CLEC6A

Chr 12

C-type lectin domain containing 6A

Also known as: CLEC4N, CLECSF10, dectin-2, hDECTIN-2

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]

ResearchGenerating clinical summary…
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.44
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.44LOEUF
pLI 0.000
Z-score 0.47
OE 0.85 (0.521.44)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.03Z-score
OE missense 1.01 (0.861.19)
104 obs / 103.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.85 (0.521.44)
00.351.4
Missense OE?1.01 (0.861.19)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 10 / 11.7Missense obs/exp: 104 / 103.2Syn Z: 0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CLEC6A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →