CLEC4M
C-type lectin domain family 4 member M
Summary
This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including tuberculosis mycobacteria, and viruses including Ebola, hepatitis C, HIV-1, influenza A, West Nile virus and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain of variable length, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CD209 (Gene ID: 30835), also known as DC-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression in endothelial cells of the liver, lymph node and placenta. Polymorphisms in the tandem repeat neck domain are associated with resistance to SARS infection. [provided by RefSeq, May 2020]
Known Variants27 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11260029 | 19:7,827,576 | T/C | upstream gene variant | — |
| rs1175209162 | 19:7,828,281 | G/A | — | uncertain significance |
| rs12979429 | 19:7,829,180 | G/A | regulatory region variant | — |
| rs147993793 | 19:7,830,544 | C/A | — | uncertain significance |
| rs974141840 | 19:7,830,649 | C/A | — | uncertain significance |
| rs113080783 | 19:7,830,662 | A/G | missense variant | — |
| rs750548064 | 19:7,830,675 | A/G | — | likely benign |
| rs763218663 | 19:7,830,676 | G/T | — | uncertain significance |
| rs766756019 | 19:7,830,677 | T/C | — | uncertain significance |
| rs2512328089 | 19:7,830,712 | A/G | — | uncertain significance |
| rs76899402 | 19:7,830,731 | G/A | — | likely benign |
| rs2512328436 | 19:7,830,838 | A/G | — | uncertain significance |
| rs59003279 | 19:7,830,936 | G/A | — | likely benign |
| rs144783051 | 19:7,831,007 | A/G | — | likely benign |
| rs552250339 | 19:7,831,018 | G/A | — | uncertain significance |
| rs764498380 | 19:7,831,043 | C/T | — | uncertain significance |
| rs868876 | 19:7,831,226 | A/G | — | — |
| rs2034290412 | 19:7,831,566 | A/G | — | uncertain significance |
| rs2034290702 | 19:7,831,570 | C/A | — | likely benign |
| rs2277998 | 19:7,831,628 | G/A | missense variant | — |
| rs2512331811 | 19:7,831,668 | T/C | — | uncertain significance |
| rs2512331857 | 19:7,831,673 | A/G | — | uncertain significance |
| rs2034395187 | 19:7,833,726 | T/C | — | uncertain significance |
| rs201740080 | 19:7,833,833 | T/C | missense variant | — |
| rs764629639 | 19:7,833,852 | C/T | — | uncertain significance |
| rs62128260 | 19:7,833,876 | T/G | — | — |
| rs67057658 | 19:7,833,940 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.