CLEC2A

Chr 12

C-type lectin domain family 2 member A

Also known as: INPE5792, KACL, PILAR, UNQ5792

NCBI Gene: 387836 ENSG00000188393 UniProt: Q6UVW9 OMIM: 612087

CLEC2A encodes a membrane-bound protein expressed on keratinocytes that serves as a ligand for the NKp65 receptor on natural killer cells, facilitating immune recognition and NK cell-mediated cytotoxicity while also modulating T-cell expansion. The gene shows extremely high constraint against loss-of-function variants (pLI = 1.0, LOEUF = 1.841), suggesting that haploinsufficiency would likely be pathogenic, but no specific Mendelian diseases have been definitively associated with CLEC2A mutations to date.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein homodimerization activity. Predicted to be involved in NK T cell activation and T cell receptor signaling pathway. Predicted to act upstream of or within several processes, including receptor clustering; regulation of actin filament polymerization; and regulation of interleukin-2 production. Predicted to be located in cell surface. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.84

LOEUF

Multiple*

Mechanism· predicted