IL3

Summary

IL3 (interleukin 3, HGNC:6011) is a protein-coding gene on chromosome 5q31.1, encoding Interleukin-3 (P08700). Cytokine secreted predominantly by activated T-lymphocytes as well as mast cells and osteoblastic cells that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells.

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.

Source: NCBI Gene 3562 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 22 total
• MANE Select transcript: NM_000588

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6011
Approved symbol	IL3
Name	interleukin 3
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Aliases	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399
Ensembl gene	ENSG00000164399
Ensembl biotype	protein_coding
OMIM	147740
Entrez	3562

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000296870

RefSeq mRNA: 1 — MANE Select: NM_000588 NM_000588

CCDS: CCDS4149

Canonical transcript exons

ENST00000296870 — 5 exons

Exon	Start	End
ENSE00001084061	132062312	132062401
ENSE00001084062	132062526	132062567
ENSE00001084064	132060967	132061008
ENSE00001124361	132062669	132063204
ENSE00001124369	132060655	132060868

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 77.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.5181 / max 7772.5406, expressed in 7 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58421	4.5181	7

Top tissues by expression

117 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
epithelium of bronchus	UBERON:0002031	77.68	gold quality
thymus	UBERON:0002370	64.92	silver quality
vastus lateralis	UBERON:0001379	59.82	gold quality
quadriceps femoris	UBERON:0001377	59.78	gold quality
cerebellar vermis	UBERON:0004720	57.59	gold quality
metanephric glomerulus	UBERON:0004736	55.97	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
endometrium epithelium	UBERON:0004811	46.85	gold quality
calcaneal tendon	UBERON:0003701	43.89	gold quality
bone marrow	UBERON:0002371	38.31	silver quality
granulocyte	CL:0000094	38.13	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
corpus callosum	UBERON:0002336	35.20	gold quality
lymph node	UBERON:0000029	34.64	silver quality
skeletal muscle tissue	UBERON:0001134	34.29	gold quality
right uterine tube	UBERON:0001302	33.60	gold quality
vermiform appendix	UBERON:0001154	33.28	silver quality
superior frontal gyrus	UBERON:0002661	32.79	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.77	gold quality
leukocyte	CL:0000738	31.04	gold quality
prefrontal cortex	UBERON:0000451	30.93	gold quality
sural nerve	UBERON:0015488	30.93	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-29	yes	38270.02
E-ANND-3	no	1.81

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, CEBPA, CEBPB, CEBPZ, CTCF, DNMT1, EGR1, EGR2, ELF1, ETS1, ETV6, FOS, FOXC2, GATA3, HR, JUN, JUNB, JUND, KCNIP3, MYC, NFATC1, NFATC2, NFIL3, NFKB, PITX2, POU1F1, POU2F1, POU2F2, REL, RUNX1, RUNX1T1, SMARCA5, SP1, STAT5A, TFAP2A, TXK, VEZF1, YY1, ZNF91

miRNA regulators (miRDB)

22 targeting IL3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-4286	97.20	64.37	1587
HSA-MIR-342-3P	96.44	67.48	1344
HSA-MIR-759	96.16	66.77	873
HSA-MIR-3914	94.91	65.77	643
HSA-MIR-4474-5P	94.23	67.95	568
HSA-MIR-6886-5P	91.08	63.10	105

Literature-anchored findings (GeneRIF, showing 40)

