IL20

Summary

IL20 (interleukin 20, HGNC:6002) is a protein-coding gene on chromosome 1q32.1, encoding Interleukin-20 (Q9NYY1). Pro-inflammatory and angiogenic cytokine mainly secreted by monocytes and skin keratinocytes that plays crucial roles in immune responses, regulation of inflammatory responses, hemopoiesis, as well as epidermal cell and keratinocyte differentiation.

The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis.

Source: NCBI Gene 50604 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 18 total
• Druggable target: yes
• MANE Select transcript: NM_018724

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6002
Approved symbol	IL20
Name	interleukin 20
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	ZCYTO10, IL10D, IL-20
Ensembl gene	ENSG00000162891
Ensembl biotype	protein_coding
OMIM	605619
Entrez	50604

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000367096, ENST00000367098, ENST00000391930

RefSeq mRNA: 4 — MANE Select: NM_018724 NM_001385165, NM_001385166, NM_001385167, NM_018724

CCDS: CCDS1470, CCDS91155

Canonical transcript exons

ENST00000367098 — 6 exons

Exon	Start	End
ENSE00001069566	206867384	206867458
ENSE00001069569	206866484	206866636
ENSE00001069571	206866299	206866364
ENSE00001405992	206865623	206865686
ENSE00001443481	206868487	206869223
ENSE00001443482	206865823	206866011

Expression profiles

Bgee: expression breadth broad, 79 present calls, max score 86.81.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1506 / max 34.0275, expressed in 73 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8157	0.0814	28
8158	0.0691	38

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.81	gold quality
pancreatic ductal cell	CL:0002079	76.36	silver quality
tibialis anterior	UBERON:0001385	71.12	silver quality
cardiac muscle of right atrium	UBERON:0003379	68.93	gold quality
left ventricle myocardium	UBERON:0006566	68.68	gold quality
buccal mucosa cell	CL:0002336	68.05	gold quality
cartilage tissue	UBERON:0002418	64.68	silver quality
seminal vesicle	UBERON:0000998	62.11	silver quality
smooth muscle tissue	UBERON:0001135	60.15	gold quality
stromal cell of endometrium	CL:0002255	59.62	gold quality
myocardium	UBERON:0002349	58.00	gold quality
deltoid	UBERON:0001476	55.88	gold quality
mucosa of paranasal sinus	UBERON:0005030	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
omental fat pad	UBERON:0010414	53.49	gold quality
peritoneum	UBERON:0002358	53.45	gold quality
adipose tissue of abdominal region	UBERON:0007808	52.78	gold quality
quadriceps femoris	UBERON:0001377	52.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	52.29	gold quality
ileal mucosa	UBERON:0000331	51.14	silver quality
vastus lateralis	UBERON:0001379	51.10	gold quality
left uterine tube	UBERON:0001303	49.46	gold quality
skin of abdomen	UBERON:0001416	49.23	gold quality
nasal cavity epithelium	UBERON:0005384	47.89	gold quality
nasal cavity mucosa	UBERON:0001826	47.42	gold quality
muscle tissue	UBERON:0002385	47.11	gold quality
zone of skin	UBERON:0000014	45.95	gold quality
myometrium	UBERON:0001296	45.44	gold quality
cardia of stomach	UBERON:0001162	45.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, HIF1A, NFKB1, NFKB, RELA

miRNA regulators (miRDB)

47 targeting IL20, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-548O-3P	99.74	69.30	2228
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-6848-3P	99.64	66.49	885

