MASP2
MBL associated serine protease 2
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Known Variants138 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs771262318 | 1:11,086,631 | A/G | — | uncertain significance |
| rs375230404 | 1:11,086,660 | G/T | — | uncertain significance |
| rs1643737115 | 1:11,086,722 | T/C | — | uncertain significance |
| rs775881603 | 1:11,086,723 | G/A | — | uncertain significance |
| rs987591296 | 1:11,086,730 | T/C | — | uncertain significance |
| rs116311214 | 1:11,086,753 | C/T | — | uncertain significance |
| rs183998926 | 1:11,086,771 | T/G | — | uncertain significance |
| rs886045052 | 1:11,086,831 | G/A | — | uncertain significance |
| rs1011130298 | 1:11,086,878 | G/A | — | uncertain significance |
| rs141174563 | 1:11,086,950 | C/T | — | likely benign |
| rs1289010289 | 1:11,086,992 | T/G | — | uncertain significance |
| rs1643743988 | 1:11,087,031 | T/C | — | uncertain significance |
| rs148865407 | 1:11,087,056 | C/A | — | likely benign |
| rs2521378638 | 1:11,087,057 | A/G | — | uncertain significance |
| rs767167770 | 1:11,087,080 | A/C | — | uncertain significance |
| rs138934492 | 1:11,087,100 | C/T | — | uncertain significance |
| rs1236065829 | 1:11,087,117 | C/G | — | uncertain significance |
| rs891626213 | 1:11,087,139 | C/T | — | uncertain significance |
| rs748118548 | 1:11,087,146 | A/C | — | likely benign |
| rs764932450 | 1:11,087,150 | C/G | — | uncertain significance |
| rs763183867 | 1:11,087,176 | C/T | — | likely benign |
| rs768079326 | 1:11,087,205 | C/T | — | uncertain significance |
| rs780106983 | 1:11,087,223 | C/G | — | uncertain significance |
| rs754681880 | 1:11,087,230 | C/T | — | likely benign |
| rs144471433 | 1:11,087,272 | T/G | — | likely benign |
| rs202214079 | 1:11,087,276 | G/A | — | uncertain significance |
| rs145092859 | 1:11,087,284 | C/G | — | uncertain significance |
| rs151221694 | 1:11,087,301 | C/G | — | uncertain significance |
| rs766503914 | 1:11,087,314 | C/T | — | likely benign |
| rs570098833 | 1:11,087,356 | C/T | — | likely benign |
| rs137957386 | 1:11,087,358 | T/C | missense variant | — |
| rs886045053 | 1:11,087,413 | G/A | — | uncertain significance |
| rs757211226 | 1:11,087,421 | C/T | — | uncertain significance |
| rs745359886 | 1:11,087,429 | T/C | — | uncertain significance |
| rs751423730 | 1:11,087,489 | A/G | — | uncertain significance |
| rs757050153 | 1:11,087,529 | C/T | — | uncertain significance |
| rs750359413 | 1:11,087,533 | A/C | — | uncertain significance |
| rs1643757459 | 1:11,087,535 | G/A | — | uncertain significance |
| rs781121308 | 1:11,087,550 | C/T | — | likely benign |
| rs1203416510 | 1:11,087,592 | C/T | — | uncertain significance |
| rs150524896 | 1:11,087,612 | C/T | — | uncertain significance |
| rs571956287 | 1:11,087,672 | C/T | — | uncertain significance |
| rs12085877 | 1:11,087,687 | C/T | — | likely benign |
| rs768647402 | 1:11,087,688 | G/A | — | uncertain significance |
| rs199953319 | 1:11,087,689 | G/A | — | uncertain significance |
| rs572449800 | 1:11,087,694 | A/G | — | uncertain significance |
| rs201988936 | 1:11,090,274 | G/A | — | uncertain significance |
| rs61735593 | 1:11,090,287 | C/T | — | conflicting classifications of pathogenicity |
| rs367583731 | 1:11,090,299 | C/T | — | uncertain significance |
