IL9
gene geneOn this page
Also known as IL-9HP40P40
Summary
IL9 (interleukin 9, HGNC:6029) is a protein-coding gene on chromosome 5q31.1, encoding Interleukin-9 (P15248). Multifunctional cytokine secreted mainly by T-helper 2 lymphocytes and also mast cells or NKT cells that plays important roles in the immune response against parasites.
The protein encoded by this gene is a cytokine that acts as a regulator of a variety of hematopoietic cells. This cytokine stimulates cell proliferation and prevents apoptosis. It functions through the interleukin 9 receptor (IL9R), which activates different signal transducer and activator (STAT) proteins and thus connects this cytokine to various biological processes. The gene encoding this cytokine has been identified as a candidate gene for asthma. Genetic studies on a mouse model of asthma demonstrated that this cytokine is a determining factor in the pathogenesis of bronchial hyperresponsiveness.
Source: NCBI Gene 3578 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 24 total
- Druggable target: yes
- MANE Select transcript:
NM_000590
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6029 |
| Approved symbol | IL9 |
| Name | interleukin 9 |
| Location | 5q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IL-9, HP40, P40 |
| Ensembl gene | ENSG00000145839 |
| Ensembl biotype | protein_coding |
| OMIM | 146931 |
| Entrez | 3578 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000274520
RefSeq mRNA: 1 — MANE Select: NM_000590
NM_000590
CCDS: CCDS4189
Canonical transcript exons
ENST00000274520 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000972566 | 135895703 | 135895841 |
| ENSE00000972567 | 135895555 | 135895590 |
| ENSE00000972568 | 135895440 | 135895472 |
| ENSE00000972569 | 135894020 | 135894151 |
| ENSE00000972570 | 135892246 | 135892510 |
Expression profiles
Bgee: expression breadth broad, 74 present calls, max score 67.79.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 14.3341 / max 1804.1338, expressed in 35 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 63563 | 14.3341 | 35 |
Top tissues by expression
230 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial nerve | UBERON:0001323 | 67.79 | gold quality |
| sural nerve | UBERON:0015488 | 57.13 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 55.97 | gold quality |
| buccal mucosa cell | CL:0002336 | 52.58 | gold quality |
| oocyte | CL:0000023 | 50.62 | 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 |
| amygdala | UBERON:0001876 | 49.88 | gold quality |
| metanephros cortex | UBERON:0010533 | 49.41 | gold quality |
| cerebellar vermis | UBERON:0004720 | 49.25 | gold quality |
| metanephros | UBERON:0000081 | 47.85 | gold quality |
| caudate nucleus | UBERON:0001873 | 46.95 | gold quality |
| endometrium epithelium | UBERON:0004811 | 46.85 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 46.53 | gold quality |
| right frontal lobe | UBERON:0002810 | 46.41 | gold quality |
| substantia nigra | UBERON:0002038 | 45.54 | gold quality |
| temporal lobe | UBERON:0001871 | 45.41 | gold quality |
| primary visual cortex | UBERON:0002436 | 45.10 | silver quality |
| quadriceps femoris | UBERON:0001377 | 44.83 | gold quality |
| midbrain | UBERON:0001891 | 44.83 | gold quality |
| putamen | UBERON:0001874 | 44.43 | gold quality |
| frontal cortex | UBERON:0001870 | 44.33 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 44.20 | gold quality |
| neocortex | UBERON:0001950 | 44.11 | gold quality |
| Ammon’s horn | UBERON:0001954 | 44.02 | gold quality |
| vastus lateralis | UBERON:0001379 | 43.87 | gold quality |
| occipital lobe | UBERON:0002021 | 43.81 | silver quality |
| anterior cingulate cortex | UBERON:0009835 | 43.80 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.14 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): BCL6, EP300, EZH2, FOXC1, FOXO1, FOXP3, GATA1, H4C2, IRF4, JUNB, MYC, NFATC2, NFKB1, NFKB, RBPJ, REL, RELA, SMAD2, SMAD3, SPI1, STAT5A, STAT5B, STAT6, THAP9
miRNA regulators (miRDB)
