CSF2 (colony stimulating factor 2)

Gene

• Entrez ID: 1437
• Gene name: Colony stimulating factor 2
• Gene symbol: CSF2
• Synonyms: CSF, GMCSF
• Chromosome: 5
• Chromosome location: 5q31.1
• Summary: The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]

Transcription factors

Transcription factor	Regulation	Reference
CREBBP	Unknown	20439113
CTCF	Unknown	19158269
ETS1	Unknown	12475968
ETS2	Activation	12646185
JUN	Unknown	15840658
NFKB1	Unknown	18285351
RELA	Unknown	18285351
RUNX1	Unknown	20439113

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0001821	Process	Histamine secretion	IEA
GO:0001892	Process	Embryonic placenta development	IEA
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005125	Function	Cytokine activity	IDA	3925454
GO:0005129	Function	Granulocyte macrophage colony-stimulating factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	18692472, 25416956, 25910212, 32814053
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	3925454
GO:0006955	Process	Immune response	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9722506
GO:0010628	Process	Positive regulation of gene expression	IDA	10666185
GO:0010744	Process	Positive regulation of macrophage derived foam cell differentiation	IDA	19032770
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0030099	Process	Myeloid cell differentiation	IBA	21873635
GO:0030223	Process	Neutrophil differentiation	IEA
GO:0030224	Process	Monocyte differentiation	IEA
GO:0030225	Process	Macrophage differentiation	IDA	24942581
GO:0032747	Process	Positive regulation of interleukin-23 production	IDA	20027291
GO:0034021	Process	Response to silicon dioxide	IEA
GO:0034405	Process	Response to fluid shear stress	IEA
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0042116	Process	Macrophage activation	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IDA	9722506
GO:0043011	Process	Myeloid dendritic cell differentiation	IDA	16116184
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045187	Process	Regulation of circadian sleep/wake cycle, sleep	IEA
GO:0045637	Process	Regulation of myeloid cell differentiation	TAS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	16606666
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071803	Process	Positive regulation of podosome assembly	IDA	15220135
GO:0097011	Process	Cellular response to granulocyte macrophage colony-stimulating factor stimulus	IDA	24942581
GO:0097028	Process	Dendritic cell differentiation	IDA	21149635
GO:2001240	Process	Negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	10666185

Other IDs

• MIM: 138960
• HGNC: 2434
• e!Ensembl: ENSG00000164400

Protein

• UniProt ID: P04141
• Protein name: Granulocyte-macrophage colony-stimulating factor (GM-CSF) (Colony-stimulating factor) (CSF) (Molgramostin) (Sargramostim)
• Protein function: Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes.
• PDB: 1CSG, 2GMF, 4NKQ, 4RS1, 5C7X, 5D70, 5D71, 5D72, 6BFQ, 6BFS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01109	GM_CSF	18 → 139	Granulocyte-macrophage colony-stimulating factor	Domain

• Sequence:

  MWLQSLLLLGTVACSISAPARSPSPSTQPWEHVNAIQEARRLLNLSRDTAAEMNETVEVI
  SEMFDLQEPTCLQTRLELYKQGLRGSLTKLKGPLTMMASHYKQHCPPTPETSCATQIITF
  ESFKENLKDFLLVIPFDCWEPVQE

• Sequence length: 144