LGMN
legumain
Summary
This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs189997608 | 14:93,170,693 | T/C | — | uncertain significance |
| rs77291096 | 14:93,170,976 | A/G | — | benign |
| rs149227402 | 14:93,171,025 | C/T | — | uncertain significance |
| rs145149674 | 14:93,171,033 | T/C | — | uncertain significance |
| rs370307281 | 14:93,172,914 | C/T | — | uncertain significance |
| rs749015121 | 14:93,172,932 | C/T | — | uncertain significance |
| rs746438674 | 14:93,172,970 | C/T | — | uncertain significance |
| rs8013557 | 14:93,173,488 | T/G | — | — |
| rs767657009 | 14:93,176,027 | C/T | — | uncertain significance |
| rs774667405 | 14:93,176,092 | C/T | — | uncertain significance |
| rs765133852 | 14:93,176,108 | A/G | — | uncertain significance |
| rs2503715163 | 14:93,176,112 | C/T | — | uncertain significance |
| rs762692980 | 14:93,176,118 | T/C | — | uncertain significance |
| rs200318849 | 14:93,176,153 | G/A | — | uncertain significance |
| rs772323057 | 14:93,176,160 | G/A | — | uncertain significance |
| rs144545825 | 14:93,178,006 | T/G | — | uncertain significance |
| rs376054031 | 14:93,178,024 | C/T | — | uncertain significance |
| rs771834504 | 14:93,178,044 | G/A | — | uncertain significance |
| rs908809060 | 14:93,178,053 | A/G | — | uncertain significance |
| rs79243037 | 14:93,178,058 | G/A | — | benign |
| rs370383475 | 14:93,178,066 | T/C | — | uncertain significance |
| rs143914416 | 14:93,178,279 | T/G | — | uncertain significance |
| rs2503736940 | 14:93,179,206 | T/C | — | uncertain significance |
| rs781595220 | 14:93,180,172 | C/T | — | likely benign |
| rs1889958829 | 14:93,180,765 | T/G | — | uncertain significance |
| rs779985081 | 14:93,182,560 | T/C | — | uncertain significance |
| rs2503760265 | 14:93,182,564 | A/C | — | uncertain significance |
| rs760405421 | 14:93,183,733 | T/C | — | uncertain significance |
| rs369016620 | 14:93,183,744 | G/A | — | likely benign |
| rs143487234 | 14:93,183,771 | T/C | — | uncertain significance |
| rs2503770227 | 14:93,183,787 | C/T | — | uncertain significance |
| rs766481771 | 14:93,185,096 | C/G | — | uncertain significance |
| rs762038466 | 14:93,185,156 | G/A | — | uncertain significance |
| rs760945330 | 14:93,185,176 | T/C | — | uncertain significance |
| rs376856417 | 14:93,199,088 | A/G | — | uncertain significance |
| rs1311402357 | 14:93,199,116 | C/A | — | uncertain significance |
| rs180901109 | 14:93,205,974 | C/T | intron variant | — |
| rs1044208812 | 14:93,208,122 | G/C | — | — |
| rs115997699 | 14:93,209,182 | T/C | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.