Granulocyte colony-stimulating factor receptor

The granulocyte colony-stimulating factor receptor (G-CSF-R) also known as CD114 (Cluster of Differentiation 114) is a is_associated_with::protein that in humans is encoded by the CSF3R is_associated_with::gene. G-CSF-R is a cell-surface receptor for the is_associated_with::granulocyte colony-stimulating factor (G-CSF). The G-CSF receptors belongs to a family of is_associated_with::cytokine receptors known as the hematopoietin receptor family.The granulocyte colony-stimulating factor receptor is present on precursor cells in the is_associated_with::bone marrow, and, in response to stimulation by G-CSF, initiates is_associated_with::cell proliferation and differentiation into mature neutrophilic is_associated_with::granulocytes and is_associated_with::macrophages.

The G-CSF-R is a is_associated_with::transmembrane receptor that consists of an extracellular ligand-binding portion, a transmembrane domain, and the cytoplasmic portion that is responsible for is_associated_with::signal transduction. GCSF-R ligand-binding is associated with dimerization of the receptor and signal transduction through proteins including Jak, Lyn, STAT, and Erk1/2.

Isoforms
The class IV isoform defective for both internalization and differentiation signaling.

Clinical significance
Mutations in this gene are a cause of is_associated_with::Kostmann syndrome, also known as severe congenital is_associated_with::neutropenia.

is_associated_with::Mutations in the intracellular part of this receptor are also associated with certain types of is_associated_with::leukemia.

In clinical medicine, there is a suggestion that use of GCSF should be avoided, at least in children and adolescents and perhaps adults, when G-CSFR isoform IV is overexpressed.

Interactions
Granulocyte colony-stimulating factor receptor has been shown to interact with is_associated_with::Grb2, is_associated_with::HCK and is_associated_with::SHC1.