CLEC4A
Description
The CLEC4A (C-type lectin domain family 4 member A) is a protein-coding gene located on chromosome 12.
CLEC4A, or C-type lectin domain family 4 member A, is a protein encoded by the CLEC4A gene in humans. It belongs to the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily, which shares a common protein fold and exhibits diverse functions, including cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. CLEC4A acts as a type 2 transmembrane protein and is potentially involved in inflammatory and immune responses. Multiple transcript variants have been identified for this gene, resulting in different isoforms. The CLEC4A gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region.
CLEC4A is a C-type lectin receptor that binds carbohydrates such as mannose and fucose, and weakly interacts with N-acetylglucosamine in a calcium-dependent manner. It plays a role in regulating immune responses. Upon antigen triggering, CLEC4A is internalized via clathrin-dependent endocytosis and delivers the antigen to the antigen presentation pathway, leading to the cross-priming of CD8+ T cells. This process is enhanced by TLR7 and TLR8 agonists, resulting in increased CD8+ T cell expansion and production of IFNG and TNF, while reducing IL4, IL5 and IL13 levels. In plasmacytoid dendritic cells, CLEC4A inhibits TLR9-mediated IFNA and TNF production. It may also be involved in the inhibition of B-cell receptor-mediated calcium mobilization and protein tyrosine phosphorylation through its ITIM motif.
CLEC4A is also known as CD367, CLECSF6, DCIR, DDB27, HDCGC13P, LLIR, hDCIR.
Associated Diseases
- endometrial cancer
- immunodeficiency 72 with autoinflammation
- hyper-IgM syndrome type 5
- autoimmune lymphoproliferative syndrome type 2B
- immunodeficiency 25
- common variable immunodeficiency
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- isolated agammaglobulinemia
- pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- immunodeficiency, common variable, 14
- immunodeficiency 78 with autoimmunity and developmental delay
- immunodeficiency, common variable, 4
- cancer
