CSF3R
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2D9Q
Identifiers
Aliases	CSF3R, CD114, GCSFR, colony stimulating factor 3 receptor, SCN7
External IDs	OMIM: 138971 MGI: 1339755 HomoloGene: 601 GeneCards: CSF3R
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p34.3 Start 36,466,043 bp[1] End 36,483,278 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 59.77 cM Start 125,918,343 bp[2] End 125,938,233 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte blood upper lobe of left lung right lung spleen bone marrow cells placenta lower lobe of lung spongy bone appendix Top expressed in blood blastocyst bone marrow morula spleen right lung right lung lobe body of femur neuron superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytokine receptor activity protein binding granulocyte colony-stimulating factor binding signaling receptor activity interleukin-3 receptor activity cytokine binding interleukin-3 binding Cellular component integral component of membrane extracellular region integral component of plasma membrane membrane plasma membrane external side of plasma membrane receptor complex Biological process defense response cell adhesion regulation of myeloid cell differentiation neutrophil chemotaxis signal transduction amelogenesis cytokine-mediated signaling pathway cellular response to interleukin-3 interleukin-3-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1441 12986 Ensembl ENSG00000119535 ENSMUSG00000028859 UniProt Q99062 P40223 RefSeq (mRNA) NM_000760 NM_156038 NM_156039 NM_172313 NM_001252651 NM_007782 RefSeq (protein) NP_000751 NP_724781 NP_758519 NP_001239580 NP_031808 Location (UCSC) Chr 1: 36.47 – 36.48 Mb Chr 4: 125.92 – 125.94 Mb PubMed search [3] [4]
Wikidata
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The granulocyte colony-stimulating factor receptor (G-CSF-R) also known as CD114 (Cluster of Differentiation 114) is a protein that in humans is encoded by the CSF3R gene.^[5] G-CSF-R is a cell-surface receptor for the granulocyte colony-stimulating factor (G-CSF).^[6] The G-CSF receptors belong to a family of cytokine receptors known as the hematopoietin receptor family. The granulocyte colony-stimulating factor receptor is present on precursor cells in the bone marrow, and, in response to stimulation by G-CSF, initiates cell proliferation and differentiation into mature neutrophilic granulocytes and macrophages.

The G-CSF-R is a transmembrane receptor that consists of an extracellular ligand-binding portion, a transmembrane domain, and the cytoplasmic portion that is responsible for 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,^[7] and colony-stimulating.

Clinical significance

Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.^[8]

Mutations in the intracellular part of this receptor are also associated with certain types of leukemia.^[9]

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.^[10]

Interactions

Granulocyte colony-stimulating factor receptor has been shown to interact with Grb2,^[11] HCK^[12] and SHC1.^[11]