CLEC4E

Chr 12

C-type lectin domain family 4 member E

Also known as: CLECSF9, MINCLE

NCBI Gene: 26253 ENSG00000166523 UniProt: Q9ULY5

The protein encoded by this gene is a calcium-dependent lectin that functions as a pattern recognition receptor in innate immunity, recognizing damage-associated molecular patterns from damaged cells and pathogen-associated molecular patterns from bacteria and fungi. Mutations in CLEC4E cause susceptibility to chronic mucocutaneous candidiasis, an immunodeficiency disorder characterized by recurrent fungal infections of the skin, nails, and mucous membranes with autosomal recessive inheritance. The gene shows low constraint against loss-of-function variants (pLI near 0), consistent with recessive disease requiring biallelic mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. 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…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.29

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)