IL1F10

Summary

IL1F10 (interleukin 1 family member 10, HGNC:15552) is a protein-coding gene on chromosome 2q14.1, encoding Interleukin-1 family member 10 (Q8WWZ1). Cytokine with immunomodulatory activity.

The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported.

Source: NCBI Gene 84639 — RefSeq curated summary.

At a glance

• GWAS associations: 25
• Clinical variants (ClinVar): 26 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_173161

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15552
Approved symbol	IL1F10
Name	interleukin 1 family member 10
Location	2q14.1
Locus type	gene with protein product
Status	Approved
Aliases	IL-38, FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833
Ensembl gene	ENSG00000136697
Ensembl biotype	protein_coding
OMIM	615296
Entrez	84639

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000341010, ENST00000393197, ENST00000496265

RefSeq mRNA: 2 — MANE Select: NM_173161 NM_032556, NM_173161

CCDS: CCDS2112

Canonical transcript exons

ENST00000341010 — 5 exons

Exon	Start	End
ENSE00001000645	113074329	113074414
ENSE00001071188	113072711	113072770
ENSE00001180923	113067970	113068016
ENSE00001386590	113074723	113074850
ENSE00001834633	113075152	113075843

Expression profiles

Bgee: expression breadth broad, 32 present calls, max score 79.34.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skin of leg	UBERON:0001511	79.34	gold quality
zone of skin	UBERON:0000014	76.23	gold quality
skin of abdomen	UBERON:0001416	75.56	gold quality
pancreatic ductal cell	CL:0002079	70.61	silver quality
ileal mucosa	UBERON:0000331	66.97	silver quality
cardiac muscle of right atrium	UBERON:0003379	66.11	gold quality
heart right ventricle	UBERON:0002080	65.47	gold quality
tibialis anterior	UBERON:0001385	63.75	silver quality
quadriceps femoris	UBERON:0001377	63.48	gold quality
left ventricle myocardium	UBERON:0006566	63.44	gold quality
vastus lateralis	UBERON:0001379	62.71	gold quality
upper leg skin	UBERON:0004262	61.96	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	61.67	gold quality
biceps brachii	UBERON:0001507	60.71	gold quality
deltoid	UBERON:0001476	59.29	gold quality
penis	UBERON:0000989	59.13	gold quality
amniotic fluid	UBERON:0000173	58.78	silver quality
epithelial cell of pancreas	CL:0000083	57.79	gold quality
jejunal mucosa	UBERON:0000399	56.74	gold quality
myocardium	UBERON:0002349	56.24	gold quality
parotid gland	UBERON:0001831	56.19	gold quality
oral cavity	UBERON:0000167	55.46	gold quality
epithelium of nasopharynx	UBERON:0001951	55.44	gold quality
lateral globus pallidus	UBERON:0002476	55.41	gold quality
kidney epithelium	UBERON:0004819	55.37	gold quality
nasal cavity epithelium	UBERON:0005384	54.48	gold quality
gingival epithelium	UBERON:0001949	53.69	gold quality
pigmented layer of retina	UBERON:0001782	53.66	gold quality
epithelium of mammary gland	UBERON:0003244	53.37	gold quality
gingiva	UBERON:0001828	53.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

25 targeting IL1F10, 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-4795-3P	100.00	74.62	4024
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-8070	99.07	69.30	1303
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-5001-3P	98.91	67.28	1394
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-3138	98.41	67.53	744
HSA-MIR-12127	97.93	66.67	793
HSA-MIR-335-5P	97.10	68.12	1022
HSA-MIR-301A-5P	96.88	68.07	931
HSA-MIR-301B-5P	96.88	67.75	946
HSA-MIR-597-5P	96.82	67.57	732
HSA-MIR-7847-3P	96.63	64.58	952

Literature-anchored findings (GeneRIF, showing 40)

