IL19
geneOn this page
Also known as IL-19MDA1ZMDA1IL-10CNG.1
Summary
IL19 (interleukin 19, HGNC:5990) is a protein-coding gene on chromosome 1q32.1, encoding Interleukin-19 (Q9UHD0). Cytokine that functions as an anti-inflammatory and proangiogenic factor.
The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described.
Source: NCBI Gene 29949 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 45 total
- MANE Select transcript:
NM_153758
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5990 |
| Approved symbol | IL19 |
| Name | interleukin 19 |
| Location | 1q32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IL-19, MDA1, ZMDA1, IL-10C, NG.1 |
| Ensembl gene | ENSG00000142224 |
| Ensembl biotype | protein_coding |
| OMIM | 605687 |
| Entrez | 29949 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000270218, ENST00000340758, ENST00000476097, ENST00000656872, ENST00000659997, ENST00000662320
RefSeq mRNA: 5 — MANE Select: NM_153758
NM_001369605, NM_001393490, NM_001393491, NM_013371, NM_153758
CCDS: CCDS1469
Canonical transcript exons
ENST00000659997 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001069558 | 206839850 | 206840002 |
| ENSE00001069560 | 206841004 | 206841078 |
| ENSE00003486320 | 206836958 | 206837023 |
| ENSE00003513568 | 206836661 | 206836806 |
| ENSE00003873698 | 206770773 | 206771078 |
| ENSE00003908534 | 206798861 | 206799006 |
| ENSE00003923874 | 206842527 | 206842981 |
Expression profiles
Bgee: expression breadth ubiquitous, 111 present calls, max score 83.74.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0180 / max 67.5444, expressed in 194 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8153 | 0.5832 | 120 |
| 8154 | 0.3343 | 83 |
| 8155 | 0.0546 | 13 |
| 8156 | 0.0459 | 21 |
Top tissues by expression
240 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nasal cavity epithelium | UBERON:0005384 | 83.74 | gold quality |
| mucosa of stomach | UBERON:0001199 | 77.38 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 75.76 | gold quality |
| stromal cell of endometrium | CL:0002255 | 74.93 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 73.91 | gold quality |
| periodontal ligament | UBERON:0008266 | 69.54 | silver quality |
| minor salivary gland | UBERON:0001830 | 66.04 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 65.05 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 63.92 | gold quality |
| granulocyte | CL:0000094 | 63.48 | gold quality |
| mouth mucosa | UBERON:0003729 | 63.12 | gold quality |
| tibialis anterior | UBERON:0001385 | 62.14 | silver quality |
| trachea | UBERON:0003126 | 61.61 | gold quality |
| cranial nerve II | UBERON:0000941 | 61.58 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 60.34 | gold quality |
| sperm | CL:0000019 | 58.78 | gold quality |
| male germ cell | CL:0000015 | 58.29 | gold quality |
| diaphragm | UBERON:0001103 | 57.90 | gold quality |
| hair follicle | UBERON:0002073 | 57.25 | gold quality |
| lymph node | UBERON:0000029 | 57.04 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| tonsil | UBERON:0002372 | 56.24 | gold quality |
| pancreatic ductal cell | CL:0002079 | 53.86 | silver quality |
| deltoid | UBERON:0001476 | 53.26 | gold quality |
| oviduct epithelium | UBERON:0004804 | 52.09 | silver quality |
| leukocyte | CL:0000738 | 51.86 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 51.60 | gold quality |
| gall bladder | UBERON:0002110 | 51.53 | gold quality |
| mononuclear cell | CL:0000842 | 51.06 | gold quality |
| monocyte | CL:0000576 | 50.88 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.57 |
| E-CURD-112 | no | 2.75 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, ETV6, RELA, RUNX1, STAT6
miRNA regulators (miRDB)
