IL3 interleukin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL3provided by HGNC
Official Full Name: interleukin 3provided by HGNC
Primary source: HGNC:HGNC:6011
See related: Ensembl:ENSG00000164399 MIM:147740; AllianceGenome:HGNC:6011
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: IL-3; MCGF; MULTI-CSF
Summary: The protein encoded by this gene is a potent growth promoting cytokine. This cytokine is capable of supporting the proliferation of a broad range of hematopoietic cell types. It is involved in a variety of cell activities such as cell growth, differentiation and apoptosis. This cytokine has been shown to also possess neurotrophic activity, and it may be associated with neurologic disorders. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (132060655..132063204)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (132580524..132583073)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (131396348..131398897)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
Title: ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
Quantitative estimation of TNF-alpha and IL-3 by using ELISA from human lung tissue in fatal asphyxial deaths.
Title: Quantitative estimation of TNF-α and IL-3 by using ELISA from human lung tissue in fatal asphyxial deaths.
Interleukin-3 coordinates glial-peripheral immune crosstalk to incite multiple sclerosis.
Title: Interleukin-3 coordinates glial-peripheral immune crosstalk to incite multiple sclerosis.
Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.
Title: Conformational and binding mode assessment of the human IL-3 recognition by its alpha receptor.
Interleukin-3 protects against viral pneumonia in sepsis by enhancing plasmacytoid dendritic cell recruitment into the lungs and T cell priming.
Title: Interleukin-3 protects against viral pneumonia in sepsis by enhancing plasmacytoid dendritic cell recruitment into the lungs and T cell priming.
An Immunoregulatory Role of Interleukin-3 in Allergic Asthma.
Title: An Immunoregulatory Role of Interleukin-3 in Allergic Asthma.
Demonstration and implications of IL-3 upregulation of CD25 expression on human mast cells.
Title: Demonstration and implications of IL-3 upregulation of CD25 expression on human mast cells.
The association between serum level and genetic variation of IL-3 (rs40401) in recurrent abortion women infected with toxoplasmosis in Iraq.
Title: The association between serum level and genetic variation of IL-3 (rs40401) in recurrent abortion women infected with toxoplasmosis in Iraq.
Persistent astrocytic IL-3 stimulation of microglia slows disease in Alzheimer's: treatment perspectives for Alzheimer's.
Title: Persistent astrocytic IL-3 stimulation of microglia slows disease in Alzheimer's: treatment perspectives for Alzheimer's.
Astrocytic interleukin-3 programs microglia and limits Alzheimer's disease.
Title: Astrocytic interleukin-3 programs microglia and limits Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (103)

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
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 modulates expression of the cytokines IL1beta, IL3, IL6, IL10, IL13, IL15, IFNbeta2A, IFNgamma, IFNomega, TNFalpha, VEGF, VEGF B, and LIF in PBMCs and MDMs	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
Tat	tat	HIV-1 Tat specifically associates with IL-3 promoter to upregulate IL-3 expression in T cells	PubMed
	tat	HIV-1 Tat upregulates IL-3 expression in vincristine-treated Kaposi's sarcoma cells, an effect involved in the activation of AKT kinase and that contributes to the anti-apoptotic effect of Tat	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

ECD10565 (e-PCR)
- UniSTS:291604

REN68694 (e-PCR)
- UniSTS:393494

REN68695 (e-PCR)
- UniSTS:393495

REN68696 (e-PCR)
- UniSTS:393496

REN68697 (e-PCR)
- UniSTS:393497

REN68698 (e-PCR)
- UniSTS:393498

REN68699 (e-PCR)
- UniSTS:393499

REN68700 (e-PCR)
- UniSTS:393500

REN68701 (e-PCR)
- UniSTS:393501

REN68702 (e-PCR)
- UniSTS:393502

REN68703 (e-PCR)
- UniSTS:393503

REN68704 (e-PCR)
- UniSTS:393504

REN68705 (e-PCR)
- UniSTS:393505

REN68706 (e-PCR)
- UniSTS:393506

REN68707 (e-PCR)
- UniSTS:393507

REN68708 (e-PCR)
- UniSTS:393508

REN68709 (e-PCR)
- UniSTS:393509

REN68710 (e-PCR)
- UniSTS:393510

REN68711 (e-PCR)
- UniSTS:393511

REN68712 (e-PCR)
- UniSTS:393512

REN68713 (e-PCR)
- UniSTS:393513

RH17672 (e-PCR)
- UniSTS:334

D5S2409 (e-PCR)
- UniSTS:95

NoName (e-PCR)
- UniSTS:481648

ECD14015 (e-PCR)
- UniSTS:295040

SHGC-132106 (e-PCR)
- UniSTS:170650

ECD09687 (e-PCR)
- UniSTS:290728

ECD01182 (e-PCR)
- UniSTS:282289

IL3_1962 (e-PCR)
- UniSTS:280783

ECD19506 (e-PCR)
- UniSTS:300511

ECD10008 (e-PCR)
- UniSTS:291048

G10621 (e-PCR)
- UniSTS:37366

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables interleukin-3 receptor binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway via STAT	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-cell signaling	TAS Traceable Author Statement more info	PubMed
involved_in embryonic hemopoiesis	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in interleukin-3-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: interleukin-3

Names: P-cell stimulating factor; colony-stimulating factor, multiple; hematopoietic growth factor; mast-cell growth factor; multilineage-colony-stimulating factor; multipotential colony-stimulating factor

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.