• binding kinetics of native IL-3 and several variants to IL-3 receptor (PMID:11700046)
• IL-3 induces MHC class II and B7.2 expression on eosinophils and renders them capable of supporting T cell proliferation to superantigen and antigen-derived peptides. (PMID:11714768)
• inhibition of signaling by antisense oligodeoxynucleotides targeting the common beta chain of receptors (PMID:11763346)
• ectopically expressed in myeloid leukemic cells with t(5;12)(q31;p13), suggesting that expression of IL3 was deregulated by the translocation, indicating a variant leukemogenic mechanism for translocations involving the 5’ end of ETV6 (PMID:11861295)
• Antiapoptotic cytokine IL-3 + SCF + FLT3L influence on proliferation of gamma-irradiated AC133+/CD34+ progenitor cells. (PMID:12002675)
• Monocytes cultured in the presence of IL-3 (plus IL-4) differentiate into dendritic cells that produce less IL-12 and shift T helper (Th) cell responses toward a Th2 cytokine pattern. (PMID:12055233)
• Data suggest that increased activity of mutated interleukin 3 is due to a change from a rare ligand to a common one, allowing the increase in IL-3-dependent signaling. (PMID:12093816)
• role in potentiating hematopoietic cell migration (PMID:12135758)
• The IL-3 gene is regulated by two enhancers that have distinct but overlapping tissue specificities. (PMID:12165512)
• WEHI-3B-derived IL-3 stimulation of mcl-1 gene transcription through the SIE motif involves phosphorylation of PU.1 at serine 142 by a p38(MAPK)-dependent pathway. (PMID:12612065)
• Incubation of eosinophils with IL-3 leads to reduced expression of IL-5R alpha which is sustained for up to 5 days; in contrast, expression of IL-3R alpha is increased by IL-3, whereas GM-CSF receptor alpha expression in eosinophils is unaffected by IL-3. (PMID:12759409)
• induces cell cycle progression via internal ribosome entry site-mediated translation of c-myc though the PI3K pathway in human factor-dependent leukemic cells (PMID:12855588)
• expression of alleles of the genes encoding IL-2, IL-3, IL-4, and IL-13 in CD4(+) T cell clones (PMID:12884288)
• IL-3 plays important roles in local eosinophil activation (PMID:12943658)
• Hematopoietin receptor superfamily. Comprised of cytokine-specific alpha chain and common beta chain for signaling. Contributes to differentiation and function of leukocytes. Protective immunity and pathophysiology of immunologic diseases. Review. (PMID:14564341)
• increased IL-3 levels in the bone marrow microenvironment of MM patients with imbalanced AML-1A and AML-1B expression can increase bone destruction and tumor cell growth. (PMID:14615378)
• long-term exposure of primitive human hematopoietic cells to elevated levels of human IL-3, GM-CSF and SF in vivo may deleteriously affect the stem cell compartment, while expanding terminal myelopoiesis. (PMID:14628073)
• ability of TGF-beta1 to polarize the differentiation of HPCs induced by IL-3 towards LC development, although IL-3 DCs were unable to form BGs partly because of their poor ability to induce Langerin. (PMID:14675189)
• positive immunostaining for IL-3 by TILs in ‘in situ’ breast cancers sustains the possibility that early in tumor development, IL-3 can contribute to the chronic immaturity of these vessels (PMID:14755254)
• Interleukin-3 binding to the human betac receptor involves functional epitopes formed by domains 1 and 4 of different protein chains (PMID:15060062)
• The IL3 regulates the growth and differentiation of hematopoietic progenitor cells and functionally activates mature neutrophils or macrophages. (PMID:15576295)
• Endogenous IL-3 is required to maintain the lymphatic endothelial cell (LEC) phenotype in culture, and the addition of IL-3 to dermal blood endothelial cells (BEC) appears to induce transdifferentiation of BEC into LEC. (PMID:15585837)
• CD45+ cells were required for the capacity of IL-3 to inhibit osteoblast differentiation. IL-3 plays a dual role in the bone destructive process in myeloma by both stimulating osteoclasts and indirectly inhibiting osteoblast formation (PMID:15878977)
• Multiple logistic regression revealed a significant association between the appearance of nucleated RBCs in the blood and erythropoietin, IL-3, IL-6, and age. (PMID:15988318)
• Expression of CD48 on human peripheral blood eosinophils is regulated by interleukin (IL)-3. (PMID:16785501)
• In this paper provide the evidence that multiple single nucleotide polymorphisms in and around interleukin 3 (IL3) are associated with the disease in the Irish. (PMID:17179997)
• IL-3 can not replace GM-CSF to induce the differentiation of human monocytes into Langerhans cells in culture (PMID:17273755)
• About 18% of Indian subjects studied showed non histamine-releaser phenotype & also had reduced Lyn & Syk kinase expression. Non-releasers have also shown less potent isoform of IL-3/P8, which is suspected to be responsible for non-releaser phenotype (PMID:17507237)
• IL-3 is a central inducer of CD69 expression, while antigen is an enhancing factor acting on basophils cooperatively with IL-3. (PMID:17541278)
• IL-3-induced upregulation of CD203c is a late event and is not accompanied by upregulation of CD63. (PMID:17624239)
• IL-3 up-regulates the expression of the antiapoptotic proteins cIAP2, Mcl-1, and Bcl-X(L) and induces a rapid and sustained de novo expression of the serine/threonine kinase Pim1 that closely correlates with cytokine-enhanced survival. (PMID:18768389)
• We found evidence of a joint effect between IL3 (rs31400) and DTNBP1 (PMID:18804346)
• IL-1beta and IL-3 stimulated endothelium induces proliferation and differentiation of myeloid precursors, while IL-6 treatment induced a benefit of HPC survival. (PMID:18826654)
• SNP rs40401 in the interleukin-3 gene was associated with risk of asthma (PMID:18829683)
• These data argue that the regulation of the IL-3 and the GM-CSF promoters depends on the positions of their enhancers relative to the conserved CTCF/cohesin-binding sites. (PMID:19158269)
• autocrine IL-3 activity resulting from low-level IgE/FcepsilonRI cross-linking by specific allergen represents an important mechanism behind the hyperreactive nature of basophils that has long been observed in allergic disease. (PMID:19201898)
• This study provides convincing evidence that the IL3 gene is a susceptibility locus for GD in the Chinese population. (PMID:19262575)
• Synergistic protecting effect of cord blood CD34+ cells over-expressing both interleukin-3 and Flt3 ligand on lethally irradiated mice. (PMID:19529981)
• IL-3 and oncogenic Abl regulate the myeloblast transcriptome by altering mRNA stability (PMID:19829692)
• The IL-3/GM-CSF locus undergoes progressive stages of activation, with stepwise increases in active modifications and the proportion of cytokine-expressing cells, throughout the course of T cell differentiation. (PMID:20147630)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Il3	ENSMUSG00000018914
rattus_norvegicus	Il3	ENSRNOG00000026786