14 targeting IL9, 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-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-3617-5P | 99.75 | 69.41 | 1968 |
| HSA-MIR-641 | 99.75 | 69.35 | 1975 |
| HSA-MIR-7161-5P | 99.68 | 68.92 | 1592 |
| HSA-MIR-891B | 99.59 | 69.81 | 1083 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-29A-5P | 99.08 | 68.59 | 1813 |
Literature-anchored findings (GeneRIF, showing 40)
- HCLCA1 is strongly related to IL-9 expression and mucus production in bronchial epithelium of patients with asthma (PMID:11842292)
- IL-9 inhibition of oxidative burst and TNF-alpha release in lipopolysaccharide-stimulated monocytes involves the potentiation of TGF-beta 1 production and extracellular signal-regulated kinase inhibition. (PMID:11937570)
- IL-9 can potentiate human megakaryocytopoiesis in the presence of Epo and/or SCF (PMID:12482498)
- airway smooth muscle is a target for IL-9 and that IL-9 amplifies the potential for these cells to recruit eosinophils and neutrophils into the airways by a mechanism involving ERK. (PMID:12588703)
- IL-9 induced goblet cell hyperplasia during repair of human airway epithelia. (PMID:12594054)
- IL-9 appears to act as a potent enhancer for the SCF-dependent growth of mast cell progenitors in humans, particularly asthmatic patients. (PMID:12646606)
- Segmental allergen challenge in patients with atopic asthma leads to increased IL-9 expression in bronchoalveolar lavage fluid lymphocytes. (PMID:12789235)
- expression of IL-9 protein and mRNA in bronchi of patients with nasal polyposis (PMID:15007348)
- Genetic cross of IL-9-transgenic mice with X-linked immunodeficient (xid) mice generates xid mice that have normal B-1 cell numbers because of a specific expansion of CD5-negative B-1b cells. (PMID:15128795)
- Induction of IL-9 is associated with pathogenesis of EBV-associated T-cell diseases (PMID:15289339)
- IL-9 and its receptor have roles in cell growth and malignant transformation of lymphoid cells associated with constitutive activation of the Jak/STAT pathway [review] (PMID:15621723)
- Neutralization of IL-9, a susceptible factor in BALB/c mice with Leishmania major infection, results in a reduction of detrimental T helper (Th) cell type 2 responses with an observed shift toward protective Th1/type 1 immune responses. (PMID:15699153)
- High interleukin-9 ;evelis asociated with nasal natural killer/T-cell lymphoma (PMID:16322282)
- IL-9/Jak3 signaling plays a significant role in the pathogenesis of ALK+ anaplastic large-cell lymphoma (PMID:16763206)
- Ragweed stimulation significantly increased the production of the Th2-associated cytokines IL-5, IL-9 and IL-13, the chemokines CCL17 and CCL22 and the regulatory cytokine IL-10 in allergic patients (PMID:17517104)
- Synthesis of IL-9, a Th2 cytokine, is dependent on IL-2, a Th1 cytokine, which is produced by Th cells themselves. (PMID:17541281)
- increased expression of IL-9 may contribute to the development of tuberculosis (PMID:18032114)
- primary ATL cells, via IL-9, support the action of IL-9Ralpha/CD14-expressing monocytes, which subsequently support the ex vivo spontaneous proliferation of malignant T cells (PMID:18339896)
- House dust mite extract induces interleukin-9 expression in human eosinophils. (PMID:18349591)
- Coincubation with IL-9 or IL-13 was protective against this corticosteroid-induced apoptosis by up-regulation of Bcl-2 (PMID:19005922)
- Individuals carrying the A allele of the IL-9 promoter display increased synthesis of IL-9, which may result in strong Th2 immune responses and a modulation of their susceptibility to infectious, neoplastic, parasitic or atopic disease. (PMID:19387455)
- IL9 single-nucleotide polymorphism is asociated with lung function and polysensitization. (PMID:19536153)
- Investigation of IL-9-producing CD4(+)T cells, and elucidation of the mechanisms of IL-9-induced STATs signaling, in concert with other transcription factors, will provide a better understanding of the pathogenesis of various autoimmune diseases–REVIEW (PMID:20020328)
