance |
| rs755011509 | 7:134,618,113 | C/G | — | uncertain significance |
| rs1805702632 | 7:134,618,253 | G/C | — | uncertain significance |
| rs140413545 | 7:134,618,291 | G/A | — | likely benign |
| rs1193538291 | 7:134,618,365 | C/T | — | uncertain significance |
| rs148403238 | 7:134,618,379 | A/C | — | uncertain significance |
| rs781302656 | 7:134,618,383 | T/C | — | uncertain significance |
| rs117593246 | 7:134,618,471 | G/A | — | benign |
| rs140903770 | 7:134,618,491 | C/A | — | benign |
| rs147935316 | 7:134,618,557 | A/G | — | uncertain significance |
| rs529198474 | 7:134,618,600 | A/G | — | likely benign |
| rs764898963 | 7:134,618,637 | G/A | — | uncertain significance |
| rs187878127 | 7:134,618,673 | G/A | — | uncertain significance |
| rs201196898 | 7:134,618,737 | G/C | — | uncertain significance |
| rs376074647 | 7:134,618,814 | G/T | — | uncertain significance |
| rs759894543 | 7:134,620,480 | G/C | — | uncertain significance |
| rs1435780512 | 7:134,625,847 | A/G | — | uncertain significance |
| rs2536247142 | 7:134,625,856 | A/C | — | uncertain significance |
| rs144741094 | 7:134,625,880 | A/G | — | uncertain significance |
| rs1216070578 | 7:134,625,886 | A/T | — | uncertain significance |
| rs2536248345 | 7:134,625,922 | C/T | — | uncertain significance |
| rs749583871 | 7:134,625,987 | A/C | — | uncertain significance |
| rs746745691 | 7:134,632,267 | G/A | — | uncertain significance |
| rs766829570 | 7:134,632,345 | G/A | — | uncertain significance |
| rs141179317 | 7:134,632,411 | C/T | — | likely benign |
| rs902374213 | 7:134,635,168 | C/G | — | uncertain significance |
| rs61755270 | 7:134,642,975 | G/A | — | likely benign |
| rs112633425 | 7:134,642,991 | A/G | — | benign |
| rs762826958 | 7:134,644,756 | C/A | — | uncertain significance |
| rs760177225 | 7:134,645,369 | C/T | — | uncertain significance |
| rs1391884378 | 7:134,650,081 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.