14 targeting IL19, 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-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-498-5P | 99.76 | 69.64 | 1807 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-5583-3P | 99.06 | 65.68 | 1018 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-3127-3P | 98.94 | 67.34 | 1055 |
| HSA-MIR-6756-3P | 98.94 | 66.79 | 1104 |
| HSA-MIR-4308 | 97.56 | 67.13 | 1385 |
Literature-anchored findings (GeneRIF, showing 40)
- examination of ligand/receptor interactions and in signal transduction that may lead to specificity and distinct biology (PMID:12351624)
- Analysis of the IL-19 promoter region shows a fragment of 394 base pairs that supports luciferase activity at a level 7- to 8-fold greater than that of the negative control. (PMID:12370360)
- an examination of the helical crystal structure of this protein (PMID:12403790)
- forms stable complex with interleukin-20 receptor (PMID:14580208)
- IL-19 and IL-20 are synthesized by a distinct population of keratinocytes (PMID:14675174)
- IL-19 upregulates IL-4 expression and the number of IL-4 expressing CD4+ve T-cells (PMID:15120647)
- Elevated IL-19 serum levels in asthmatic patients are positively correlated with levels of IL-4 and IL-13, and suggest that IL-19 may play a role in the pathogenesis of asthma. (PMID:15557163)
- A study of 54 SNPs and haplotypes in the IL10 region indicate that IL10 and IL19/IL20 may be involved in natural clearance of HCV in the African Americans while no significant associations were detected in European Americans. (PMID:15815689)
- IL-19 induces IL-10, which in turn down-regulates IL-19. (PMID:15827959)
- We identified the sequence TGTGGT (-142 to -138) on PE1 as the binding site for the transcription factor AML1, and crucial for the promoter activity of IL-19 because substituting 1bp in the PE region (-139G–>T) abolished IL-19 promoter activity. (PMID:16631120)
- Data indicate that adenosine increases the release of IL-19 from bronchial epithelial cells via activation of adenosine A(2B) receptors, and IL-19 in turn activates human monocytes to release TNF-alpha, which upregulates A(2B) receptor expression. (PMID:16778150)
- IL-19, IL-20 and IL-24 are distinct from classical ILs and constitute a separate subfamily of mediators within the IL-10 family (PMID:17083366)
- study supports the hypothesis that variations of genes of the IL-19 subfamily of cytokines influence susceptibility to palmoplantar pustulosis (PMID:17263806)
- IL-19 expression in uraemic patients has a role in the Th2 immune responses and may have a role in the cytokine dysregulation in uraemia (PMID:17449492)
- Review. The role of IL-19 in the pathogenesis of inflammatory diseases is reviewed. (PMID:17465720)
- data suggest that IL-19 polymorphisms may be associated with age in a Japanese population (PMID:17522354)
- serum levels of IL-19 were higher in endotoxic shock patients than in healthy volunteers (PMID:18246602)
- IL-19 expression in vascular smooth muscle cells (VSMCs) may represent a novel, protective, autocrine response of VSMCs to inflammatory stimuli. (PMID:18669613)
- IL-19 was positively stained in 15 healthy tissue types & 3 major cell types: epithelial cells, endothelial cells & macrophages; several types of tumor cells stained for IL-19, especially squamous cell carcinoma of skin, tongue, esophagus & lung (PMID:18809337)
- The minor allele of the IL19 rs2243188 single nucleotide polymorphism was significantly increased in vitiligo patients compared to controls. (PMID:20699607)
- IL-19 is mitogenic and chemotactic for endothelial cells and can induce their angiogenic potential. (PMID:20966397)
- subset of fetuses with fetal inflammatory response syndrome had high umbilical cord plasma IL-19 concentrations (PMID:21767236)
- Genetic variation in adaptive immunity genes and particularly in IL19/IL20 genes associates with the development of recurrent wheeze after respiratory syncytial virus lower respiratory tract infection. (PMID:21814157)