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)
• human IL-20 enhanced colony formation by CD34+ multipotential progenitors, buthad no effect on erythroid, granulocyte-macrophage, or megakaryocyte progenitors. (PMID:12855566)
• forms stable complex with interleukin-20 receptor (PMID:14580208)
• IL-19 and IL-20 are synthesized by a distinct population of keratinocytes. (PMID:14675174)
• 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)
• Altogether our findings revealed that IL-20 is a negative modulator of COX-2/PGE(2) and inhibits angiogenesis. (PMID:15950941)
• IL-20 is a pleiotropic cytokine and promotes angiogenesis. (PMID:16511554)
• IL-20 may influence inflammation through IFN-like effects. These data indicate that IL-20 may be an important effector cytokine in psoriasis, and that its inhibition may represent a potential therapeutic target. (PMID:16645593)
• Ultraviolet light with photosensitizing agents had little effect or decreased epithelial keratinocyte il-20 levels. (PMID:16709143)
• IL-20 is a proatherogenic cytokine that contributes to the progression of atherosclerosis. (PMID:16778121)
• IL-20 protein is expressed in 30 non-neoplastic tissue types and five major cell types: epithelial cells, myoepithelial cells, endothelial cells, macrophages, skeletal muscle cells, and several types of tumor cells. (PMID:16908179)
• 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)
• p38 mitogen-activated protein kinase (MAPK) as well as inhibitory kappaB kinase-NF-kappaB signaling pathways are crucial for IL-20 expression in keratinocytes (PMID:17255956)
• extended haplotype analysis revealed an association of IL19/IL20 haplotype GACACCGGAA with a higher risk for palmoplantar pustulosis (PPP) and of IL20/IL24 haplotype CAAAC with a reduced risk for PPP (PMID:17263806)
• Review. The role of IL-20 in the pathogenesis of inflammatory diseases is reviewed. (PMID:17465720)
• Both IL-20 and IL-24 showed correlations to CCL2/MCP-1 in plasma from rheumatoid arthritis and spondyloarthropathy patients. (PMID:18061474)
• Activation of toll-like receptors 2 and 3 show keratinocytes in the simultaneous presence of IL-20 and IL-29. (PMID:18281438)
• results suggest that IL10 and IL20 gene variants influence hepatitis B virus infection outcome (PMID:18479293)
• IL-20 plays an important role in the pathogenesis of disc herniation. (PMID:18758357)
• novel effects of IL-20 on mesangial cells and its association with lupus nephritis. (PMID:18771958)
• IL-20 was responsive to hypoxia in vitro and in the ischemic stroke model and that up-regulation of IL-20 in the ischemic brain may contribute to brain injury (PMID:19342680)
• in premenopausal obese women, interleukin-20 levels are higher than matched normal weight control women, are associated with body weight and waist-hip ratio, and are reduced by weight loss (PMID:19481430)
• Data show that JAK1/STAT-activating ligands, interleukin 10, IL20, IL24, and IL6 were expressed by senescent cells, supporting autocrine/paracrine activation of JAK1/STAT. (PMID:19802007)
• Data show that in lesional skin of psoriasis patients, highly elevated IL-20 levels strongly correlated with IL-22, and to a lesser extent, with IL-17A and TNF-alpha. (PMID:19830738)
• Essentially identical phenotypes in transgenic mouse models for IL-20, IL-22, and IL-24 suggest that the three related cytokines play a redundant role in keratinocyte differentiation and proliferation. (PMID:20061404)
• The G allele of the IL-20 -1723C to G polymorphism may contribute to a genetic susceptibility to psoriasis in the Chinese Han population, particularly in patients with psoriasis triggered or exacerbated by an upper respiratory tract infection. (PMID:21109726)
• IL-20 & its receptors were epigenetically regulated through histone post-translational modifications and DNA CpG residue methylation. Also, treatment with recombinant IL-20 resulted in decreased expression of the VEGF family members at the mRNA level. (PMID:21565488)
• crystallographic asymmetric unit contains one IL-20-IL-20R1-IL-20R2 complex, corresponding to a solvent content of approximately 54% (PMID:22232181)
• The mRNA levels of p40, IL-20 and IL-21 at baseline may serve as potential predictors of treatment response to ustekinumab treatment in psoriasis. (PMID:22930279)
• A blood test for discrimination of patients with acute cellular rejection from transplanted kidney is based on simultaneous quantification of three analytes: IL-1 receptor antagonist, IL-20 and soluble CD40 ligand. (PMID:22948742)
• Elevated expression of inflammatory cytokines (IL-5, IL-20, and IL-28A) is associated with bladder cancer development. (PMID:22962576)
• A significant association was found between the combined genotypes of IL19GC + CC and IL20TG + GG and increased risk of vesicoureteral reflux. (PMID:23000500)
• the GG genotypes of the IL-20 polymorphisms (rs2981573 and rs2232360) might have an important role in the development of UC in the Mexican population. (PMID:23183096)
• IL-10– and IL-20–expressing epithelial and inflammatory cells are increased in patients with ulcerative colitis. (PMID:23207823)
• Interleukin-20 promotes migration of bladder cancer cells through extracellular signal-regulated kinase (ERK)-mediated MMP-9 protein expression leading to nuclear factor (NF-kappaB) activation by inducing the up-regulation of p21(WAF1) protein expression (PMID:23271730)
• We observed that IL-20 which is an IL-10 group angiogenesis indicator was suppressed in systemic sclerosis, suggesting abnormal angiogenesis. (PMID:23812620)
• This study demonstrates that rs1713239 and infection may have potential synergetic effect on modulating the transcriptional activity of IL-20. (PMID:23892591)
• Decreased interleukin-20 expression in scleroderma skin contributes to cutaneous fibrosis. (PMID:24470401)
• IL-20 is produced by keratinocytes, released into the epidermis and then possibly taken up by papillary mononuclear cells (PMID:24628979)
• Overexpression of IL-20 was detected in the airway epithelium collected from patients with asthma. (PMID:25028099)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	il19l	ENSDARG00000090344
mus_musculus	Il20	ENSMUSG00000026416
rattus_norvegicus	Il20	ENSRNOG00000004633

