Format

Send to:

Choose Destination

CSF2 colony stimulating factor 2 [ Homo sapiens (human) ]

Gene ID: 1437, updated on 19-Sep-2020

Summary

Official Symbol
CSF2provided by HGNC
Official Full Name
colony stimulating factor 2provided by HGNC
Primary source
HGNC:HGNC:2434
See related
Ensembl:ENSG00000164400 MIM:138960
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CSF; GMCSF
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]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in cytokine storm inflammatory response.
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CSF2 in Genome Data Viewer
Location:
5q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (132073789..132076170)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131409485..131411863)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379174 Neighboring gene enhancer-blocking elements downstream of IL3 Neighboring gene interleukin 3 Neighboring gene origin of replication downstream of CSF2 Neighboring gene Sharpr-MPRA regulatory region 14284

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG (Angiogenin), ADIPOQ (ACRP30), CSF3, CXCL1, ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of colony stimulating factor 2 (CSF2) in human B cells PubMed
env HIV-1 gp120 stimulates monocytes to release TNF-alpha, IL-1 beta, IL-6, and granulocyte-macrophage-CSF, and this effect can be blocked with soluble CD4 PubMed
Envelope surface glycoprotein gp160, precursor env The aberrant activation of AP-1 by HIV-1 gp160 in CD4+ T cells is hypothesized to upregulate cytokines containing AP-1 sites (e.g. IL-3 and colony stimulating factor) and lead to T cell unresponsiveness by inhibiting interleukin-2 secretion PubMed
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 inhibits activation of PBMCs and upregulates the expression of GM-CSF in peptide-treated PBMCs PubMed
Nef nef HIV-1 infected clinical samples have plasma extracellular vesicles that contain CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG (Angiogenin), ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors PubMed
nef HIV-1 Nef-stimulated CD8+ T cells upregulate mRNAs expression for IFN-gamma, MIP-1alpha, MIP-1alphaP, MIP-1beta, TNFRSF9, XCL1, and GM-CSF compared to unstimulated cells PubMed
nef IL-12 and GM-CSF increase the magnitude of the specific immune response with higher breadth by targeting HIV-1 Nef peptides (amino acids 9-23, 11-26, 140-155, 179-193, and 181-195) PubMed
Pr55(Gag) gag HIV-1 Gag virus-like particles expressed by recombinant baculoviruses activate human PBMC to release GM-CSF and MIP-1alpha in a dose-and time-dependent manner PubMed
Tat tat HIV-1 Tat upregulates GM-CSF production in uninfected mononuclear cells and synergizes with PMA+PHA to induce GM-CSF in Raji B-cells and Jurkat T-cells PubMed
Vif vif HIV-1 Vif upregulates the expression of colony stimulating factor 2 (CSF2) in Vif-expression T cells PubMed
capsid gag Levels of p24 are significantly higher in cell cultures from HIV-1-exposed infants compared to healthy controls after immune activation by IL-2 or GM-CSF PubMed
gag HIV-1 CA-stimulated CD8+ T cells upregulate mRNAs expression for IFN-gamma, MIP-1alpha, MIP-1alphaP, MIP-1beta, TNFRSF9, XCL1, and GM-CSF compared to unstimulated cells PubMed
reverse transcriptase gag-pol Human GM-CSF-induced HIV-1 RT activity is suppressed by WR-151327 in a dose-dependent manner PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC131935, MGC138897

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine activity IDA
Inferred from Direct Assay
more info
PubMed 
granulocyte macrophage colony-stimulating factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
cellular response to granulocyte macrophage colony-stimulating factor stimulus IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
dendritic cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
embryonic placenta development IEA
Inferred from Electronic Annotation
more info
 
epithelial fluid transport IEA
Inferred from Electronic Annotation
more info
 
histamine secretion IEA
Inferred from Electronic Annotation
more info
 
immune response IEA
Inferred from Electronic Annotation
more info
 
macrophage activation IEA
Inferred from Electronic Annotation
more info
 
macrophage differentiation IDA
Inferred from Direct Assay
more info
PubMed 
monocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
myeloid cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myeloid dendritic cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of interleukin-23 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of macrophage derived foam cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of podosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of tyrosine phosphorylation of STAT protein IDA
Inferred from Direct Assay
more info
PubMed 
regulation of circadian sleep/wake cycle, sleep IEA
Inferred from Electronic Annotation
more info
 
regulation of myeloid cell differentiation TAS
Traceable Author Statement
more info
 
response to fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
response to silicon dioxide IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
granulocyte-macrophage colony-stimulating factor
Names
colony stimulating factor 2 (granulocyte-macrophage)
granulocyte macrophage-colony stimulating factor
molgramostim
molgramostin
sargramostim

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033024.1 RefSeqGene

    Range
    4998..7379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000758.4NP_000749.2  granulocyte-macrophage colony-stimulating factor precursor

    See identical proteins and their annotated locations for NP_000749.2

    Status: REVIEWED

    Source sequence(s)
    AC034228, BC108724, M11220
    Consensus CDS
    CCDS4150.1
    UniProtKB/Swiss-Prot
    P04141
    Related
    ENSP00000296871.2, ENST00000296871.4
    Conserved Domains (1) summary
    cd00040
    Location:18138
    CSF2; Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) is a member of the large family of polypeptide growth factors called cytokines. It stimulates a wide variety of hematopoietic and nonhematopoietic cell types via binding to members of the cytokine ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    132073789..132076170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center