- These studies indicate differential involvement of the IL-9/IL-9R pathway in systemic and oral antigen-induced anaphylaxis. (PMID:20159257)
- serum levels are associated with severity of rhinorrhea in allergic rhinitis patients (PMID:20306823)
- The interaction of 6-locus from the 5 interleukin genes might confer higher risk for graves’disease and Graves’ophthalmopathy than single risk allele. (PMID:20332709)
- After initial differentiation of naive cells, IL-9 expression by human T helper type (Th)17 cells is acquired as a late event, suggesting that IL-9 and IL-17 can, in fact, be coexpressed by the same cell in humans. (PMID:20498357)
- the IL-9 genetic polymorphism (rs2069885) has an opposite effect on the risk of severe respiratory syncytial virus bronchiolitis in boys and girls. (PMID:20503287)
- data clearly demonstrate the central function of interferon regulatory factor 4 in the development of T helper 9 cells and underline the contribution of this T helper cell subset to the pathogenesis of asthma. (PMID:20674401)
- Serum IL-9 levels may depend on allergen exposure: symptomatic patients with pollen-induced allergic rhinitis (AR), evaluated during the pollen season, have higher values than patients studied outside the pollen season and without symptoms. (PMID:20861646)
- results demonstrate a previously unappreciated role for IL-9 in dampening the pathogenic activities of Th17 cells (PMID:21360526)
- analysis of IL-9 and IL-9 receptor gene polymorphisms and atopic dermatitis in a Korean population (PMID:21371865)
- The increase of plasma IL-9, and the decrease of plasma IL-5, IL-7 and IFN-gamma may contribute to get further insights into the inflammatory pathways involved in chronic heart failure. (PMID:21418620)
- TAK1-c-Rel and IRF4 pathways play distinct roles in the maintenance of IL-9-producing Th17 phenotype of HTLV-1-transformed cells (PMID:21498517)
- IL-33 can initiate IL-9 protein secretion in vitro in human CD4+ T cells and basophils. (PMID:21765905)
- Serum IL-9 level was increased in patients with systemic sclerosis, and was associated with lower frequency and severity of pulmonary fibrosis in systemic sclerosis. (PMID:21807780)
- contributes to immunosuppression mediated by regulatory T cells and mast cells in B-cell non-hodgkin’s lymphoma (PMID:21898141)
- Children with atopic dermatitis may have higher serum IL-9 levels than healthy children, and IL-9 levels are significantly related to symptom severity. (PMID:22612419)
- Higher numbers of TH9 cells occur in normal human skin & blood vs metastatic lesions of progressive stage IV melanoma. These results suggest a role for IL-9 in tumor immunity. (PMID:22772464)
- Results suggest a lack of participation of IL-9 in human liver allograft rejection. (PMID:22841205)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il9 | ENSMUSG00000021538 |
| rattus_norvegicus | Il9 | ENSRNOG00000012131 |
Protein
Protein identifiers
Interleukin-9 — P15248 (reviewed: P15248)
Alternative names: Cytokine P40, T-cell growth factor P40
All UniProt accessions (1): P15248
UniProt curated annotations — full annotation on UniProt →
Function. Multifunctional cytokine secreted mainly by T-helper 2 lymphocytes and also mast cells or NKT cells that plays important roles in the immune response against parasites. Affects intestinal epithelial permeability and adaptive immunity. In addition, induces the differentiation of specific T-cell subsets such as IL-17 producing helper T-cells (TH17) and also proliferation and differentiation of mast cells. Mechanistically, exerts its biological effects through a receptor composed of IL9R subunit and a signal transducing subunit IL2RG. Receptor stimulation results in the rapid activation of JAK1 and JAK3 kinase activities leading to STAT1, STAT3 and STAT5-mediated transcriptional programs. Induction of differentiation genes seems to be mediated by STAT1 alone, while protection of cells from apoptosis depends on STAT3 and STAT5.