| rs61735594 | 1:11,090,814 | C/T | — | uncertain significance |
| rs1643830230 | 1:11,090,828 | A/C | — | uncertain significance |
| rs1643830509 | 1:11,090,836 | T/G | — | uncertain significance |
| rs185903926 | 1:11,090,840 | C/T | — | uncertain significance |
| rs143981111 | 1:11,090,885 | G/A | — | uncertain significance |
| rs763458719 | 1:11,090,889 | T/G | — | uncertain significance |
| rs2273346 | 1:11,090,897 | A/G | — | likely benign |
| rs1051250399 | 1:11,090,900 | C/T | — | likely benign |
| rs368813258 | 1:11,090,901 | G/A | — | likely pathogenic |
| rs12711521 | 1:11,090,916 | C/A | missense variant | benign |
| rs9430176 | 1:11,091,031 | G/A | downstream gene variant | — |
| rs1557669900 | 1:11,094,887 | C/T | — | uncertain significance |
| rs774776055 | 1:11,094,892 | C/T | — | uncertain significance |
| rs200844905 | 1:11,094,894 | C/T | — | uncertain significance |
| rs61735596 | 1:11,094,908 | T/A | — | conflicting classifications of pathogenicity |
| rs763553281 | 1:11,097,754 | A/G | — | uncertain significance |
| rs771074354 | 1:11,097,791 | T/G | — | uncertain significance |
| rs72550866 | 1:11,097,827 | C/T | — | conflicting classifications of pathogenicity |
| rs1269801563 | 1:11,097,863 | G/A | — | uncertain significance |
| rs12142107 | 1:11,097,867 | C/T | — | benign |
| rs370918294 | 1:11,097,869 | C/T | — | uncertain significance |
| rs12136468 | 1:11,099,788 | G/T | — | — |
| rs61773665 | 1:11,101,413 | G/A | intron variant | — |
| rs61735598 | 1:11,102,939 | C/T | — | benign |
| rs139962539 | 1:11,102,940 | G/A | — | likely benign |
| rs2521495257 | 1:11,102,945 | G/C | — | uncertain significance |
| rs149800848 | 1:11,102,993 | G/C | — | uncertain significance |
| rs886045054 | 1:11,103,013 | T/G | — | uncertain significance |
| rs1638507320 | 1:11,103,054 | C/T | — | uncertain significance |
| rs201703577 | 1:11,103,091 | G/A | — | likely benign |
| rs368040764 | 1:11,103,395 | C/A | — | conflicting classifications of pathogenicity |
| rs7536030 | 1:11,103,408 | G/A | — | benign |
| rs1249592319 | 1:11,103,419 | G/T | — | uncertain significance |
| rs756947952 | 1:11,103,476 | A/G | — | uncertain significance |
| rs748760302 | 1:11,103,511 | G/A | — | uncertain significance |
| rs771680406 | 1:11,103,521 | G/T | — | uncertain significance |
| rs72550853 | 1:11,103,525 | C/A | — | uncertain significance |
| rs78775425 | 1:11,103,582 | G/A | — | benign |
| rs1553161980 | 1:11,103,586 | C/T | — | not provided |
| rs9430347 | 1:11,104,845 | T/G | — | — |
| rs746088355 | 1:11,105,476 | C/T | — | likely benign |
| rs1432247315 | 1:11,105,501 | C/T | — | uncertain significance |
| rs201972294 | 1:11,105,502 | T/C | — | uncertain significance |
| rs778384259 | 1:11,105,506 | C/T | — | uncertain significance |
| rs144247267 | 1:11,105,539 | T/C | — | likely benign |
| rs41307788 | 1:11,105,542 | C/T | — | conflicting classifications of pathogenicity |
| rs2273343 | 1:11,105,545 | T/C | — | benign |
| rs761179644 | 1:11,105,563 | G/A | — | uncertain significance |
| rs1411989082 | 1:11,105,572 | G/A | — | uncertain significance |
| rs2521519254 | 1:11,105,578 | A/G | — | uncertain significance |
| rs760062530 | 1:11,105,589 | G/A | — | uncertain significance |
Showing 100 of 138 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.