CLEC6A
C-type lectin domain containing 6A
Summary
The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs118084065 | 12:8,608,730 | A/C | missense variant | — |
| rs4264222 | 12:8,611,768 | T/C | upstream gene variant | — |
| rs749657245 | 12:8,618,151 | G/T | — | likely benign |
| rs141203382 | 12:8,618,186 | G/A | — | uncertain significance |
| rs7134303 | 12:8,618,563 | G/A | downstream gene variant | — |
| rs368271517 | 12:8,628,745 | G/A | — | uncertain significance |
| rs373627140 | 12:8,628,778 | C/A | — | uncertain significance |
| rs958916546 | 12:8,628,787 | A/G | — | uncertain significance |
| rs2540200849 | 12:8,628,818 | C/T | — | uncertain significance |
| rs1481926276 | 12:8,629,939 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.