- protective role of gene polymorphisms in Mexican patients with ulcerative colitis (PMID:21925224)
- Methylation in IL-19 is associated with Crohn’s disease. (PMID:22021194)
- Interleukin-19 (IL-19) induces heme oxygenase-1 (HO-1) expression and decreases reactive oxygen species in human vascular smooth muscle cells. (PMID:22158875)
- IL-19 is pivotal in the pathogenesis of breast cancer. (PMID:22186257)
- IL-19 is overexpressed in the epithelium in Chronic rhinosinusitis with nasal polyps and increases epithelial cell proliferation. (PMID:22583192)
- A significant association was found between the combined genotypes of IL19GC + CC and IL20TG + GG and increased risk of vesicoureteral reflux. (PMID:23000500)
- IL-19 is important for cutaneous wound healing because it upregulates KGF expression. (PMID:23582717)
- IL-19 does not reduce TNF-alpha-stimulated NF-kappaB activation in Vascular endothelial cells but does decrease serine phosphorylation and cytoplasmic translocation of the mRNA stability factor HuR and significantly reduces stability of ICAM-1 and VCAM-1 mRNA. (PMID:23596173)
- In breast cancer, IL-19 expression is correlated with increased mitotic figures, advanced tumor stage, higher metastasis, and poor survival. (Review) (PMID:23710200)
- results suggest that the IL-19 gene might slightly contribute to the genetic risk of schizophrenia. (PMID:24361379)
- elevated gene expression in Mexican mestizo patients with active Crohn’s disease (PMID:24527982)
- Unstimulated and TLR-activated monocytes expressed significantly lower IL-19 mRNA in active CD patients.Exogenous IL-19 had an anti-inflammatory effect on HC but not in CD. (PMID:24718601)
- IL-19 rs2243188 SNP was associated with the susceptibility to lupus nephritis in a Chinese population; but the minor C allele of SNP rs2243188 might be a protective factor for systemic lupus erythematosus (PMID:24819332)
- It supresses inflammation and its gene deletion causes inflammatory bowel disease.(review) (PMID:24919552)
- we delineate the detailed molecular pathway for IL-4 up-regulation of IL-19 in keratinocytes, which may play an important role in AD pathogenesis. (PMID:24943510)
- IL-19 as a component of the IL-23/IL-17 axis strengthens the IL-17A action and might be a biomarker for the activity of this axis in chronic inflammatory disorders (PMID:25046339)
- Distribution of interleukin-10 family cytokines in serum and synovial fluid of patients with inflammatory arthritis reveals different (PMID:25178435)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | il19l | ENSDARG00000090344 |
| mus_musculus | Il19 | ENSMUSG00000016524 |
| rattus_norvegicus | Il19 | ENSRNOG00000087053 |
Paralogs (4): IL26 (ENSG00000111536), IL10 (ENSG00000136634), IL20 (ENSG00000162891), IL24 (ENSG00000162892)
Protein
Protein identifiers
Interleukin-19 — Q9UHD0 (reviewed: Q9UHD0)
Alternative names: Melanoma differentiation-associated protein-like protein, NG.1
All UniProt accessions (1): Q9UHD0
UniProt curated annotations — full annotation on UniProt →
Function. Cytokine that functions as an anti-inflammatory and proangiogenic factor. Polarizes adaptive immunity to an anti-inflammatory phenotype through induction of T-helper 2 responses by both down-regulation of IFN-gamma and up-regulation of IL4 and IL13. Produced by osteocytes, stimulates granulopoiesis and neutrophil formation. Exerts its biological effect through a receptor complex consisting of a heterodimer of IL20RA and IL20RB. In turn, activates the Janus kinase (JAK) and signal transducer and activator of transcription (STAT) pathway, and importantly, STAT3.
Subcellular location. Secreted.
Induction. by DNA damage through pathways mediated by JUN and cGAS-STING leading to production of the cytokines IL1, IL6, and IL8.
