LMAN2L
lectin, mannose binding 2 like
Summary
This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs372022200 | 2:97,372,988 | A/C | — | likely benign |
| rs374083188 | 2:97,373,003 | C/T | — | uncertain significance |
| rs200471379 | 2:97,373,009 | C/T | — | uncertain significance |
| rs145223069 | 2:97,373,064 | C/T | — | uncertain significance |
| rs143220263 | 2:97,373,069 | A/C | — | uncertain significance |
| rs753202545 | 2:97,373,088 | C/T | — | uncertain significance |
| rs373872984 | 2:97,373,488 | C/T | — | likely benign |
| rs1573993013 | 2:97,373,500 | G/A | — | likely benign |
| rs562532874 | 2:97,373,530 | T/C | — | likely benign |
| rs531289024 | 2:97,373,536 | T/C | — | likely benign |
| rs56351161 | 2:97,373,817 | G/A | downstream gene variant | — |
| rs1469575298 | 2:97,373,843 | T/C | — | uncertain significance |
| rs80129946 | 2:97,377,383 | G/A | — | benign |
| rs2077918865 | 2:97,377,401 | T/A | — | uncertain significance |
| rs773649192 | 2:97,377,437 | C/T | — | likely pathogenic |
| rs1310668607 | 2:97,377,438 | G/C | — | uncertain significance |
| rs1034134125 | 2:97,377,444 | G/A | — | likely benign |
| rs374254632 | 2:97,377,446 | C/A | — | uncertain significance |
| rs368460835 | 2:97,377,464 | A/G | — | uncertain significance |
| rs779449487 | 2:97,377,612 | T/C | — | uncertain significance |
| rs753445500 | 2:97,377,618 | C/T | — | uncertain significance |
| rs143337559 | 2:97,377,619 | G/A | — | likely benign |
| rs747360404 | 2:97,377,624 | G/A | — | uncertain significance |
| rs201001633 | 2:97,377,653 | T/C | — | uncertain significance |
| rs149461143 | 2:97,377,702 | G/A | — | uncertain significance |
| rs142251037 | 2:97,377,726 | C/T | — | uncertain significance |
| rs768927598 | 2:97,377,731 | T/C | — | uncertain significance |
| rs758530620 | 2:97,378,864 | G/A | — | uncertain significance |
| rs72941253 | 2:97,392,707 | C/G | intron variant | — |
| rs768221465 | 2:97,399,281 | T/C | — | uncertain significance |
| rs2078470068 | 2:97,400,135 | G/A | — | uncertain significance |
| rs2469402933 | 2:97,400,145 | C/T | — | uncertain significance |
| rs199689213 | 2:97,400,231 | C/T | — | likely benign |
| rs747652435 | 2:97,400,273 | G/A | — | likely benign |
| rs554095447 | 2:97,403,698 | C/T | — | likely benign |
| rs1431584348 | 2:97,403,802 | C/T | — | uncertain significance |
| rs2271893 | 2:97,405,440 | G/T | — | — |
| rs2078596924 | 2:97,405,587 | T/G | — | uncertain significance |
| rs2153338745 | 2:97,405,598 | G/C | — | likely benign |
| rs869320632 | 2:97,405,620 | C/T | missense variant | pathogenic |
| rs756734542 | 2:97,405,637 | C/T | — | likely benign |
| rs2469423528 | 2:97,405,716 | C/T | — | uncertain significance |
| rs1028008100 | 2:97,405,732 | G/T | — | uncertain significance |
| rs1052725621 | 2:97,405,739 | C/G | — | uncertain significance |
| rs367588914 | 2:97,405,749 | G/A | — | uncertain significance |
| rs762511900 | 2:97,405,755 | A/T | — | uncertain significance |
| rs576728406 | 2:97,405,760 | T/A | — | likely benign |
| rs773987460 | 2:97,405,773 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.