CSF3R Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CSF3R |
| Official Name | colony stimulating factor 3 receptor [Source:HGNC Symbol;Acc:HGNC:2439] |
| Ensembl ID | ENSG00000119535 |
| Bio databases IDs | |
| Aliases | colony stimulating factor 3 receptor |
| Synonyms | CD114, colony stimulating factor 3 receptor, Csfgr, G-CSF-R, G-CSF Receptor, G-CSF-R α, SCN7 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CSF3R often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ig-like C2-type domain
- extracellular domain
- Box motif
- signaling receptor activity
- cytokine binding
- protein binding
- Fibronectin type 3 domain
- phosphotyrosine motif
- WSXWS motif
- dileucine internalization motif
- serine-rich region
- cytoplasmic domain
- FN3
- ligand-binding domain
- transmembrane domain
- intracellular domain
- membrane-proximal domain
- transmembrane receptor
- tyrosine phosphorylation site
Pathways
Biological processes and signaling networks where the CSF3R gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Diamond-Blackfan anemia
- rheumatoid arthritis
- Stevens-Johnson syndrome
- lymphoma
- cancer
- leukemia
- epithelial neoplasia
- epithelial cancer
- refractory multiple myeloma
- breast cancer
role in cell
- phosphorylation in
- apoptosis
- migration
- growth
- proliferation
- survival
- activation in
- expression in
- number
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- endocytic vesicle membrane
- Cytoplasm
- cell surface
- cellular membrane
- lysosome
- Golgi Apparatus
- lysosome membrane
- late endosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CSF3R gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- cytokine-mediated signaling pathway
- neutrophil chemotaxis
- cell adhesion
- defense response
- regulation of myeloid cell differentiation
- amelogenesis
Cellular Component
Where in the cell the gene product is active
- external side of plasma membrane
- receptor complex
- extracellular region
- endocytic vesicle membrane
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- granulocyte colony-stimulating factor binding
- signaling receptor activity
- cytokine receptor activity
- cytokine binding