Home > Gene Browser > CLEC7A
CLEC7A
- Synonyms
- BGR, CANDF4, CD369, CLECSF12, DECTIN1, SCARE2
- External resources
- NCBI64581
- OMIM606264
- EnsemblENSG00000172243
- HGNCHGNC:14558
- 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.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 0
- Likely pathogenic
- 0
- VUS
- 3,380
- Likely benign
- 9,759
- Benign
- 73
Patient phenotypes
No patients carry pathogenic or likely pathogenic variants on CLEC7A gene.
- Phenotype class
- Patients in 3billion (%)
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