Paralogs (4): IL26 (ENSG00000111536), IL10 (ENSG00000136634), IL19 (ENSG00000142224), IL24 (ENSG00000162892)

Protein

Protein identifiers

Interleukin-20 — Q9NYY1 (reviewed: Q9NYY1)

Alternative names: Cytokine Zcyto10

All UniProt accessions (2): A0A7R8C4W0, Q9NYY1

UniProt curated annotations — full annotation on UniProt →

Function. Pro-inflammatory and angiogenic cytokine mainly secreted by monocytes and skin keratinocytes that plays crucial roles in immune responses, regulation of inflammatory responses, hemopoiesis, as well as epidermal cell and keratinocyte differentiation. Enhances tissue remodeling and wound-healing activities and restores the homeostasis of epithelial layers during infection and inflammatory responses to maintain tissue integrity. Affects multiple actin-mediated functions in activated neutrophils leading to inhibition of phagocytosis, granule exocytosis, and migration. Exert its effects via the type I IL-20 receptor complex consisting of IL20RA and IL20RB. Alternatively, can mediate its activity through a second receptor complex called type II IL-20 receptor complex composed of IL22RA1 and IL20RB. Acts as an arteriogenic and vascular remodeling factory by activating a range of signaling processes including phosphorylations of JAK2 and STAT5 as well as activation of the serine and threonine kinases AKT and ERK1/2. Alternatively, can activate STAT3 phosphorylation and transcriptional activity in a JAK2, ERK1/2 and p38 MAPK-dependent manner in keratinocytes.

Subunit / interactions. Forms a 1:1:1 heterotrimeric complex with its primary high-affinity heterodimeric receptor IL20RA/IL20RB.

Subcellular location. Secreted.

Tissue specificity. Expressed in most tissues and five major cell types: epithelial cells (primarily skin, buccal mucosa, tongue, nasal mucosa, lung, ureter, breast, prostate, fallopian tube, and adrenal gland), myoepithelial cells (mainly prostate), endothelial cells (mainly in small vessels or capillaries), macrophages, and skeletal muscle. Isoform 2 was detected in the lung tissue only.

Induction. Up-regulated by UV-B irradiation in epithelial keratinocytes.

Miscellaneous. Lung-specific.