Similarity. Belongs to the IL-10 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UHD0-1 | 1 | yes |
| Q9UHD0-2 | 2 | |
| Q9UHD0-3 | 3 |
RefSeq proteins (5): NP_001356534, NP_001380419, NP_001380420, NP_037503, NP_715639* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009079 | 4_helix_cytokine-like_core | Homologous_superfamily |
| IPR020421 | IL-19 | Family |
| IPR020423 | IL-10_CS | Conserved_site |
| IPR020443 | IL-10/19/20/24/26 | Family |
Pfam: PF00726
UniProt features (21 total): helix 9, disulfide bond 3, glycosylation site 2, splice variant 2, signal peptide 1, chain 1, turn 1, strand 1, sequence variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1N1F | X-RAY DIFFRACTION | 1.95 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHD0-F1 | 87.80 | 0.61 |
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 (3): 28–121, 75–127, 76–129
Glycosylation sites (2): 56, 135
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8854691 | Interleukin-20 family signaling |
MSigDB gene sets: 120 (showing top):
REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_LOW_DENSITY_LIPOPROTEIN_PARTICLE_CLEARANCE, TTGCWCAAY_CEBPB_02, CEBPB_01, NIKOLSKY_BREAST_CANCER_1Q32_AMPLICON, GOBP_NEGATIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, FONTAINE_PAPILLARY_THYROID_CARCINOMA_UP, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_PLASMA_LIPOPROTEIN_PARTICLE_CLEARANCE, GOBP_APOPTOTIC_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_TYPE_II_INTERFERON_PRODUCTION, OCT1_03, GOBP_CYTOKINE_PRODUCTION
GO Biological Process (8): apoptotic process (GO:0006915), immune response (GO:0006955), signal transduction (GO:0007165), negative regulation of low-density lipoprotein particle clearance (GO:0010989), reactive oxygen species metabolic process (GO:0072593), negative regulation of extrinsic apoptotic signaling pathway (GO:2001237), positive regulation of intrinsic apoptotic signaling pathway (GO:2001244), positive regulation of apoptotic signaling pathway (GO:2001235)
GO Molecular Function (1): cytokine activity (GO:0005125)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Signaling by Interleukins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| apoptotic signaling pathway | 2 |
| programmed cell death | 1 |
| execution phase of apoptosis | 1 |
| immune system process | 1 |
| response to stimulus | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| negative regulation of lipoprotein particle clearance | 1 |
| regulation of low-density lipoprotein particle clearance | 1 |
| low-density lipoprotein particle clearance | 1 |
| metabolic process | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| negative regulation of apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway | 1 |
| intrinsic apoptotic signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| positive regulation of apoptotic signaling pathway | 1 |
| regulation of intrinsic apoptotic signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| positive regulation of apoptotic process | 1 |
| regulation of apoptotic signaling pathway | 1 |
| receptor ligand activity | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
810 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL19 | IL20RA | Q9UHF4 | 982 |
| IL19 | IL20RB | Q6UXL0 | 977 |
| IL19 | IL26 | Q9NPH9 | 887 |
| IL19 | IL22RA1 | Q8N6P7 | 871 |
| IL19 | IL10 | P22301 | 869 |
| IL19 | IL10RB | Q08334 | 810 |
| IL19 | IL22 | Q9GZX6 | 801 |
| IL19 | IL10RA | Q13651 | 765 |
| IL19 | STAT3 | P40763 | 688 |
| IL19 | IL9 | P15248 | 682 |
