CKB
creatine kinase B
Summary
The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2507387653 | 14:103,986,579 | A/C | — | uncertain significance |
| rs146047573 | 14:103,986,620 | T/C | — | uncertain significance |
| rs1322309456 | 14:103,986,814 | G/C | — | uncertain significance |
| rs2075892784 | 14:103,986,824 | G/C | — | uncertain significance |
| rs377598922 | 14:103,986,829 | G/A | — | uncertain significance |
| rs1264798178 | 14:103,986,903 | A/G | — | uncertain significance |
| rs2071408 | 14:103,987,078 | G/C | — | — |
| rs1566962620 | 14:103,987,655 | G/A | — | uncertain significance |
| rs754012287 | 14:103,987,685 | C/T | — | uncertain significance |
| rs1041105054 | 14:103,987,688 | C/G | — | uncertain significance |
| rs762398805 | 14:103,988,265 | T/C | — | uncertain significance |
| rs766078386 | 14:103,988,281 | C/T | — | uncertain significance |
| rs1370684683 | 14:103,988,370 | T/C | — | uncertain significance |
| rs2075910406 | 14:103,988,745 | T/A | — | uncertain significance |
| rs748772002 | 14:103,988,788 | G/C | — | uncertain significance |
| rs1449648424 | 14:103,988,826 | G/A | — | uncertain significance |
| rs2765042 | 14:103,990,745 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.