CLEC2D

Chr 12

C-type lectin domain family 2 member D

Also known as: CLAX, LLT1, OCIL

NCBI Gene: 29121 ENSG00000069493 UniProt: Q9UHP7 OMIM: 605659

CLEC2D encodes a C-type lectin receptor that inhibits natural killer cell-mediated lysis, modulates interferon-gamma release, and inhibits osteoclast formation and bone resorption. Mutations cause autosomal recessive chronic mucocutaneous candidiasis, an immunodeficiency disorder affecting skin and mucous membranes. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), suggesting some intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.67

LOEUF

Multiple*

Mechanism· predicted