Entity Details

Primary name CSF3R
Entity type gene
Source Source Link

Details

PrimaryID1441
RefseqGeneNG_016270
SymbolCSF3R
Namecolony stimulating factor 3 receptor
Chromosome1
Location1p34.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCSF3R_HUMAN

GO terms

Show/Hide Table
GOName
GO:0004896 cytokine receptor activity
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006952 defense response
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0009897 external side of plasma membrane
GO:0019221 cytokine-mediated signaling pathway
GO:0019955 cytokine binding
GO:0030593 neutrophil chemotaxis
GO:0038023 signaling receptor activity
GO:0043235 receptor complex
GO:0045637 regulation of myeloid cell differentiation
GO:0051916 granulocyte colony-stimulating factor binding
GO:0097186 amelogenesis

Diseases

Show/Hide Table
Disease IDSourceNameDescription
162830 OMIMHereditary neutrophilia (NEUTROPHILIA)A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. The disease is caused by variants affecting the gene represented in this entry.
617014 OMIMNeutropenia, severe congenital 7, autosomal recessive (SCN7)A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disease is caused by variants affecting the gene represented in this entry.