CLEC12A
Description
The CLEC12A (C-type lectin domain family 12 member A) is a protein-coding gene located on chromosome 12.
CLEC12A, or C-type lectin domain family 12 member A, is a protein encoded by the CLEC12A gene in humans. It belongs to the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily, which shares a common protein structure and diverse functions like cell adhesion, signaling, glycoprotein turnover, and roles in inflammation and immunity. CLEC12A acts as a negative regulator of granulocyte and monocyte activity. Multiple transcript variants of this gene have been identified, but the complete structure of some is uncertain. CLEC12A is closely associated with other CTL/CTLD superfamily members within the natural killer gene complex region on chromosome 12p13. CLEC12A, also known as MICL, is an inhibitory C-type lectin-like receptor with an ITIM motif in its cytoplasmic tail, enabling interactions with the signaling phosphatases SHP-1 and SHP-2. There are two versions, human (hMICL) and murine (mMICL). Human MICL exists as a monomer primarily found on myeloid cells, including granulocytes, monocytes, macrophages, and dendritic cells.
CLEC12A is a cell surface receptor that influences signaling pathways and promotes tyrosine phosphorylation of specific MAP kinases.
CLEC12A is also known as CD371, CLL-1, CLL1, DCAL-2, MICL.
Associated Diseases
- recurrent Neisseria infections due to factor D deficiency
- immunodeficiency 28
- type II complement component 8 deficiency
- mannose-binding lectin deficiency
- immunodeficiency due to ficolin3 deficiency
- COVID-19