• The IL1A locus was strongly associated with alkylosing spondyloarthritis phenotype, whereas IL1F10 was associated with non-alkylosing spondyloarthritis. (PMID:22312160)
• These data provide evidence that IL-38 binds to the IL-36R, as does IL-36Ra.[IL-38, IL-36R] (PMID:22315422)
• rs6759676, closest gene locus IL1F10 is associated with increased circulating levels of IL-1 receptor antagonist, a protective factor in development of insulin resistance. (PMID:24969107)
• Data suggest that IL-38 may be protective in SLE. A strong association between IL-38 and SLE severity suggests that IL-38 expression is driven by processes linked to SLE pathogenesis. (PMID:26314375)
• results indicate that circulating IL-38 is a potentially novel biomarker for patients with ST-segment elevation myocardial infarction (PMID:26819499)
• Higher serum IL-38 levels before treatment indicate a greater probability of viral response to telbivudine treatment in chronic hepatitis B. (PMID:27182162)
• this clinical study demonstrates the elevation of anti-inflammatory cytokine IL-38 and the decrement of CD4+CD25highFoxP3+ and CD4+CD25highCD127- Treg in childhood asthma. The negative correlation of IL-38 and Treg lymphocytes may imply a negative feedback of the two anti-inflammatory factors in asthma. (PMID:27438823)
• this study shows that in vivo expression of human IL-38 in mice has hepatoprotective effects against Con A-induced liver injury by inhibition of inflammatory cytokine production (PMID:27723569)
• IL-38 may exert its anti-inflammatory effects by decreasing the production of proinflammatory cytokines by macrophages and synovial fibroblasts. (PMID:28288964)
• IL-38 may play an important role in acute and/or chronic inflammation in anticancer drug-induced lung injury and acute exacerbation of idiopathic pulmonary fibrosis. (PMID:28942884)
• ETV [entecavir] can not only inhibit HBV DNA replication, reducing HBV DNA loads, but also contribute to regulate Th1/Th2 type cytokines expression level in patients with CHB [chronic hepatitis b], but there was no correlation between the levels of various cytokines, various cytokines and HBV DNA loads. (PMID:29056011)
• The serum level of IL-38 in the children in the acute phase of Kawasaki disease was significantly lower than that in the healthy control group (PMID:30022755)
• This study concluded that IL-38 expression correlated with RA disease activity, and plasma IL-38 might be a promising diagnostic biomarker for RA. (PMID:30268016)
• IL-38 has an anti-inflammatory action in psoriasis and its expression correlates with disease severity and therapeutic response to anti-IL-17A treatment. (PMID:30377293)
• IL-38 and IL-36 family members’ expression was increased by immune and nonimmune cells in patients with active inflammatory bowel disease. These cytokines and IL-36Ra might represent novel therapeutic targets in patients with gut inflammation. (PMID:30643810)
• These data suggest IL-36, IL-37 and IL-38 might contribute to the immunological mediated pathogenesis of chronic primary angle closure glaucoma , despite the eye being an immune-privileged organ under normal conditions (PMID:30901679)
• The serum level of IL-38 was lower in pulmonary embolism (PE) group than in Non-PE group (PMID:30917443)
• The IL-38/IL-36R and/or IL-38/IL-1RAPL1 axis primarily play an anti-inflammatory role in the development and resolution of inflammatory autoimmune diseases and indicate a possible therapeutic benefit of IL-38 in these diseases. (PMID:31387327)
• this study shows that IL-38 is a biomarker for acute respiratory distress syndrome in humans (PMID:31756565)
• High IL38 in colorectal cancer (CRC) is an independent prognostic factor for the longer survival of CRC patients. IL-38 signalling may constitute a therapeutic target in CRC. (PMID:31786620)
• IL1F10 genes may contribute to the decrease in forced vital capacity levels by interacting with PM10 exposure (PMID:31846791)
• Interleukin-38 is elevated in inflammatory bowel diseases and suppresses intestinal inflammation. (PMID:31927461)
• The positive relationship between IL-38 serum levels and eye involvement that IL-38 may play a role in this clinical feature of the disease. (PMID:31957702)
• New aspect of allergic contact dermatitis, an inflammatory skin disorder mediated by mast cells: Can IL-38 help? (PMID:32259663)
• IL-38 alleviates the inflammatory response and the degeneration of nucleus pulposus cells via inhibition of the NF-kappaB signaling pathway in vitro. (PMID:32502922)
• IL-38 inhibits microglial inflammatory mediators and is decreased in amygdala of children with autism spectrum disorder. (PMID:32601180)
• Interleukin-38 promotes tumor growth through regulation of CD8(+) tumor-infiltrating lymphocytes in lung cancer tumor microenvironment. (PMID:32653939)
• Roles of novel IL-1 family (IL-36, IL-37, and IL-38) members in chronic brucellosis. (PMID:32736334)
• Blockade of Th17 response by IL-38 in primary Sjogren’s syndrome. (PMID:32950755)
• IL-38: A novel cytokine in systemic lupus erythematosus pathogenesis. (PMID:33079487)
• Reduced concentrations of the B cell cytokine interleukin 38 are associated with cardiovascular disease risk in overweight subjects. (PMID:33125159)
• Elevated IL-38 inhibits IL-23R expression and IL-17A production in thyroid-associated ophthalmopathy. (PMID:33383445)
• Interleukin-38 ameliorates poly(I:C) induced lung inflammation: therapeutic implications in respiratory viral infections. (PMID:33414457)
• IL-38 prevents induction of trained immunity by inhibition of mTOR signaling. (PMID:33620105)
• IL-38 Exerts Anti-Inflammatory and Antifibrotic Effects in Thyroid-Associated Ophthalmopathy. (PMID:33693700)
• Biology of interleukin-38 and its role in chronic inflammatory diseases. (PMID:33725637)
• The elevated expression of IL-38 serves as an anti-inflammatory factor in osteoarthritis and its protective effect in osteoarthritic chondrocytes. (PMID:33774357)
• IL-38 as an early predictor of the ischemic stroke prognosis. (PMID:34157522)
• Interleukin-38 Suppresses Cell Migration and Proliferation and Promotes Apoptosis of Colorectal Cancer Cell Through Negatively Regulating Extracellular Signal-Regulated Kinases Signaling. (PMID:34612721)
• Interleukin 38 serum level is increased in patients with vitiligo, correlated with disease severity, and associated with signs of disease activity. (PMID:34783147)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	il1fma	ENSDARG00000089383
danio_rerio	il1b	ENSDARG00000098700
mus_musculus	Il1f10	ENSMUSG00000046845
rattus_norvegicus	Il1f10	ENSRNOG00000005800

