CLEC7A
C-type lectin domain containing 7A
Summary
This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs7959451 | 12:10,271,055 | T/C | — | benign |
| rs151164069 | 12:10,271,062 | T/A | — | likely benign |
| rs16910526 | 12:10,271,087 | A/C | stop gained | risk factor |
| rs1947977154 | 12:10,271,097 | A/G | — | uncertain significance |
| rs761669631 | 12:10,271,128 | C/T | — | uncertain significance |
| rs16910527 | 12:10,271,133 | A/C | missense variant | benign |
| rs74617318 | 12:10,271,678 | A/C | intron variant | — |
| rs7309123 | 12:10,272,593 | G/C | intron variant | — |
| rs73068857 | 12:10,273,625 | A/T | — | — |
| rs527881520 | 12:10,275,333 | G/A | — | — |
| rs528725727 | 12:10,275,753 | C/G | — | — |
| rs140318683 | 12:10,275,908 | G/A | — | likely benign |
| rs1948157159 | 12:10,275,919 | A/G | — | uncertain significance |
| rs746011994 | 12:10,275,925 | T/G | — | uncertain significance |
| rs369160278 | 12:10,275,972 | A/G | — | likely benign |
| rs2078178 | 12:10,276,562 | A/T | — | — |
| rs17206002 | 12:10,276,947 | T/A | intron variant | — |
| rs3901533 | 12:10,277,083 | A/C | intron variant | — |
| rs11053613 | 12:10,277,113 | T/C | intron variant | — |
| rs3901532 | 12:10,277,171 | C/T | intron variant | — |
| rs59819090 | 12:10,277,906 | G/A | — | benign |
| rs143893294 | 12:10,277,974 | T/C | — | uncertain significance |
| rs138619592 | 12:10,277,981 | A/C | — | uncertain significance |
| rs144190589 | 12:10,277,991 | G/A | — | likely benign |
| rs752786951 | 12:10,278,003 | T/C | — | uncertain significance |
| rs191421705 | 12:10,279,161 | T/C | — | likely benign |
| rs759316170 | 12:10,279,206 | C/G | — | uncertain significance |
| rs762084926 | 12:10,279,242 | C/T | — | uncertain significance |
| rs368397655 | 12:10,279,266 | C/T | — | uncertain significance |
| rs1396267988 | 12:10,280,359 | G/A | — | likely benign |
| rs373489756 | 12:10,280,417 | C/T | — | uncertain significance |
| rs200838121 | 12:10,280,418 | G/A | — | uncertain significance |
| rs150877695 | 12:10,280,426 | G/A | — | uncertain significance |
| rs139322458 | 12:10,280,427 | G/C | — | uncertain significance |
| rs16910631 | 12:10,281,255 | C/A | — | — |
| rs78955363 | 12:10,283,422 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.