| IL19 | IFNL1 | Q8IU54 | 661 |
| IL19 | IL4 | P05112 | 660 |
| IL19 | IL13 | P35225 | 649 |
| IL19 | IL22RA2 | Q969J5 | 622 |
| IL19 | IFNL2 | Q8IZJ0 | 620 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL19 | ZMPSTE24 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (3): ZMPSTE24 (Affinity Capture-MS), S100A6 (Reconstituted Complex), IL19 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GUA7, A0A3Q1LRJ2, A2T6Z6, E9Q8Q8, O46673, O77049, O88823, P01588, P07865, P22301, P29676, P43480, P46651, P48411, P51496, P51497, P51746, P55029, P79338, Q0Z972, Q25BC1, Q28374, Q28C41, Q2PE73, Q3KNT9, Q4VK74, Q5Q0V6, Q5ZJY9, Q6A2H4, Q6AY06, Q6H8S9, Q6H8T0, Q6H8T1, Q6H8T2, Q6UXV1, Q865X4, Q8BGT0, Q8CGK6, Q8CJ70, Q8IU54
Diamond homologs: Q13007, Q925S4, Q9JI24, Q9JKV9, Q9NYY1, Q9UHD0, Q8CJ70
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL19 | up-regulates | IL20RA | binding |
| IL19 | up-regulates | IL20RB | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 11 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1213 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:206770901:A:AC | donor_gain | 1.0000 |
| 1:206770902:C:CC | donor_gain | 1.0000 |
| 1:206770903:TTAC:T | donor_loss | 1.0000 |
| 1:206770904:TACA:T | donor_loss | 1.0000 |
| 1:206770905:A:AC | donor_gain | 1.0000 |
| 1:206770905:ACAC:A | donor_loss | 1.0000 |
| 1:206770906:C:CG | donor_gain | 1.0000 |
| 1:206770906:CA:C | donor_gain | 1.0000 |
| 1:206770906:CACA:C | donor_gain | 1.0000 |
| 1:206770906:CACAG:C | donor_gain | 1.0000 |
| 1:206771055:TAACC:T | acceptor_gain | 1.0000 |
| 1:206771057:ACCC:A | acceptor_loss | 1.0000 |
| 1:206771058:CC:C | acceptor_gain | 1.0000 |
| 1:206771059:CC:C | acceptor_gain | 1.0000 |
| 1:206771060:C:CA | acceptor_loss | 1.0000 |
| 1:206771060:C:CC | acceptor_gain | 1.0000 |
| 1:206771061:T:C | acceptor_loss | 1.0000 |
| 1:206771350:TCTCA:T | donor_loss | 1.0000 |
| 1:206771351:CTCA:C | donor_loss | 1.0000 |
| 1:206771352:TCAC:T | donor_loss | 1.0000 |
| 1:206771353:CA:C | donor_loss | 1.0000 |
| 1:206771354:A:AC | donor_gain | 1.0000 |
| 1:206771355:C:CC | donor_gain | 1.0000 |
| 1:206771359:AAAGT:A | donor_gain | 1.0000 |
| 1:206771411:ATTTG:A | acceptor_gain | 1.0000 |
| 1:206771412:TTTG:T | acceptor_gain | 1.0000 |
| 1:206771413:TTG:T | acceptor_gain | 1.0000 |
| 1:206771413:TTGC:T | acceptor_loss | 1.0000 |
| 1:206771414:TG:T | acceptor_gain | 1.0000 |
| 1:206771416:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000012281 (1:206829585 TG>T), RS1000056725 (1:206835192 C>A,T), RS1000063793 (1:206796201 C>A), RS1000109959 (1:206835493 G>C), RS1000127192 (1:206834064 T>C), RS1000199525 (1:206790996 T>A), RS1000212056 (1:206824004 G>A), RS1000221830 (1:206829664 T>A,C), RS1000255131 (1:206808099 G>A), RS1000265260 (1:206829922 C>T), RS1000274917 (1:206791398 G>A), RS1000302192 (1:206801487 C>T), RS1000314735 (1:206829870 G>A), RS1000327258 (1:206824267 G>A), RS1000428068 (1:206824502 T>C)
Disease associations
OMIM: gene MIM:605687 | disease phenotypes: MIM:266600
GenCC curated gene-disease
Mondo (1): inflammatory bowel disease (MONDO:0005265)
Orphanet (1): Rare inflammatory bowel disease (Orphanet:104012)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000624_16 | Ulcerative colitis | 1.000000e-08 |
| GCST000879_32 | Crohn’s disease | 2.000000e-14 |
| GCST000964_21 | Ulcerative colitis | 6.000000e-17 |
| GCST001725_40 | Inflammatory bowel disease | 7.000000e-42 |
| GCST002775_1 | Alzheimer’s disease (survival time) | 7.000000e-07 |
| GCST002931_12 | Aluminium levels | 2.000000e-06 |
