MBL2
mannose binding lectin 2
Summary
This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein encoded belongs to the collectin family and is an important element in the innate immune system. The protein recognizes and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]
Known Variants113 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs758996436 | 10:54,525,146 | T/G | — | uncertain significance |
| rs138449358 | 10:54,525,170 | C/A | — | uncertain significance |
| rs114932753 | 10:54,525,195 | C/T | — | uncertain significance |
| rs183826308 | 10:54,525,249 | G/T | — | uncertain significance |
| rs55855374 | 10:54,525,420 | G/A | — | uncertain significance |
| rs886047043 | 10:54,525,427 | T/G | — | uncertain significance |
| rs1263739066 | 10:54,525,440 | C/G | — | uncertain significance |
| rs56325023 | 10:54,525,447 | T/A | — | conflicting classifications of pathogenicity |
| rs2506 | 10:54,525,509 | C/A | — | likely benign |
| rs2083771 | 10:54,525,678 | T/G | — | likely benign |
| rs747317698 | 10:54,525,688 | A/G | — | uncertain significance |
| rs191761980 | 10:54,525,690 | C/T | — | uncertain significance |
| rs1382426241 | 10:54,525,768 | A/G | — | uncertain significance |
| rs542103508 | 10:54,525,830 | G/A | — | uncertain significance |
| rs886047044 | 10:54,525,831 | C/A | — | uncertain significance |
| rs2099902 | 10:54,525,849 | T/C | 3 prime UTR variant | likely benign |
| rs2099903 | 10:54,525,857 | C/A | 3 prime UTR variant | likely benign |
| rs544901610 | 10:54,525,864 | C/T | — | uncertain significance |
| rs977172176 | 10:54,525,865 | G/A | — | uncertain significance |
| rs2165813 | 10:54,525,984 | G/A | 3 prime UTR variant | likely benign |
| rs2120131 | 10:54,526,018 | T/G | 3 prime UTR variant | likely benign |
| rs2120132 | 10:54,526,040 | T/C | 3 prime UTR variant | likely benign |
| rs1203114895 | 10:54,526,058 | T/C | — | uncertain significance |
| rs774307463 | 10:54,526,078 | A/G | — | uncertain significance |
| rs529374068 | 10:54,526,154 | A/G | — | uncertain significance |
| rs12254557 | 10:54,526,186 | A/C | — | uncertain significance |
| rs35768126 | 10:54,526,202 | C/A | — | conflicting classifications of pathogenicity |
| rs35327474 | 10:54,526,203 | C/A | — | conflicting classifications of pathogenicity |
| rs10824792 | 10:54,526,206 | C/T | 3 prime UTR variant | likely benign |
| rs754268753 | 10:54,526,328 | T/C | — | uncertain significance |
| rs886047045 | 10:54,526,329 | G/A | — | uncertain significance |
| rs56009657 | 10:54,526,399 | G/A | — | uncertain significance |
| rs186828712 | 10:54,526,445 | T/A | — | uncertain significance |
| rs1403377181 | 10:54,526,449 | G/A | — | uncertain significance |
| rs577771508 | 10:54,526,468 | T/G | — | uncertain significance |
| rs551861672 | 10:54,526,610 | G/A | — | uncertain significance |
| rs10082466 | 10:54,526,622 | A/G | — | likely benign |
| rs1840312785 | 10:54,526,645 | T/G | — | uncertain significance |
| rs1840313554 | 10:54,526,684 | G/A | — | uncertain significance |
| rs886047046 | 10:54,526,753 | T/C | — | uncertain significance |
| rs115639140 | 10:54,526,761 | T/C | — | uncertain significance |
| rs11595876 | 10:54,526,762 | C/T | — | uncertain significance |
| rs11003121 | 10:54,526,763 | G/A | — | uncertain significance |
| rs56095345 | 10:54,526,809 | G/A | — | uncertain significance |
| rs1336069649 | 10:54,526,931 | T/C | — | uncertain significance |
| rs886047047 | 10:54,526,944 | A/G | — | uncertain significance |
| rs886047048 | 10:54,526,960 | T/C | — | uncertain significance |
| rs55714260 | 10:54,527,032 | G/T | — | uncertain significance |