Protein

Protein identifiers

Interleukin-3 — P08700 (reviewed: P08700)

Alternative names: Hematopoietic growth factor, Mast cell growth factor, Multipotential colony-stimulating factor, P-cell-stimulating factor

All UniProt accessions (1): P08700

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine secreted predominantly by activated T-lymphocytes as well as mast cells and osteoblastic cells that controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Also stimulates mature basophils, eosinophils, and monocytes to become functionally activated. In addition, plays an important role in neural cell proliferation and survival. Participates as well in bone homeostasis and inhibits osteoclast differentiation by preventing NF-kappa-B nuclear translocation and activation. Mechanistically, exerts its biological effects through a receptor composed of IL3RA subunit and a signal transducing subunit IL3RB. Receptor stimulation results in the rapid activation of JAK2 kinase activity leading to STAT5-mediated transcriptional program. Alternatively, contributes to cell survival under oxidative stress in non-hematopoietic systems by activating pathways mediated by PI3K/AKT and ERK.

Subunit / interactions. Interacts with IL3RA.

Subcellular location. Secreted.

Tissue specificity. Activated T-cells, mast cells, natural killer cells.

Induction. Upon activation of the T-cell receptor/CD3 pathway and can be augmented by coactivation of the CD3 and CD28 pathways.

Similarity. Belongs to the IL-3 family.

RefSeq proteins (1): NP_000579* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002183	IL-3	Family
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily

Pfam: PF02059

UniProt features (18 total): helix 8, sequence variant 4, glycosylation site 2, signal peptide 1, chain 1, strand 1, disulfide bond 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
5UWC	X-RAY DIFFRACTION	2.4
5UV8	X-RAY DIFFRACTION	2.7
6NMY	X-RAY DIFFRACTION	3.3
1JLI	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P08700-F1	83.59	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (1): 35–103

Glycosylation sites (2): 34, 89

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-512988	Interleukin-3, Interleukin-5 and GM-CSF signaling
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-8939247	RUNX1 regulates transcription of genes involved in interleukin signaling
R-HSA-912526	Interleukin receptor SHC signaling

MSigDB gene sets: 129 (showing top): REACTOME_INTERLEUKIN_2_FAMILY_SIGNALING, MODULE_92, GOBP_EMBRYONIC_HEMOPOIESIS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, HOFMANN_CELL_LYMPHOMA_UP, MODULE_45, GOMF_GROWTH_FACTOR_ACTIVITY, RACCACAR_AML_Q6, KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY, GOBP_CELL_CELL_SIGNALING, RAY_ALZHEIMERS_DISEASE, AML_Q6, MORF_IL4, KEGG_ASTHMA

GO Biological Process (7): immune response (GO:0006955), cell-cell signaling (GO:0007267), nervous system development (GO:0007399), positive regulation of cell population proliferation (GO:0008284), embryonic hemopoiesis (GO:0035162), interleukin-3-mediated signaling pathway (GO:0038156), cell surface receptor signaling pathway via STAT (GO:0097696)