| GCST005588_13 | Idiopathic dilated cardiomyopathy | 4.000000e-06 |
| GCST007362_6 | Acute anterior uveitis (with or without ankylosing spondylitis) | 1.000000e-06 |
| GCST008483_3 | Ulcerative colitis | 4.000000e-06 |
| GCST010219_5 | Attention deficit hyperactivity disorder (inattention symptoms) | 1.000000e-07 |
| GCST90002381_15 | Eosinophil count | 7.000000e-12 |
| GCST90002382_25 | Eosinophil percentage of white cells | 2.000000e-10 |
| GCST90006995_2 | Gut microbiota relative abundance (unclassified genus belonging to family Lachnospiraceae) | 4.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000714 | survival time |
| EFO:0009094 | idiopathic dilated cardiomyopathy |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007874 | gut microbiome measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D015212 | Inflammatory Bowel Diseases | C06.405.205.731; C06.405.469.432 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1800871 | IL10, IL19 | 3 | 0.50 | 2 | tacrolimus |
| rs1800872 | IL10, IL19 | 3 | 3.00 | 2 | cyclosporine;mycophenolate mofetil;tacrolimus |
| rs1800894 | IL10, IL19 | 0.00 | 0 | ||
| rs1800896 | IL10, IL19 | 3 | 2.50 | 5 | sirolimus;efavirenz;tacrolimus;Antiinflammatory agents;non-steroids |
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | affects expression, increases expression | 2 |
| tetrabromobisphenol S | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| adefovir dipivoxil | increases secretion | 1 |
| brevetoxin 2 | increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Zoledronic Acid | increases secretion, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Cidofovir | increases secretion | 1 |
| Arsenicals | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation, affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Cisplatin | increases secretion | 1 |
| Ifosfamide | increases secretion | 1 |
| Lipopolysaccharides | decreases reaction, increases expression | 1 |
| Nickel | increases expression | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases reaction, increases expression | 1 |
| Asbestos, Serpentine | increases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00167882 | PHASE4 | COMPLETED | The Influence of 5-Aminosalicylates on Thiopurine Metabolite Levels |
| NCT00205062 | PHASE4 | TERMINATED | Positron Emission Tomography (PET)-Computed Tomography (CT) in Inflammatory Bowel Disease (IBD) |
| NCT00567593 | PHASE4 | COMPLETED | Gene Regulation by Thiazolidinediones |
| NCT00746395 | PHASE4 | COMPLETED | Randomized, Placebo-controlled Trial of Lubiprostone as a Preparation for Capsule Endoscopy |
| NCT01034358 | PHASE4 | COMPLETED | Immune Response to the Human Papillomavirus Vaccine in Young Women With Inflammatory Bowel Disease |
| NCT01056913 | PHASE4 | COMPLETED | NITI CAR27 (ColonRing) Compression Anastomosis in Colorectal Surgery |
| NCT01067547 | PHASE4 | COMPLETED | A Trial of Iron Replacement in Patients With Iron Deficiency. |
| NCT01341808 | PHASE4 | COMPLETED | Immunogenicity of Hepatitis A Vaccine in Inflammatory Bowel Disease (IBD) Patients |
| NCT01908283 | PHASE4 | COMPLETED | Induction of Immunity Against Streptococcus Pneumoniae in Adults With Inflammatory Bowel Disease |
| NCT01934088 | PHASE4 | COMPLETED | Satisfaction With Nurse Administered Propofol Sedation vs. Midazolam With Fentanyl Sedation for Endoscopy |
| NCT02162862 | PHASE4 | COMPLETED | Treating Disrupted Sleep in Individuals With Inflammatory Bowel Disease |
| NCT02248337 | PHASE4 | COMPLETED | Low Volume Colon Preparation for IBD |
