CD114

CD114 is the provisional designation for a human gene and its corresponding protein. It is also known as CSF3R, which stands for colony-stimulating factor 3 receptor. This protein is a transmembrane receptor that plays a crucial role in the development, differentiation, and function of myeloid cells, particularly neutrophils.

The CD114 protein is a member of the cytokine receptor superfamily. It binds to granulocyte colony-stimulating factor (G-CSF), a key signaling molecule that regulates the production of neutrophils in the bone marrow. Upon binding to G-CSF, CD114 dimerizes and activates intracellular signaling pathways, such as the JAK/STAT pathway and the MAPK pathway. These pathways ultimately lead to changes in gene expression that promote neutrophil survival, proliferation, and their ability to fight infections.

Mutations in the CD114 gene are associated with several hematological disorders. For instance, germline mutations in CSF3R can lead to congenital neutropenia, a condition characterized by a severe deficiency of neutrophils. Acquired mutations in CSF3R are frequently observed in myeloid malignancies, including chronic neutrophilic leukemia and myelodysplastic syndromes. These mutations can lead to constitutive activation of the receptor, promoting uncontrolled proliferation of myeloid cells. Research into CD114 continues to shed light on normal hematopoiesis and the pathogenesis of various blood disorders.