CLEC2B

Chr 12

C-type lectin domain family 2 member B

Also known as: AICL, CLECSF2, HP10085, IFNRG1

NCBI Gene: 9976 ENSG00000110852 UniProt: Q92478

CLEC2B encodes a membrane-bound protein expressed on myeloid cells that acts as a ligand for the NKp80 receptor on natural killer cells, stimulating NK cell cytotoxicity and cytokine production. Mutations cause autosomal recessive spastic paraplegia with microcephaly, intellectual disability, and developmental delays typically presenting in early childhood. This gene is not highly constrained against loss-of-function variants.

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 function as a cell activation antigen. An alternative splice variant has been described but its 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

—

P/LP missense

1.19

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)