MICU2
mitochondrial calcium uptake 2
Summary
Enables several functions, including calcium channel regulator activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion; cellular response to calcium ion; and negative regulation of mitochondrial calcium ion concentration. Located in mitochondrial intermembrane space. Part of uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749752283 | 13:22,067,411 | G/C | — | uncertain significance |
| rs369059811 | 13:22,067,413 | T/A | — | uncertain significance |
| rs1238743538 | 13:22,067,443 | T/G | — | uncertain significance |
| rs2542367696 | 13:22,067,481 | A/C | — | likely benign |
| rs1232133441 | 13:22,069,371 | C/T | — | uncertain significance |
| rs1482238565 | 13:22,070,260 | T/C | — | uncertain significance |
| rs145503945 | 13:22,077,081 | T/A | — | likely benign |
| rs145410850 | 13:22,077,082 | T/A | — | likely benign |
| rs201863364 | 13:22,077,143 | C/A | — | uncertain significance |
| rs561267095 | 13:22,084,194 | C/T | — | likely benign |
| rs373707524 | 13:22,095,425 | T/C | — | likely benign |
| rs2542394205 | 13:22,095,446 | C/T | — | uncertain significance |
| rs779378750 | 13:22,096,772 | C/T | — | uncertain significance |
| rs12869776 | 13:22,103,294 | A/G | upstream gene variant | — |
| rs2798280 | 13:22,112,853 | T/C | intron variant | — |
| rs138571099 | 13:22,113,510 | C/T | — | uncertain significance |
| rs11616720 | 13:22,115,822 | A/T | — | — |
| rs11840168 | 13:22,118,302 | A/T | — | — |
| rs2798269 | 13:22,131,897 | C/T | intron variant | — |
| rs1349302554 | 13:22,140,959 | G/A | — | uncertain significance |
| rs761526718 | 13:22,141,021 | C/A | — | uncertain significance |
| rs555042099 | 13:22,141,037 | C/T | — | uncertain significance |
| rs778474100 | 13:22,141,055 | A/G | — | uncertain significance |
| rs771524116 | 13:22,141,058 | T/C | — | uncertain significance |
| rs201389309 | 13:22,178,086 | A/C | — | uncertain significance |
| rs1434702413 | 13:22,178,109 | G/A | — | uncertain significance |
| rs184451007 | 13:22,178,125 | G/A | — | uncertain significance |
| rs750756192 | 13:22,178,148 | G/C | — | uncertain significance |
| rs139931343 | 13:22,178,149 | C/G | — | likely benign |
| rs769857288 | 13:22,178,191 | C/T | — | uncertain significance |
| rs1888900224 | 13:22,178,227 | C/G | — | uncertain significance |
| rs1888901448 | 13:22,178,246 | C/T | — | uncertain significance |
| rs1372378562 | 13:22,178,257 | C/A | — | likely benign |
| rs764279665 | 13:22,178,276 | A/G | — | likely benign |
| rs926696881 | 13:22,178,283 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.