| NCT02281799 | PHASE4 | WITHDRAWN | Thiopurine Induced Pancreatitis in IBD Patients |
| NCT02392286 | PHASE4 | TERMINATED | Corticosteroid Dosage for Crohn’s Disease Flare |
| NCT02437591 | PHASE4 | COMPLETED | Study to Evaluate the Pharmacokinetics of Fidaxomicin in Inflammatory Bowel Disease (IBD) Subjects With Clostridium Difficile Infection (CDI) |
| NCT02453776 | PHASE4 | COMPLETED | Precision Dosing of Infliximab Versus Conventional Dosing of Infliximab |
| NCT02461758 | PHASE4 | COMPLETED | Trial of High Dose vs. Standard Dose Influenza Vaccine in Inflammatory Bowel Disease Patients |
| NCT02566889 | PHASE4 | TERMINATED | An Efficacy and Safety Study of Infliximab Dose Escalation in Pediatric Participants With Inflammatory Bowel Disease |
| NCT02774057 | PHASE4 | UNKNOWN | Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD |
| NCT02806206 | PHASE4 | UNKNOWN | Prucalopride Prior to Small Bowel Capsule Endoscopy |
| NCT02946203 | PHASE4 | COMPLETED | Comparison of VoLumen and Breeza Oral Contrast Agents in Pediatric Patients |
| NCT02994836 | PHASE4 | COMPLETED | GIS-SUSANTI-TNF-2015 (Anti-TNF Discontinuation ) |
| NCT03220841 | PHASE4 | UNKNOWN | Stricture Definition and Treatment (STRIDENT) Drug Therapy Study |
| NCT03351972 | PHASE4 | COMPLETED | Differences in Preparation for Small Bowel Capsule Endoscopy |
| NCT03466983 | PHASE4 | COMPLETED | A Trial Comparing the Incidence of Hypophosphatemia in Relation to Treatment With Iron Isomaltoside and Ferric Carboxymaltose in Subjects With Iron Deficiency Anaemia Due to Inflammatory Bowel Disease |
| NCT03591770 | PHASE4 | TERMINATED | Shingrix Vaccine in Patients With Moderate to Severe Ulcerative Colitis on Tofacitinib |
| NCT03629379 | PHASE4 | COMPLETED | Response to Ustekinumab for Anti-tnf Induced Psoriasiform Skin Lesions |
| NCT03723447 | PHASE4 | COMPLETED | Intraoperative TAP Block With Bupivacaine/Dexamethasone Against Liposomal Bupivacaine (Exparel®) |
| NCT03798691 | PHASE4 | COMPLETED | Immunogenicity of Herpes Zoster Subunit Vaccine in Inflammatory Bowel Disease Patients Treated With Vedolizumab |
| NCT03860012 | PHASE4 | UNKNOWN | Folic Acid in Pediatric Inflammatory Bowel Disease |
| NCT03885713 | PHASE4 | COMPLETED | Identification of Predictive Biomarkers for Response to Biologic Therapies and Tofacitinib in Inflammatory Bowel Disease |
| NCT03917303 | PHASE4 | RECRUITING | Control Crohn Safe Trial |
| NCT04045782 | PHASE4 | COMPLETED | Evaluation of the Safety and Effectiveness of Switching From Humira® to Imraldi® in Flanders |
| NCT04304950 | PHASE4 | COMPLETED | Chronotherapy in Inflammatory Bowel Disease |
| NCT04626947 | PHASE4 | TERMINATED | Prevention of Recurrent Clostridium Difficile Infection (CDI) in Patients With Inflammatory Bowel Disease (IBD). |
| NCT04646187 | PHASE4 | ENROLLING_BY_INVITATION | De-escalation of Anti-TNF Therapy in Inflammatory Bowel Disease |
| NCT04835506 | PHASE4 | ACTIVE_NOT_RECRUITING | Proactive Infliximab Optimization Using a Pharmacokinetic Dashboard Versus Standard of Care in Patients With Inflammatory Bowel Disease: The OPTIMIZE Trial |
| NCT04982172 | PHASE4 | COMPLETED | Model-informed Dose De-escalation of Infliximab in Patients With Inflammatory Bowel Diseases |
| NCT05180175 | PHASE4 | COMPLETED | The Nordic IBD Treatment Strategy Trial |
| NCT05280405 | PHASE4 | UNKNOWN | Early Proactive Therapeutic Drug Monitoring of Infliximab in Children: EPIC Study |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anterior uveitis, inflammatory bowel disease