IL3 (interleukin-3)

1999-12-01 Jean-Loup Huret Affiliation

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC

IL3

LOCATION

5q31.1

LOCUSID

3562

ALIAS

IL-3,MCGF,MULTI-CSF

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

5 exons

Transcription

674 bp transcript with a 458 bp of coding sequence

Proteins

Description

152 amino acids; 17 kDa

Expression

IL3 is produced by activated T cells, monocytes/macrophages and stroma cells

Function

cytokine; multipotent hematopoietic growth factor; induces proliferation, maturation and probably self-renewal of pluripotent hematopoietic stem cells and cells of myeloid, erythroid and megakaryocytic lineages; IL-3 plays a more specialized role on basophil and mast cells; role through activation of the IL-3 receptor (IL-3R) complex consisting of alpha and beta subunits, which in turn induces activation of JAK2/ STAT5 , and induction of c-myc (cell-cycle progression and DNA synthesis), and activation of the Ras pathway (suppression of apoptosis); IL3 and GM-CSF have overlapping but distinct biological properties

Implicated in

Entity name

t(5;14)(q31;q32)

Disease

B-cell acute lymphoblastic leukemia (ALL) with hypereosinophilia

Prognosis

poor

Cytogenetics

t(5;14) may be the sole anomaly or accompanied with other anomalies

Hybrid gene

break in the promoter region of IL3 and in the Jh region of IgH

Fusion protein

the immunoglobulin gene promoter controls the expression of IL3

Oncogenesis

over-expression of IL3

Bibliography

Pubmed ID	Last Year	Title	Authors
9664156	1998	The physiologic role of interleukin-3, interleukin-5, granulocyte-macrophage colony-stimulating factor, and the beta c receptor system.	Burdach S et al
2499362	1989	The t(5;14) chromosomal translocation in a case of acute lymphocytic leukemia joins the interleukin-3 gene to the immunoglobulin heavy chain gene.	Grimaldi JC et al
8948019	1996	Function and signal transduction mediated by the interleukin 3 receptor system in hematopoiesis.	Hara T et al
10515681	1999	Interleukin-3 in hematology and oncology: current state of knowledge and future directions.	Mangi MH et al
7549890	1995	Regulation of granulocyte-macrophage colony-stimulating factor and interleukin 3 expression.	Nimer SD et al
3489530	1986	Human IL-3 (multi-CSF): identification by expression cloning of a novel hematopoietic growth factor related to murine IL-3.	Yang YC et al

Other Information

Locus ID:

NCBI: 3562
MIM: 147740
HGNC: 6011
Ensembl: ENSG00000164399

Variants:

dbSNP: 3562
ClinVar: 3562
TCGA: ENSG00000164399
COSMIC: IL3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000164399	ENST00000296870	P08700

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Cytokine-cytokine receptor interaction	KEGG	ko04060
Apoptosis	KEGG	ko04210
Jak-STAT signaling pathway	KEGG	ko04630
Hematopoietic cell lineage	KEGG	ko04640
Fc epsilon RI signaling pathway	KEGG	ko04664
Asthma	KEGG	ko05310
Cytokine-cytokine receptor interaction	KEGG	hsa04060
Apoptosis	KEGG	hsa04210
Jak-STAT signaling pathway	KEGG	hsa04630
Hematopoietic cell lineage	KEGG	hsa04640
Fc epsilon RI signaling pathway	KEGG	hsa04664
Asthma	KEGG	hsa05310
Transcriptional misregulation in cancer	KEGG	ko05202
Transcriptional misregulation in cancer	KEGG	hsa05202
PI3K-Akt signaling pathway	KEGG	hsa04151
PI3K-Akt signaling pathway	KEGG	ko04151
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Hemostasis	REACTOME	R-HSA-109582
Platelet activation, signaling and aggregation	REACTOME	R-HSA-76002
GPVI-mediated activation cascade	REACTOME	R-HSA-114604
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by GPCR	REACTOME	R-HSA-372790
GPCR downstream signaling	REACTOME	R-HSA-388396
G-protein beta:gamma signalling	REACTOME	R-HSA-397795
G beta:gamma signalling through PI3Kgamma	REACTOME	R-HSA-392451
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
RET signaling	REACTOME	R-HSA-8853659

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA165817016	Kidney Transplantation	Disease	ClinicalAnnotation	associated	PK
PA451578	tacrolimus	Chemical	ClinicalAnnotation	associated	PK

References

Pubmed ID	Year	Title	Citations
17703412	2007	Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.	100
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
25766237	2015	Interleukin-3 amplifies acute inflammation and is a potential therapeutic target in sepsis.	76
21262803	2011	Human IL-3/GM-CSF knock-in mice support human alveolar macrophage development and human immune responses in the lung.	74
14564341	2003	Biology of common beta receptor-signaling cytokines: IL-3, IL-5, and GM-CSF.	63
19730683	2009	The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.	59
14615378	2004	IL-3 expression by myeloma cells increases both osteoclast formation and growth of myeloma cells.	53
15878977	2005	IL-3 is a potential inhibitor of osteoblast differentiation in multiple myeloma.	49
14628073	2004	NOD/SCID mice engineered to express human IL-3, GM-CSF and Steel factor constitutively mobilize engrafted human progenitors and compromise human stem cell regeneration.	45
22515947	2012	Associations between pro- and anti-inflammatory cytokine genes and breast pain in women prior to breast cancer surgery.	45

Citation

Jean-Loup Huret

IL3 (interleukin-3)

Atlas Genet Cytogenet Oncol Haematol. 1999-12-01

Online version: http://atlasgeneticsoncology.org/gene/60/il3