Subunit / interactions. Interacts with IL9R. Interacts with IL2RG.
Subcellular location. Secreted.
Similarity. Belongs to the IL-7/IL-9 family.
RefSeq proteins (1): NP_000581* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR018049 | IL-7/IL-9_CS | Conserved_site |
| IPR020447 | IL-9 | Family |
UniProt features (20 total): helix 8, strand 4, glycosylation site 4, signal peptide 1, chain 1, modified residue 1, sequence variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OX3 | X-RAY DIFFRACTION | 1.7 |
| 7OX1 | X-RAY DIFFRACTION | 2.49 |
| 7OX5 | X-RAY DIFFRACTION | 3.09 |
| 7OX2 | X-RAY DIFFRACTION | 3.34 |
| 7OX6 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P15248-F1 | 84.82 | 0.48 |
Antibody-complex structures (SAbDab): 3 — 7OX1, 7OX2, 7OX3
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 19
Glycosylation sites (4): 50, 63, 78, 114
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8985947 | Interleukin-9 signaling |
MSigDB gene sets: 157 (showing top):
REACTOME_INTERLEUKIN_2_FAMILY_SIGNALING, MODULE_92, FUNG_IL2_SIGNALING_2, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, MODULE_64, GOBP_GROWTH, GOBP_B_CELL_PROLIFERATION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_B_CELL_MEDIATED_IMMUNITY
GO Biological Process (10): inflammatory response (GO:0006954), positive regulation of cell population proliferation (GO:0008284), immunoglobulin mediated immune response (GO:0016064), B cell differentiation (GO:0030183), positive regulation of cell growth (GO:0030307), positive regulation of interleukin-5 production (GO:0032754), interleukin-9-mediated signaling pathway (GO:0038113), B cell proliferation (GO:0042100), regulation of receptor signaling pathway via JAK-STAT (GO:0046425), immune response (GO:0006955)
GO Molecular Function (4): cytokine activity (GO:0005125), interleukin-9 receptor binding (GO:0005140), growth factor activity (GO:0008083), cytokine receptor binding (GO:0005126)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interleukin-2 family signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of cellular process | 2 |
| B cell activation | 2 |
| receptor ligand activity | 2 |
| defense response | 1 |
| cell population proliferation | 1 |
| regulation of cell population proliferation | 1 |
| B cell mediated immunity | 1 |
| lymphocyte differentiation | 1 |
| regulation of cell growth | 1 |
| cell growth | 1 |
| positive regulation of growth | 1 |
| positive regulation of cytokine production | 1 |
| interleukin-5 production | 1 |
| regulation of interleukin-5 production | 1 |
| cytokine-mediated signaling pathway | 1 |
| cellular response to interleukin-9 | 1 |
| lymphocyte proliferation | 1 |
| cell surface receptor signaling pathway via JAK-STAT | 1 |
| regulation of receptor signaling pathway via STAT | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cytokine receptor binding | 1 |
| growth factor receptor binding | 1 |
| signaling receptor binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1584 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL9 | IL7 | P13232 | 997 |
| IL9 | IL4 | P05112 | 996 |
| IL9 | JAK3 | P52333 | 993 |
| IL9 | IL5 | P05113 | 991 |
| IL9 | IL6 | P05231 | 990 |
