CSF3R
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000760.2,NM_156038.2,NM_156039.2,NM_172313.1 Gene Symbol CSF3R
Protein Name Colony stimulating factor 3 receptor (granulocyte)
Alternate Names CD114, GCSFR
Gene Locus 1p35-p34.3

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
85 00737 138971 1441 1AZ7
2D9Q
 2439 ENSG00000119535 Q99062 CSF3R

Disease name Characteristic / Associated features Category inheritance type
Severe congenital neutropenias, including Kostmann syndrome Neutrophilia; Segmented neutrophils; Myelodysplastic syndrome; temperature instability; fever; irritability; recurrent infections; erosive gingivitis; haemorrhage; pain; Severe neutropenia Congenital defects of Phagocyte number, function or both Autosomal dominant