| rs567802378 | 10:54,527,114 | G/A | — | uncertain significance |
| rs558872633 | 10:54,527,189 | C/T | — | uncertain significance |
| rs56213573 | 10:54,527,222 | G/A | — | uncertain significance |
| rs886047049 | 10:54,527,223 | T/C | — | uncertain significance |
| rs374583038 | 10:54,527,450 | C/G | — | uncertain significance |
| rs1840327961 | 10:54,527,531 | C/T | — | uncertain significance |
| rs551192639 | 10:54,527,573 | G/A | — | uncertain significance |
| rs886047050 | 10:54,527,608 | G/A | — | uncertain significance |
| rs886047051 | 10:54,527,615 | T/C | — | uncertain significance |
| rs553395892 | 10:54,527,798 | A/C | — | uncertain significance |
| rs777309633 | 10:54,527,890 | T/C | — | uncertain significance |
| rs371397104 | 10:54,527,894 | C/A | — | uncertain significance |
| rs776003487 | 10:54,527,911 | C/T | — | uncertain significance |
| rs185230071 | 10:54,527,917 | C/T | — | uncertain significance |
| rs139905034 | 10:54,527,918 | G/T | — | likely benign |
| rs1356236767 | 10:54,527,941 | G/T | — | uncertain significance |
| rs780449116 | 10:54,527,988 | T/A | — | uncertain significance |
| rs74754826 | 10:54,528,016 | C/A | — | conflicting classifications of pathogenicity |
| rs756763361 | 10:54,528,064 | G/T | — | uncertain significance |
| rs1318031019 | 10:54,528,088 | T/G | — | uncertain significance |
| rs1840337967 | 10:54,528,095 | G/A | — | uncertain significance |
| rs781484489 | 10:54,528,100 | C/G | — | uncertain significance |
| rs8191996 | 10:54,528,117 | T/C | — | conflicting classifications of pathogenicity |
| rs773253821 | 10:54,528,126 | G/T | — | uncertain significance |
| rs200749792 | 10:54,528,154 | T/G | — | uncertain significance |
| rs760332285 | 10:54,528,161 | A/G | — | uncertain significance |
| rs146554537 | 10:54,528,194 | T/C | — | uncertain significance |
| rs149216902 | 10:54,528,195 | T/G | — | uncertain significance |
| rs35805975 | 10:54,528,236 | A/G | — | uncertain significance |
| rs930507 | 10:54,528,266 | C/G | — | likely benign |
| rs930509 | 10:54,528,353 | C/G | regulatory region variant | — |
| rs35260458 | 10:54,529,259 | C/A | — | — |
| rs4935047 | 10:54,530,067 | A/G | regulatory region variant | — |
| rs55902142 | 10:54,530,431 | C/T | — | uncertain significance |
| rs143562102 | 10:54,530,432 | G/A | — | uncertain significance |
| rs757152192 | 10:54,530,485 | C/A | — | uncertain significance |
| rs768298037 | 10:54,530,508 | A/G | — | likely benign |
| rs773731975 | 10:54,530,522 | C/G | — | uncertain significance |
| rs201305883 | 10:54,530,540 | C/G | — | uncertain significance |
| rs1840389903 | 10:54,531,200 | A/G | — | uncertain significance |
| rs368802583 | 10:54,531,201 | A/G | — | likely benign |
| rs192251459 | 10:54,531,204 | C/T | — | likely benign |
| rs1800451 | 10:54,531,226 | C/T | missense variant | likely benign |
| rs886047052 | 10:54,531,230 | T/C | — | uncertain significance |
| rs886047053 | 10:54,531,233 | T/C | — | conflicting classifications of pathogenicity |
| rs1800450 | 10:54,531,235 | C/T | missense variant | pathogenic |
| rs5030737 | 10:54,531,242 | G/A | missense variant | pathogenic |
| rs1342494768 | 10:54,531,263 | C/T | — | uncertain significance |
| rs34120190 | 10:54,531,264 | G/A | — | conflicting classifications of pathogenicity |
| rs148483303 | 10:54,531,278 | A/C | — | likely benign |
| rs201511397 | 10:54,531,287 | C/A | — | uncertain significance |
| rs1245655310 | 10:54,531,295 | G/T | — | uncertain significance |
Showing 100 of 113 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.