| IL9 | IL2 | P01585 | 987 |
| IL9 | IL2RG | P31785 | 986 |
| IL9 | IL15 | P40933 | 977 |
| IL9 | IL9R | Q01113 | 968 |
| IL9 | IL10 | P22301 | 959 |
| IL9 | JAK1 | P23458 | 939 |
| IL9 | IL13 | P35225 | 932 |
| IL9 | IL1B | P01584 | 912 |
| IL9 | IL3 | P08700 | 901 |
| IL9 | CCL11 | P50877 | 898 |
IntAct
0 interactions, top by confidence:
BioGRID (4): S100P (Reconstituted Complex), IL9 (Affinity Capture-MS), S100A6 (Reconstituted Complex), IL9 (Protein-peptide)
ESM2 similar proteins: A3QPB9, B0ZE70, B3F0J0, C8AW45, O62757, O77762, O97687, P05113, P07750, P10168, P11052, P13232, P15247, P15248, P20096, P20826, P28773, P40221, P40933, P46685, P48092, P48093, P48346, P55030, P60568, P60569, P68290, P68291, P97604, Q1WM29, Q28028, Q29615, Q3S4V6, Q3Y5G8, Q4GZL1, Q4U0U2, Q5WQV8, Q6EAL8, Q6EBC2, Q75SZ9
Diamond homologs: P15247, P15248
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL9 | up-regulates | IL2RG | binding |
| IL9 | up-regulates | IL9R | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
566 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:135894018:A:AC | donor_gain | 1.0000 |
| 5:135894019:C:CC | donor_gain | 1.0000 |
| 5:135894019:CTGGA:C | donor_gain | 1.0000 |
| 5:135895553:A:AC | donor_gain | 1.0000 |
| 5:135895554:C:CC | donor_gain | 1.0000 |
| 5:135895697:GCCTA:G | donor_loss | 1.0000 |
| 5:135895698:CCTA:C | donor_loss | 1.0000 |
| 5:135895699:CTAC:C | donor_loss | 1.0000 |
| 5:135895700:TACC:T | donor_loss | 1.0000 |
| 5:135895701:A:T | donor_loss | 1.0000 |
| 5:135892506:AAATA:A | acceptor_gain | 0.9900 |
| 5:135892507:AATA:A | acceptor_gain | 0.9900 |
| 5:135892508:ATA:A | acceptor_gain | 0.9900 |
| 5:135892509:TA:T | acceptor_gain | 0.9900 |
| 5:135892511:C:CC | acceptor_gain | 0.9900 |
| 5:135894013:AACT:A | donor_loss | 0.9900 |
| 5:135894014:ACTTA:A | donor_loss | 0.9900 |
| 5:135894015:CTTAC:C | donor_loss | 0.9900 |
| 5:135894016:T:TC | donor_loss | 0.9900 |
| 5:135894017:TAC:T | donor_loss | 0.9900 |
| 5:135894018:A:G | donor_loss | 0.9900 |
| 5:135894019:C:A | donor_loss | 0.9900 |
| 5:135894020:TGGA:T | donor_gain | 0.9900 |
| 5:135894364:T:TA | donor_gain | 0.9900 |
| 5:135895702:CCTG:C | donor_gain | 0.9900 |
| 5:135892508:ATAC:A | acceptor_loss | 0.9800 |
| 5:135892509:TAC:T | acceptor_loss | 0.9800 |
| 5:135892510:AC:A | acceptor_loss | 0.9800 |
| 5:135892511:C:A | acceptor_loss | 0.9800 |
| 5:135894019:CT:C | donor_gain | 0.9800 |
AlphaMissense
952 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:135892454:A:C | F124L | 0.895 |
| 5:135892454:A:T | F124L | 0.895 |
| 5:135892456:A:G | F124L | 0.895 |
| 5:135892505:A:C | F107L | 0.877 |
| 5:135892505:A:T | F107L | 0.877 |
| 5:135892507:A:G | F107L | 0.877 |
| 5:135892506:A:C | F107C | 0.871 |
| 5:135892443:A:G | L128P | 0.849 |
| 5:135894063:C:G | R91P | 0.847 |
| 5:135894025:A:G | C104R | 0.835 |
| 5:135894024:C:G | C104S | 0.812 |
| 5:135894025:A:T | C104S | 0.812 |
| 5:135895756:A:G | C21R | 0.807 |
| 5:135895755:C:G | C21S | 0.803 |
| 5:135895756:A:T | C21S | 0.803 |
| 5:135895721:G:C | F32L | 0.801 |
| 5:135895721:G:T | F32L | 0.801 |
| 5:135895723:A:G | F32L | 0.801 |
| 5:135892452:A:G | L125P | 0.798 |
| 5:135895719:A:G | L33P | 0.796 |
| 5:135894128:G:C | F69L | 0.786 |
