ERAP2
endoplasmic reticulum aminopeptidase 2
Summary
This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75862629 | 5:96,211,259 | A/G | — | benign |
| rs372831043 | 5:96,215,405 | G/A | — | uncertain significance |
| rs770183419 | 5:96,215,472 | T/C | — | uncertain significance |
| rs769082342 | 5:96,215,478 | C/A | — | uncertain significance |
| rs144285538 | 5:96,215,503 | C/G | — | uncertain significance |
| rs1442041077 | 5:96,215,517 | G/C | — | uncertain significance |
| rs375600819 | 5:96,215,565 | G/T | — | uncertain significance |
| rs199924315 | 5:96,215,574 | T/A | — | likely benign |
| rs1186483311 | 5:96,215,681 | G/A | — | uncertain significance |
| rs571158626 | 5:96,215,718 | T/C | — | uncertain significance |
| rs73150323 | 5:96,219,534 | G/A | — | uncertain significance |
| rs79422968 | 5:96,219,557 | G/T | — | uncertain significance |
| rs757064973 | 5:96,219,565 | G/C | — | uncertain significance |
| rs80193285 | 5:96,222,360 | T/C | — | benign |
| rs769023253 | 5:96,222,413 | G/A | — | uncertain significance |
| rs138644698 | 5:96,222,479 | T/G | — | uncertain significance |
| rs746468188 | 5:96,224,897 | C/G | — | uncertain significance |
| rs776167404 | 5:96,224,916 | C/T | — | likely benign |
| rs113033185 | 5:96,224,923 | A/T | — | uncertain significance |
| rs946685163 | 5:96,224,948 | A/G | — | likely benign |
| rs2534131556 | 5:96,231,001 | G/A | — | uncertain significance |
| rs34261036 | 5:96,231,056 | T/G | — | likely benign |
| rs148344927 | 5:96,232,099 | G/A | — | benign |
| rs147105600 | 5:96,232,125 | T/C | — | benign |
| rs899895372 | 5:96,232,156 | C/T | — | uncertain significance |
| rs1473069081 | 5:96,232,493 | G/C | — | uncertain significance |
| rs376575375 | 5:96,232,533 | C/A | — | uncertain significance |
| rs773050594 | 5:96,232,537 | G/T | — | uncertain significance |
| rs762878112 | 5:96,232,538 | A/T | — | uncertain significance |
| rs1784908130 | 5:96,232,550 | T/C | — | uncertain significance |
| rs1256252147 | 5:96,237,248 | G/C | — | uncertain significance |
| rs753590582 | 5:96,237,250 | T/G | — | uncertain significance |
| rs267600745 | 5:96,237,279 | C/T | — | uncertain significance |
| rs892411033 | 5:96,237,292 | T/A | — | uncertain significance |
| rs146257614 | 5:96,237,305 | G/A | — | likely benign |
| rs754548079 | 5:96,239,137 | G/A | — | uncertain significance |
| rs2534198431 | 5:96,239,156 | A/G | — | uncertain significance |
| rs1243245603 | 5:96,239,209 | C/A | — | uncertain significance |
| rs754839003 | 5:96,244,766 | C/T | — | likely benign |
| rs373745801 | 5:96,244,805 | T/C | — | uncertain significance |
| rs371004093 | 5:96,245,321 | G/A | — | uncertain significance |
| rs376256256 | 5:96,245,369 | C/T | — | uncertain significance |
| rs2534242216 | 5:96,245,398 | A/G | — | uncertain significance |
| rs2534242520 | 5:96,245,431 | C/A | — | uncertain significance |
| rs754160876 | 5:96,245,455 | A/G | — | uncertain significance |
| rs1430819262 | 5:96,245,456 | G/C | — | uncertain significance |
| rs144251459 | 5:96,248,417 | C/G | — | uncertain significance |
| rs1316183926 | 5:96,248,423 | G/A | — | uncertain significance |
| rs780497238 | 5:96,249,076 | C/G | — | uncertain significance |
| rs145600606 | 5:96,249,086 | C/T | — | uncertain significance |
| rs746980048 | 5:96,249,098 | G/A | — | uncertain significance |
| rs182324439 | 5:96,251,428 | C/T | — | benign |
| rs1054486413 | 5:96,251,441 | G/A | — | uncertain significance |
| rs142659150 | 5:96,251,469 | A/G | — | uncertain significance |
| rs750022057 | 5:96,253,223 | A/C | — | uncertain significance |
| rs963813022 | 5:96,253,299 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.