MREG
melanoregulin
Summary
Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in melanocyte differentiation; melanosome transport; and phagosome maturation. Predicted to act upstream of or within developmental pigmentation. Predicted to be located in late endosome membrane and melanosome membrane. Predicted to be part of protein-containing complex. Predicted to be active in melanosome. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs543536857 | 2:216,809,668 | C/T | — | likely benign |
| rs202147771 | 2:216,809,685 | G/C | — | uncertain significance |
| rs776237177 | 2:216,809,717 | G/A | — | uncertain significance |
| rs749598732 | 2:216,810,311 | T/C | — | uncertain significance |
| rs1306153952 | 2:216,810,385 | C/T | — | uncertain significance |
| rs751518395 | 2:216,810,388 | G/T | — | uncertain significance |
| rs368431426 | 2:216,810,433 | A/G | — | uncertain significance |
| rs1385499942 | 2:216,811,778 | C/G | — | uncertain significance |
| rs753332220 | 2:216,811,799 | C/T | — | uncertain significance |
| rs3770549 | 2:216,860,550 | A/C | — | — |
| rs375708280 | 2:216,861,039 | T/C | — | uncertain significance |
| rs141433096 | 2:216,861,055 | G/A | — | uncertain significance |
| rs370069855 | 2:216,861,072 | T/C | — | uncertain significance |
| rs373470737 | 2:216,861,075 | A/G | — | uncertain significance |
| rs750962379 | 2:216,861,100 | T/C | — | uncertain significance |
| rs1018213764 | 2:216,878,020 | A/G | — | uncertain significance |
| rs2372683 | 2:216,884,748 | G/A | — | — |
| rs1344694 | 2:216,893,637 | T/A | — | — |
| rs7590720 | 2:216,898,658 | G/T | — | — |
| rs10178909 | 2:216,900,528 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.