GO Molecular Function (4): cytokine activity (GO:0005125), interleukin-3 receptor binding (GO:0005135), growth factor activity (GO:0008083), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Signaling by Interleukins	1
MAPK1/MAPK3 signaling	1
Transcriptional regulation by RUNX1	1
Interleukin-2 family signaling	1
Interleukin-3, Interleukin-5 and GM-CSF signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
receptor ligand activity	2
immune system process	1
response to stimulus	1
cell communication	1
signaling	1
system development	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
hemopoiesis	1
embryonic organ development	1
cytokine-mediated signaling pathway	1
cell surface receptor signaling pathway	1
cytokine receptor binding	1
growth factor receptor binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL3	IL5	P05113	999
IL3	CSF2	P04141	998
IL3	IL6	P05231	998
IL3	IL3RA	P26951	997
IL3	KITLG	P21583	996
IL3	IL2	P01585	995
IL3	IL1A	P01583	994
IL3	IL7	P13232	988
IL3	CSF2RB	P32927	984
IL3	IFNG	P01579	981
IL3	IL1B	P01584	976
IL3	IL4	P05112	972
IL3	THPO	P40225	971
IL3	FLT3LG	P49771	968
IL3	IL5RA	Q01344	966

IntAct

7 interactions, top by confidence:

A	B	Type	Score
IL3	IL3RA	psi-mi:“MI:0407”(direct interaction)	0.610
IL3	IL3RA	psi-mi:“MI:0915”(physical association)	0.610
CSF2RB	IL3	psi-mi:“MI:0915”(physical association)	0.590

BioGRID (8): IL3RA (Reconstituted Complex), CSF2RB (Reconstituted Complex), IL3RA (Reconstituted Complex), IL3 (Affinity Capture-Western), IL3 (Negative Genetic), S100P (Reconstituted Complex), S100A6 (Reconstituted Complex), IL3 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LIA7, B6CKP4, O02720, O02750, O08987, O42164, P04141, P04401, P05113, P08700, P20109, P35225, P41159, P41160, P42203, P46652, P46685, P47966, P48093, P50595, P50596, P51492, P51748, P61126, Q0MUT8, Q1XG29, Q257X2, Q28504, Q28603, Q28809, Q29406, Q4KM46, Q588G0, Q5I6E4, Q5J732, Q62575, Q6EBC2, Q706D0, Q706D1, Q864V6

Diamond homologs: P06740, P08700, P25140, P49875, P51445, Q28334, Q28809, Q9BDX4, P01586, P04823, Q06435

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
IL3	up-regulates	IL3RA	binding
IL3	up-regulates	NFIL3
NFIL3	“up-regulates quantity by expression”	IL3	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

22 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

260 predictions. Top by Δscore:

Variant	Effect	Δscore
5:132060865:GCTG:G	donor_gain	1.0000
5:132060867:TGGT:T	donor_loss	1.0000
5:132060868:GGT:G	donor_loss	1.0000
5:132060869:G:GG	donor_gain	1.0000
5:132060869:GTGA:G	donor_loss	1.0000
5:132060870:T:A	donor_loss	1.0000
5:132060957:A:AG	acceptor_gain	1.0000
5:132060958:C:G	acceptor_gain	1.0000
5:132061005:GATG:G	donor_gain	1.0000
5:132061006:ATGG:A	donor_loss	1.0000
5:132061007:TGGT:T	donor_loss	1.0000
5:132061009:G:GG	donor_gain	1.0000
5:132061010:T:A	donor_loss	1.0000
5:132062402:G:GG	donor_gain	1.0000
5:132062520:CCACA:C	acceptor_loss	1.0000
5:132062521:CACAG:C	acceptor_loss	1.0000
5:132062522:A:AG	acceptor_gain	1.0000
5:132062522:ACAG:A	acceptor_loss	1.0000
5:132062523:C:G	acceptor_gain	1.0000
5:132062523:CA:C	acceptor_loss	1.0000
5:132062524:A:AG	acceptor_gain	1.0000
5:132062524:AGA:A	acceptor_loss	1.0000
5:132062525:G:GA	acceptor_gain	1.0000
5:132062525:GA:G	acceptor_gain	1.0000
5:132062525:GAA:G	acceptor_gain	1.0000
5:132062525:GAAT:G	acceptor_gain	1.0000
5:132062525:GAATC:G	acceptor_gain	1.0000
5:132062565:ACGG:A	donor_loss	1.0000
5:132062566:CGGTA:C	donor_loss	1.0000
5:132062568:G:GG	donor_gain	1.0000