Similarity. Belongs to the IL-10 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NYY1-1	1, IL-20W, Wild type	yes
Q9NYY1-2	2, IL-20S, ex4-del, Short

RefSeq proteins (4): NP_001372094, NP_001372095, NP_001372096, NP_061194* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily
IPR020423	IL-10_CS	Conserved_site
IPR020442	IL-20	Family
IPR020443	IL-10/19/20/24/26	Family

Pfam: PF00726

UniProt features (20 total): helix 8, strand 3, disulfide bond 3, sequence conflict 2, signal peptide 1, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4DOH	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NYY1-F1	93.12	0.86

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): 33–126, 80–132, 81–134

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8854691	Interleukin-20 family signaling

MSigDB gene sets: 146 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_DENDRITIC_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_KERATINOCYTE_DIFFERENTIATION, GOBP_RESPONSE_TO_PEPTIDE, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION, GOBP_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY_VIA_JAK_STAT, GOBP_POSITIVE_REGULATION_OF_PEPTIDYL_TYROSINE_PHOSPHORYLATION

GO Biological Process (8): immune response (GO:0006955), osteoclast differentiation (GO:0030316), positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531), positive regulation of epidermal cell differentiation (GO:0045606), positive regulation of keratinocyte differentiation (GO:0045618), positive regulation of osteoclast differentiation (GO:0045672), regulation of inflammatory response (GO:0050727), signal transduction (GO:0007165)

GO Molecular Function (4): cytokine activity (GO:0005125), interleukin-20 receptor binding (GO:0045517), interleukin-22 receptor binding (GO:0045518), signaling receptor binding (GO:0005102)

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
cytokine receptor binding	2
immune system process	1
response to stimulus	1
myeloid leukocyte differentiation	1
tyrosine phosphorylation of STAT protein	1
regulation of tyrosine phosphorylation of STAT protein	1
positive regulation of peptidyl-tyrosine phosphorylation	1
epidermal cell differentiation	1
positive regulation of epithelial cell differentiation	1
regulation of epidermal cell differentiation	1
positive regulation of epidermis development	1
keratinocyte differentiation	1
positive regulation of epidermal cell differentiation	1
regulation of keratinocyte differentiation	1
positive regulation of multicellular organismal process	1
positive regulation of myeloid leukocyte differentiation	1
osteoclast differentiation	1
regulation of osteoclast differentiation	1
inflammatory response	1
regulation of defense response	1
regulation of response to external stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
receptor ligand activity	1
protein binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

226 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL20	EPB41L5	Q9HCM4	353
IL20	ZNF224	P17033	353
IL20	OTUD4	Q01804	353
IL20	NCOR2	Q9Y618	349
IL20	IL20RA	Q9UHF4	262
IL20	GEM	P55040	236
IL20	DGAT1	O75907	222
IL20	IL22	Q9GZX6	209
IL20	FAM13C	Q8NE31	205
IL20	TNF	P01375	202
IL20	IL6	P05231	202
IL20	IL10	P22301	197
IL20	IL4	P05112	191
IL20	IL26	Q9NPH9	187
IL20	RAB21	Q9UL25	178

IntAct

3 interactions, top by confidence:

A	B	Type	Score
IL20	HRAS	psi-mi:“MI:0914”(association)	0.350
IL20	HS3ST1	psi-mi:“MI:0914”(association)	0.350

BioGRID (30): RTN4RL2 (Affinity Capture-MS), HRAS (Affinity Capture-MS), LRP2 (Affinity Capture-MS), EMB (Affinity Capture-MS), GFER (Affinity Capture-MS), PPM1A (Affinity Capture-MS), HS3ST1 (Affinity Capture-MS), CST5 (Affinity Capture-MS), PCDH1 (Affinity Capture-MS), VGF (Affinity Capture-MS), TMEM59 (Affinity Capture-MS), BMP4 (Affinity Capture-MS), S100P (Reconstituted Complex), S100A6 (Reconstituted Complex), IL20 (Proximity Label-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
IL20	up-regulates	IL20RB	binding
IL20	up-regulates	IL22RA1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

511 predictions. Top by Δscore:

