MACIR
macrophage immunometabolism regulator
Summary
This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs26232 | 5:102,596,720 | C/T | regulatory region variant | — |
| rs26233 | 5:102,596,816 | G/T | regulatory region variant | — |
| rs26234 | 5:102,597,156 | G/A | intron variant | — |
| rs376286 | 5:102,599,390 | G/A | intron variant | — |
| rs434294 | 5:102,599,626 | A/G | intron variant | — |
| rs2569016 | 5:102,603,132 | A/T | — | — |
| rs187579 | 5:102,604,933 | A/G | — | — |
| rs366437 | 5:102,605,601 | T/A | — | — |
| rs2561477 | 5:102,608,924 | G/A | intron variant | — |
| rs150195375 | 5:102,611,824 | G/C | — | uncertain significance |
| rs144822898 | 5:102,611,934 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.