AlphaMissense

996 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:132062345:T:C	F80L	0.987
5:132062347:C:A	F80L	0.987
5:132062347:C:G	F80L	0.987
5:132062708:T:C	F126L	0.987
5:132062710:C:A	F126L	0.987
5:132062710:C:G	F126L	0.987
5:132062346:T:C	F80S	0.984
5:132062346:T:G	F80C	0.979
5:132062721:T:C	L130P	0.977
5:132062709:T:C	F126S	0.975
5:132062709:T:G	F126C	0.973
5:132062733:T:C	L134P	0.972
5:132062335:C:A	N76K	0.956
5:132062335:C:G	N76K	0.956
5:132062729:T:G	Y133D	0.951
5:132062337:T:C	L77P	0.949
5:132061004:T:A	L67Q	0.945
5:132062397:T:C	L97P	0.945
5:132062719:A:C	K129N	0.945
5:132062719:A:T	K129N	0.945
5:132061004:T:C	L67P	0.942
5:132062354:G:C	A83P	0.937
5:132062726:T:C	F132L	0.934
5:132062728:C:A	F132L	0.934
5:132062728:C:G	F132L	0.934
5:132062538:T:C	C103R	0.930
5:132060843:T:C	L46S	0.928
5:132062540:T:G	C103W	0.926
5:132062729:T:A	Y133N	0.916
5:132062538:T:A	C103S	0.915

dbSNP variants (sampled 300 via entrez): RS1000713225 (5:132063661 C>G,T), RS1000804382 (5:132062077 T>C,G), RS1001370980 (5:132059918 C>T), RS1002829898 (5:132061101 G>A), RS1004216673 (5:132063318 G>A), RS1004938869 (5:132059586 G>A), RS1005826080 (5:132061745 A>C), RS1006145748 (5:132063546 C>T), RS1006349639 (5:132058689 T>C), RS1006383107 (5:132060315 G>A), RS1006414538 (5:132060567 C>T), RS1007384503 (5:132061521 T>A), RS1008403306 (5:132062942 A>G), RS1008912531 (5:132058816 G>T), RS1009886235 (5:132059962 G>A)

Disease associations

OMIM: gene MIM:147740 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000879_15	Crohn’s disease	1.000000e-20
GCST001438_16	Crohn’s disease	4.000000e-08
GCST001725_83	Inflammatory bowel disease	1.000000e-52
GCST002318_39	Rheumatoid arthritis	8.000000e-07
GCST002318_72	Rheumatoid arthritis	6.000000e-06
GCST004131_32	Inflammatory bowel disease	4.000000e-27
GCST004132_10	Crohn’s disease	6.000000e-36
GCST004133_36	Ulcerative colitis	2.000000e-06
GCST004864_32	Perceived unattractiveness to mosquitoes	1.000000e-09
GCST006959_100	Rheumatoid arthritis	8.000000e-06
GCST006959_123	Rheumatoid arthritis	1.000000e-06
GCST008158_136	Body mass index	9.000000e-06
GCST010701_41	Cortical surface area (MOSTest)	1.000000e-20
GCST010702_96	Subcortical volume (MOSTest)	2.000000e-08
GCST010703_160	Brain morphology (MOSTest)	3.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008380	perceived unattractiveness to mosquitos measurement
EFO:0004340	body mass index
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs181781	Metabolism/PK	3	tacrolimus	Kidney Transplantation

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs181781	IL3	3	2.25	1	tacrolimus

CTD chemical–gene interactions

38 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	2
Wortmannin	affects cotreatment, decreases reaction, increases expression, increases phosphorylation, decreases expression	2
Mustard Gas	increases secretion, affects expression, affects reaction	2
Zinc	affects binding, affects cotreatment, affects expression	2
fluorene-9-bisphenol	decreases expression	1
TL8-506	affects cotreatment, increases secretion	1
alclometasone dipropionate	decreases expression	1
4-hydroxy-2-nonenal	decreases expression	1
oxophenylarsine	decreases expression, decreases reaction	1
emamectin benzoate	increases expression	1
10-(octyloxy)decyl-2-(trimethylammonium)ethyl phosphate	affects cotreatment, decreases reaction, increases expression, increases phosphorylation	1
(+)-JQ1 compound	decreases expression	1
Acetaminophen	increases expression	1
Acetylcysteine	decreases reaction, increases expression	1
Adrenal Cortex Hormones	decreases reaction, increases expression	1
Ethanol	increases expression	1
Aspartame	decreases expression	1
Beclomethasone	decreases reaction, increases expression, increases secretion	1
Benzo(a)pyrene	increases methylation	1
Betamethasone Valerate	decreases expression	1
Dexamethasone	decreases expression	1
Dust	increases expression	1
Hydralazine	affects cotreatment, decreases expression	1
Menthol	decreases expression	1
Methotrexate	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Poly I-C	affects cotreatment, increases secretion	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Dronabinol	increases expression	1
Theophylline	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.