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

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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

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Disease IDSourceNameDescription
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.
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.