Aliases for CSF3R Gene
External Ids for CSF3R Gene
Previous HGNC Symbols for CSF3R Gene
Previous GeneCards Identifiers for CSF3R Gene
The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
GeneCards Summary for CSF3R Gene
CSF3R (Colony Stimulating Factor 3 Receptor) is a Protein Coding gene. Diseases associated with CSF3R include Neutropenia, Severe Congenital, 7, Autosomal Recessive and Neutrophilia, Hereditary. Among its related pathways are Cytokine Signaling in Immune system and Akt Signaling. Gene Ontology (GO) annotations related to this gene include receptor activity and cytokine receptor activity. An important paralog of this gene is IL6ST.
UniProtKB/Swiss-Prot for CSF3R Gene
Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.