Variant	Effect	Δscore
1:206865687:G:GG	donor_gain	1.0000
1:206865973:G:GT	donor_gain	1.0000
1:206865974:A:T	donor_gain	1.0000
1:206866007:GTGTG:G	donor_gain	1.0000
1:206866292:T:A	acceptor_gain	1.0000
1:206866297:A:AG	acceptor_gain	1.0000
1:206866298:G:GA	acceptor_gain	1.0000
1:206866298:GC:G	acceptor_gain	1.0000
1:206866298:GCA:G	acceptor_gain	1.0000
1:206866298:GCAA:G	acceptor_gain	1.0000
1:206866361:AAAGG:A	donor_loss	1.0000
1:206866363:AGG:A	donor_loss	1.0000
1:206866364:GGTA:G	donor_loss	1.0000
1:206866365:G:GG	donor_gain	1.0000
1:206866365:GT:G	donor_loss	1.0000
1:206866482:A:AG	acceptor_gain	1.0000
1:206866482:AGCCT:A	acceptor_gain	1.0000
1:206866483:G:GT	acceptor_gain	1.0000
1:206866483:GC:G	acceptor_gain	1.0000
1:206866483:GCC:G	acceptor_gain	1.0000
1:206866483:GCCT:G	acceptor_gain	1.0000
1:206866483:GCCTG:G	acceptor_gain	1.0000
1:206866618:G:GT	donor_gain	1.0000
1:206866635:GT:G	donor_gain	1.0000
1:206866636:TGTG:T	donor_loss	1.0000
1:206866637:G:GG	donor_gain	1.0000
1:206866637:GTGA:G	donor_loss	1.0000
1:206866639:G:GC	donor_loss	1.0000
1:206866640:AGTG:A	donor_loss	1.0000
1:206866641:GT:G	donor_gain	1.0000

AlphaMissense

1157 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:206868513:G:C	K160N	0.960
1:206868513:G:T	K160N	0.960
1:206865988:T:C	F46L	0.957
1:206865990:T:A	F46L	0.957
1:206865990:T:G	F46L	0.957
1:206866541:T:C	F95L	0.929
1:206866543:T:A	F95L	0.929
1:206866543:T:G	F95L	0.929
1:206868524:A:T	E164V	0.926
1:206868546:G:C	W171C	0.900
1:206868546:G:T	W171C	0.900
1:206866586:A:C	S110R	0.899
1:206866588:C:A	S110R	0.899
1:206866588:C:G	S110R	0.899
1:206866542:T:C	F95S	0.898
1:206866542:T:G	F95C	0.886
1:206866626:T:C	L123P	0.881
1:206868544:T:A	W171R	0.880
1:206868544:T:C	W171R	0.880
1:206866496:T:A	C80S	0.878
1:206866497:G:C	C80S	0.878
1:206867450:T:C	F149L	0.877
1:206867452:T:A	F149L	0.877
1:206867452:T:G	F149L	0.877
1:206868524:A:C	E164A	0.870
1:206866634:T:A	C126S	0.856
1:206866635:G:C	C126S	0.856
1:206865949:T:A	C33S	0.855
1:206865950:G:C	C33S	0.855
1:206868527:T:C	L165P	0.854

dbSNP variants (sampled 300 via entrez): RS1000506836 (1:206866166 A>G), RS1000558800 (1:206865752 C>A,G,T), RS1001140710 (1:206864822 A>G,T), RS1001443226 (1:206865228 TG>T), RS1002003744 (1:206866788 A>G), RS1002140048 (1:206863369 C>A,T), RS1002291252 (1:206869558 T>C), RS1002571991 (1:206862142 G>A), RS1002776105 (1:206868976 G>A,T), RS1003135304 (1:206869267 G>A), RS1003335456 (1:206868350 ATAACTTCTT>A), RS1004219365 (1:206869593 G>A), RS1004471570 (1:206863044 G>C), RS1005271065 (1:206866048 T>A), RS1005344628 (1:206865732 G>A)

Disease associations

OMIM: gene MIM:605619 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001725_40	Inflammatory bowel disease	7.000000e-42

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3713449 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Coumestrol	affects cotreatment, increases expression, affects reaction	2
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Estradiol	increases expression, increases reaction, affects cotreatment, decreases reaction	1
Lipopolysaccharides	decreases reaction, increases expression	1
Patulin	increases expression	1
Silicon Dioxide	increases expression	1
Smoke	increases expression	1
Tamoxifen	increases expression, decreases reaction	1
Tobacco Smoke Pollution	increases expression	1
beta-Naphthoflavone	increases expression	1
Lactic Acid	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1UG	Abcam HeLa IL20 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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