COLEC11
collectin subfamily member 11
Summary
This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Known Variants90 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3820897 | 2:3,642,361 | T/C | regulatory region variant | — |
| rs77246730 | 2:3,642,756 | C/T | splice region variant | — |
| rs73910596 | 2:3,647,355 | C/G | upstream gene variant | — |
| rs7588285 | 2:3,648,186 | C/T | — | — |
| rs786205631 | 2:3,651,204 | G/C | coding sequence variant | uncertain significance |
| rs561328335 | 2:3,651,226 | G/A | — | likely benign |
| rs201886374 | 2:3,651,235 | G/A | — | likely benign |
| rs899568387 | 2:3,651,259 | C/T | — | likely benign |
| rs765090666 | 2:3,651,260 | G/A | — | likely benign |
| rs200557360 | 2:3,651,900 | T/C | — | likely benign |
| rs1299334460 | 2:3,651,940 | A/C | — | uncertain significance |
| rs1330574701 | 2:3,651,941 | A/G | — | uncertain significance |
| rs113269917 | 2:3,651,953 | T/C | — | likely benign |
| rs779142171 | 2:3,651,956 | G/T | — | uncertain significance |
| rs147362981 | 2:3,651,958 | G/T | — | uncertain significance |
| rs756726291 | 2:3,652,024 | G/A | — | uncertain significance |
| rs758745859 | 2:3,652,041 | C/T | — | likely benign |
| rs139738651 | 2:3,652,044 | C/T | — | uncertain significance |
| rs1466593948 | 2:3,652,066 | C/T | — | likely benign |
| rs1263849190 | 2:3,652,075 | G/A | — | likely benign |
| rs2528258846 | 2:3,653,776 | T/C | — | likely benign |
| rs113532503 | 2:3,653,800 | A/T | — | uncertain significance |
| rs3739147 | 2:3,653,844 | C/T | — | benign |
| rs762314098 | 2:3,660,898 | C/T | — | uncertain significance |
| rs767854958 | 2:3,660,907 | C/T | — | uncertain significance |
| rs1301474044 | 2:3,660,932 | C/T | — | likely benign |
| rs62107197 | 2:3,660,935 | C/T | — | likely benign |
| rs148207876 | 2:3,660,939 | C/T | — | likely benign |
| rs2528302633 | 2:3,660,942 | C/G | — | uncertain significance |
| rs142369741 | 2:3,660,961 | C/T | — | likely benign |
| rs773910508 | 2:3,660,982 | G/A | — | likely benign |
| rs113078399 | 2:3,660,991 | C/T | — | benign |
| rs137940027 | 2:3,673,636 | C/T | — | likely benign |
| rs10170348 | 2:3,673,648 | G/A | — | benign |
| rs7602243 | 2:3,677,777 | A/G | intron variant | — |
| rs72769349 | 2:3,684,879 | A/G | intron variant | — |
| rs748696705 | 2:3,685,144 | A/G | — | uncertain significance |
| rs778329349 | 2:3,685,159 | G/C | — | uncertain significance |
| rs139694918 | 2:3,685,162 | G/A | — | likely benign |
| rs34347618 | 2:3,685,163 | T/C | — | benign |
| rs17017791 | 2:3,685,175 | T/C | — | benign |
| rs13409985 | 2:3,686,436 | T/C | intron variant | — |
| rs11123568 | 2:3,686,594 | A/G | intron variant | — |
| rs2528465394 | 2:3,687,877 | G/T | — | uncertain significance |
| rs374138625 | 2:3,687,884 | C/T | — | likely benign |
| rs773032227 | 2:3,687,900 | C/T | — | uncertain significance |
| rs2528465858 | 2:3,687,921 | G/T | — | uncertain significance |
| rs369701971 | 2:3,691,015 | G/A | — | likely benign |
| rs1292599300 | 2:3,691,028 | C/T | — | likely benign |
| rs370178695 | 2:3,691,030 | G/T | — | likely benign |
| rs938878927 | 2:3,691,038 | C/T | — | likely benign |
| rs544069491 | 2:3,691,050 | C/T | — | likely benign |
| rs34351135 | 2:3,691,065 | G/A | — | benign |
| rs34436491 | 2:3,691,071 | C/T | — | benign |
| rs2528488100 | 2:3,691,073 | G/A | — | uncertain significance |
| rs374049075 | 2:3,691,142 | C/T | — | likely benign |
| rs376182050 | 2:3,691,145 | C/T | — | benign |
| rs780148541 | 2:3,691,149 | G/A | — | likely benign |
| rs757428964 | 2:3,691,301 | C/T | — | likely benign |
| rs766366668 | 2:3,691,308 | A/G | — | benign |
| rs755830142 | 2:3,691,321 | C/T | — | likely benign |
| rs141691492 | 2:3,691,324 | C/T | — | benign |
| rs748736842 | 2:3,691,325 | G/A | — | uncertain significance |
| rs767118530 | 2:3,691,326 | G/T | — | uncertain significance |
| rs746438566 | 2:3,691,332 | G/A | — | uncertain significance |
| rs896580554 | 2:3,691,383 | C/T | — | likely benign |
| rs138441935 | 2:3,691,384 | G/A | — | likely benign |
| rs387907075 | 2:3,691,397 | T/C | missense variant | pathogenic |
| rs2528491084 | 2:3,691,400 | T/C | — | uncertain significance |
| rs148786016 | 2:3,691,406 | G/A | — | likely benign |
| rs773407043 | 2:3,691,420 | G/A | — | likely benign |
| rs1666074592 | 2:3,691,449 | A/G | — | uncertain significance |
| rs553743194 | 2:3,691,468 | C/T | — | likely benign |
| rs139848694 | 2:3,691,473 | C/T | — | uncertain significance |
| rs367740433 | 2:3,691,480 | C/T | — | likely benign |
| rs1183115578 | 2:3,691,507 | C/A | — | likely benign |
| rs1471620221 | 2:3,691,514 | C/G | — | uncertain significance |
| rs141570591 | 2:3,691,528 | C/T | — | likely benign |
| rs749339651 | 2:3,691,529 | G/A | — | uncertain significance |
| rs200901540 | 2:3,691,534 | C/T | — | likely benign |
| rs760665726 | 2:3,691,535 | G/T | — | uncertain significance |
| rs756455956 | 2:3,691,578 | G/A | — | uncertain significance |
| rs149123195 | 2:3,691,582 | C/T | — | likely benign |
| rs201597655 | 2:3,691,583 | G/A | — | uncertain significance |
| rs758863458 | 2:3,691,603 | C/T | — | likely benign |
| rs143185171 | 2:3,691,609 | G/A | — | likely benign |
| rs200835001 | 2:3,691,618 | C/T | — | likely benign |
| rs2528493995 | 2:3,691,626 | T/C | — | uncertain significance |
| rs369567362 | 2:3,691,636 | G/A | — | likely benign |
| rs114716171 | 2:3,691,669 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.