CD209
CD209 molecule
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 leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, 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, 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, CLEC4M (Gene ID: 10332), also known as L-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression on the surface of dendritic cells. Polymorphisms in the neck region are associated with protection from HIV-1 infection, while single nucleotide polymorphisms in the promoter of this gene are associated with differing resistance and susceptibility to and severity of infectious disease, including rs4804803, which is associated with SARS severity. [provided by RefSeq, May 2020]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8112555 | 19:7,804,515 | A/G | downstream gene variant | — |
| rs11465427 | 19:7,804,730 | T/C | downstream gene variant | — |
| rs4804800 | 19:7,805,128 | G/C | — | — |
| rs11465413 | 19:7,805,951 | A/T | 3 prime UTR variant | — |
| rs7248637 | 19:7,807,027 | A/C | — | — |
| rs767060536 | 19:7,807,944 | G/C | — | uncertain significance |
| rs11465394 | 19:7,807,955 | G/A | — | benign |
| rs1196424523 | 19:7,808,005 | T/C | — | uncertain significance |
| rs35545365 | 19:7,808,069 | C/T | — | benign |
| rs1568509808 | 19:7,808,083 | C/T | — | uncertain significance |
| rs78866372 | 19:7,809,013 | G/A | — | benign |
| rs1172498367 | 19:7,809,077 | C/A | — | likely benign |
| rs17159887 | 19:7,809,079 | T/C | — | benign |
| rs759862642 | 19:7,809,845 | G/T | — | likely benign |
| rs2512299970 | 19:7,809,885 | A/G | — | uncertain significance |
| rs11465384 | 19:7,810,006 | G/A | intron variant | — |
| rs145850292 | 19:7,810,421 | T/C | — | likely benign |
| rs11465379 | 19:7,810,483 | C/T | — | likely benign |
| rs41335247 | 19:7,810,490 | C/T | — | benign |
| rs11465377 | 19:7,810,510 | C/G | — | uncertain significance |
| rs913323682 | 19:7,810,511 | T/C | — | uncertain significance |
| rs1416643961 | 19:7,810,517 | T/A | — | uncertain significance |
| rs2033787307 | 19:7,810,552 | C/T | — | likely benign |
| rs41374747 | 19:7,810,559 | C/T | — | likely benign |
| rs749759932 | 19:7,810,586 | T/A | — | uncertain significance |
| rs551425556 | 19:7,810,630 | A/G | — | likely benign |
| rs776341389 | 19:7,810,730 | G/T | — | uncertain significance |
| rs769761518 | 19:7,810,758 | C/A | — | uncertain significance |
| rs200171403 | 19:7,810,766 | C/T | — | likely benign |
| rs2512302995 | 19:7,810,928 | T/C | — | uncertain significance |
| rs2033827977 | 19:7,811,352 | C/A | — | uncertain significance |
| rs7252229 | 19:7,812,181 | G/C | regulatory region variant | — |
| rs1240511094 | 19:7,812,198 | A/T | — | uncertain significance |
| rs1447997798 | 19:7,812,201 | T/C | — | uncertain significance |
| rs778207508 | 19:7,812,360 | C/A | — | uncertain significance |
| rs2287886 | 19:7,812,536 | A/T | — | — |
| rs4804803 | 19:7,812,733 | A/G | upstream gene variant | risk factor |
| rs735239 | 19:7,813,268 | A/G | upstream gene variant | risk factor |
| rs735240 | 19:7,813,336 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.