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

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: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (132073789..132076170)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (132593659..132596040)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (131409482..131411863)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A GITRL-mTORC1-GM-CSF Positive Loop Promotes Pathogenic Th17 Response in Primary Sjogren Syndrome.
Title: A GITRL-mTORC1-GM-CSF Positive Loop Promotes Pathogenic Th17 Response in Primary Sjögren Syndrome.
GM-CSF Promotes the Development of Dysfunctional Vascular Networks in Moyamoya Disease.
Title: GM-CSF Promotes the Development of Dysfunctional Vascular Networks in Moyamoya Disease.
Adenine is an anti-inflammatory metabolite found to be more abundant in M-CSF over GM-CSF-differentiated human macrophages.
Title: Adenine is an anti-inflammatory metabolite found to be more abundant in M-CSF over GM-CSF-differentiated human macrophages.
T1 and FLAIR signal intensities are related to tau pathology in dominantly inherited Alzheimer disease.
Title: T1 and FLAIR signal intensities are related to tau pathology in dominantly inherited Alzheimer disease.
Nicotinamide N -methyltransferase promotes M2 macrophage polarization by IL6 and MDSC conversion by GM-CSF in gallbladder carcinoma.
Title: Nicotinamide N -methyltransferase promotes M2 macrophage polarization by IL6 and MDSC conversion by GM-CSF in gallbladder carcinoma.
GM-CSF is a marker of compartmentalised intrathecal inflammation in multiple sclerosis.
Title: GM-CSF is a marker of compartmentalised intrathecal inflammation in multiple sclerosis.
Eosinophils induces glioblastoma cell suppression and apoptosis - Roles of GM-CSF and cysteinyl-leukotrienes.
Title: Eosinophils induces glioblastoma cell suppression and apoptosis - Roles of GM-CSF and cysteinyl-leukotrienes.
PAK1 overexpression promotes myxofibrosarcoma angiogenesis through STAT5B-mediated CSF2 transactivation: clinical and therapeutic relevance of amplification and nuclear entry.
Title: PAK1 overexpression promotes myxofibrosarcoma angiogenesis through STAT5B-mediated CSF2 transactivation: clinical and therapeutic relevance of amplification and nuclear entry.
Role of GM-CSF in lung balance and disease.
Title: Role of GM-CSF in lung balance and disease.
Granulocyte-macrophage colony-stimulating factor: Conductor of the wound healing orchestra?
Title: Granulocyte-macrophage colony-stimulating factor: Conductor of the wound healing orchestra?

Submit: New GeneRIF Correction See all GeneRIFs (240)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC102624P2 (e-PCR)
- UniSTS:270090

STS-M11220 (e-PCR)
- UniSTS:41482

GDB:374166 (e-PCR)
- UniSTS:156946

STS-M13207 (e-PCR)
- UniSTS:16160

ECD00779 (e-PCR)
- UniSTS:281888

ECD01587 (e-PCR)
- UniSTS:282689

NoName (e-PCR)
- UniSTS:481094

REN68751 (e-PCR)
- UniSTS:393551

REN68752 (e-PCR)
- UniSTS:393552

REN68753 (e-PCR)
- UniSTS:393553

REN68754 (e-PCR)
- UniSTS:393554

NoName (e-PCR)
- UniSTS:482386

REN68755 (e-PCR)
- UniSTS:393555

NoName (e-PCR)
- UniSTS:486483

REN68756 (e-PCR)
- UniSTS:393556

REN68757 (e-PCR)
- UniSTS:393557

REN68758 (e-PCR)
- UniSTS:393558

REN68759 (e-PCR)
- UniSTS:393559

REN68760 (e-PCR)
- UniSTS:393560

REN68761 (e-PCR)
- UniSTS:393561

REN68762 (e-PCR)
- UniSTS:393562

REN68763 (e-PCR)
- UniSTS:393563

REN68764 (e-PCR)
- UniSTS:393564

REN68765 (e-PCR)
- UniSTS:393565

REN68766 (e-PCR)
- UniSTS:393566

REN68767 (e-PCR)
- UniSTS:393567

REN68768 (e-PCR)
- UniSTS:393568

REN68769 (e-PCR)
- UniSTS:393569

REN68770 (e-PCR)
- UniSTS:393570

REN68771 (e-PCR)
- UniSTS:393571

G15899 (e-PCR)
- UniSTS:10107

ECD01399 (e-PCR)
- UniSTS:282504

GDB:624806 (e-PCR)
- UniSTS:158361

GDB:624816 (e-PCR)
- UniSTS:158362

D5S2591 (e-PCR)
- UniSTS:72352

ECD01256 (e-PCR)
- UniSTS:282363

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 cell surface receptor signaling pathway via 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 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

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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)

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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

NG_033024.1 RefSeqGene

Range

4998..7379

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000758.4 → NP_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:18 → 138

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 ...