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

    Gene ID: 1437, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:2434
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CSF2 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132073789..132076170)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132593659..132596040)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131409482..131411863)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA synthetase long chain family member 6 Neighboring gene uncharacterized LOC124901062 Neighboring gene MPRA-validated peak5463 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16311 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131366011-131366190 Neighboring gene uncharacterized LOC105379174 Neighboring gene enhancer-blocking elements downstream of IL3 Neighboring gene origin of replication downstream of CSF2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131423316-131423538 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:131429841-131431040 Neighboring gene interleukin 3 Neighboring gene Sharpr-MPRA regulatory region 12197 Neighboring gene Sharpr-MPRA regulatory region 14284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131517361-131517888 Neighboring gene NANOG hESC enhancer GRCh37_chr5:131520231-131520732 Neighboring gene Sharpr-MPRA regulatory region 7421 Neighboring gene P4HA2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131543137-131543638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131543639-131544138 Neighboring gene prolyl 4-hydroxylase subunit alpha 2 Neighboring gene microRNA 6830

    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

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
    EBI GWAS Catalog

    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

    Clone Names

    • MGC131935, MGC138897

    Gene Ontology Provided by GOA

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

    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)

    NEW Try the new Transcript table

    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, Q14CE8, Q2VPI8, Q8NFI6
      UniProtKB/TrEMBL
      Q647J8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      132593659..132596040
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)