| 5:135894128:G:T | F69L | 0.786 |
| 5:135894130:A:G | F69L | 0.786 |
| 5:135895719:A:T | L33H | 0.781 |
| 5:135892430:G:C | F132L | 0.776 |
| 5:135892430:G:T | F132L | 0.776 |
| 5:135892432:A:G | F132L | 0.776 |
| 5:135894048:A:T | V96D | 0.761 |
| 5:135892455:A:C | F124C | 0.748 |
| 5:135894023:A:C | C104W | 0.748 |
dbSNP variants (sampled 300 via entrez): RS1000023571 (5:135897232 A>G), RS1000075986 (5:135896870 G>A,C,T), RS1000686176 (5:135895439 C>G), RS1001083456 (5:135895619 T>C), RS1001536097 (5:135893611 CCAAAA>C,CCAAAACAAAA), RS1001640500 (5:135891990 C>T), RS1001722490 (5:135892823 T>A,C), RS1002942458 (5:135891882 C>T), RS1003253134 (5:135893793 G>C), RS1003715175 (5:135893553 A>G), RS1003974175 (5:135896698 G>A,T), RS1004009276 (5:135897580 G>C,T), RS1004026347 (5:135896403 T>A,C), RS1004980868 (5:135895080 A>G), RS1006350031 (5:135896046 A>G)
Disease associations
OMIM: gene MIM:146931 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004689_1 | Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (continuous) | 7.000000e-08 |
| GCST004690_1 | Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (dichotomous) | 6.000000e-08 |
| GCST006585_2664 | Blood protein levels | 5.000000e-07 |
| GCST006992_1 | Cerebrospinal fluid p-tau levels in Alzheimer’s disease dementia | 8.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008307 | tuberculin skin test reactivity measurement |
| EFO:0008322 | decreased susceptibility to bacterial infection |
| EFO:0004763 | p-tau measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3712932 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2069885 | IL9 | 0.00 | 0 |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | increases expression, increases methylation, decreases expression | 3 |
| Lipopolysaccharides | increases expression, increases secretion, decreases reaction | 2 |
| Nickel | increases expression | 2 |
| tributyltin | affects cotreatment, increases secretion | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| 3-chlorophenol | increases expression | 1 |
| emamectin benzoate | increases expression | 1 |
| lipopolysaccharide, E coli O55-B5 | increases secretion | 1 |
| brevetoxin 2 | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | increases methylation | 1 |
| Atrazine | increases expression | 1 |
| Latex | increases expression | 1 |
| Mustard Gas | decreases expression | 1 |
| Nicotine | decreases expression | 1 |
| Perfume | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Triclosan | decreases reaction, increases expression | 1 |
| Zinc | decreases expression | 1 |
| 2-Naphthylamine | decreases expression | 1 |
| Ionomycin | affects reaction, increases expression, increases reaction, affects cotreatment, decreases reaction (+1 more) | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| tert-Butylhydroperoxide | decreases expression | 1 |
| Particulate Matter | increases phosphorylation, affects reaction, decreases expression, increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8IJ | Abcam HCT 116 IL9 KO | Cancer cell line | Male |
| CVCL_B9KT | Abcam A-549 IL9 KO | Cancer cell line | Male |
| CVCL_D2FV | Abcam MCF-7 IL9 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.