CLEC7A

Chr 12

C-type lectin domain containing 7A

Also known as: BGR, CANDF4, CD369, CLECSF12, DECTIN1, SCARE2

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCandidiasis, familial, 4
0
Active trials
66
Pubs (1 yr)
P/LP submissions
P/LP missense
1.88
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?
1.88LOEUF
pLI 0.000
Z-score -1.08
OE 1.35 (0.891.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.12Z-score
OE missense 0.97 (0.831.13)
120 obs / 123.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.35 (0.891.88)
00.351.4
Missense OE?0.97 (0.831.13)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 15 / 11.1Missense obs/exp: 120 / 123.7Syn Z: 0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CLEC7A · 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.

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