CLEC4C

Chr 12

C-type lectin domain family 4 member C

Also known as: BDCA-2, BDCA2, CD303, CLECSF11, CLECSF7, DLEC, HECL, PRO34150

NCBI Gene: 170482 ENSG00000198178 UniProt: Q8WTT0

This gene encodes a lectin-type cell surface receptor that recognizes specific glycan structures and plays a role in antigen capture and presentation by dendritic cells, as well as regulation of interferon expression in immune responses. Mutations cause autosomal recessive immunodeficiency, with patients presenting with recurrent infections and immune dysfunction typically manifesting in early childhood. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

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 2 transmembrane protein may play a role in dendritic cell function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)