Paralogs (7): IL1B (ENSG00000125538), IL37 (ENSG00000125571), IL36G (ENSG00000136688), IL1RN (ENSG00000136689), IL36A (ENSG00000136694), IL36RN (ENSG00000136695), IL36B (ENSG00000136696)

Protein

Protein identifiers

Interleukin-1 family member 10 — Q8WWZ1 (reviewed: Q8WWZ1)

Alternative names: Family of interleukin 1-theta, Interleukin-1 HY2, Interleukin-1 theta, Interleukin-38

All UniProt accessions (1): Q8WWZ1

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine with immunomodulatory activity. Alone, does not induce cytokine production, but reduces IL22 and IL17A production by T-cells in response to heat-killed Candida albicans. Reduces IL36G-induced production of IL8 by peripheral blood mononuclear cells. Increases IL6 production by dendritic cells stimulated by bacterial lipopolysaccharides (LPS). Ligand for IL-36R/IL1RL2.

Subunit / interactions. Interacts with cargo receptor TMED10; the interaction mediates the translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and thereby secretion.

Subcellular location. Cytoplasm. Secreted.

Tissue specificity. Expressed in fetal skin, spleen and tonsil. Expressed mostly in the basal epithelia of skin and in proliferating B-cells of the tonsil.

Similarity. Belongs to the IL-1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WWZ1-1	1	yes
Q8WWZ1-2	2

RefSeq proteins (2): NP_115945, NP_775184* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000975	IL-1_fam	Family
IPR003297	IL-1RA/IL-36	Family
IPR008996	IL1/FGF	Homologous_superfamily

Pfam: PF00340

UniProt features (22 total): strand 12, helix 5, sequence variant 2, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5BOW	X-RAY DIFFRACTION	1.31

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWZ1-F1	92.14	0.82

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9007892	Interleukin-38 signaling
R-HSA-9014826	Interleukin-36 pathway

MSigDB gene sets: 59 (showing top): REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, LFA1_Q6, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CEBPB_01, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_LIPID, GOMF_CYTOKINE_ACTIVITY, GOMF_SIGNALING_RECEPTOR_BINDING, chr2q14, GOBP_RESPONSE_TO_MOLECULE_OF_BACTERIAL_ORIGIN, GOMF_INTERLEUKIN_1_RECEPTOR_BINDING

GO Biological Process (4): inflammatory response (GO:0006954), immune response (GO:0006955), cytokine-mediated signaling pathway (GO:0019221), cellular response to lipopolysaccharide (GO:0071222)

GO Molecular Function (3): cytokine activity (GO:0005125), interleukin-1 receptor binding (GO:0005149), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interleukin-1 family signaling	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
defense response	1
immune system process	1
response to stimulus	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
receptor ligand activity	1
cytokine receptor binding	1
growth factor receptor binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

760 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL1F10	IL1RL2	Q9HB29	992
IL1F10	IL1R1	P14778	897
IL1F10	KPNA7	A9QM74	838
IL1F10	IL1A	P01583	780
IL1F10	KPNA6	O60684	768
IL1F10	FOXP1	Q9H334	762
IL1F10	BTN3A1	O00481	760
IL1F10	A0A3B3IT14	A0A3B3IT14	731
IL1F10	IL1B	P01584	724
IL1F10	IL18R1	Q13478	721
IL1F10	IL36B	Q9NZH7	720
IL1F10	IL1RAP	Q9NPH3	669
IL1F10	IL18RAP	O95256	667
IL1F10	IL33	O95760	667
IL1F10	MUC3A	Q02505	659

IntAct

8 interactions, top by confidence:

A	B	Type	Score
OAZ3	AZIN1	psi-mi:“MI:0914”(association)	0.800
IMPDH2	IL1F10	psi-mi:“MI:0915”(physical association)	0.560
IL1F10	INPPL1	psi-mi:“MI:0914”(association)	0.350
SETDB2	DHX16	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
IMPDH2	IL1F10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): IL1F10 (Affinity Capture-MS), IMPDH2 (Two-hybrid), KLHL42 (Affinity Capture-MS), IL1F10 (Affinity Capture-MS), KLHL18 (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), IL1F10 (Affinity Capture-MS), ISCA1 (Affinity Capture-MS), N4BP1 (Affinity Capture-MS)

ESM2 similar proteins: A1A5C7, A5D7H1, A6H7A0, A6NJW4, A6QLN9, A8MUP2, A8MXK1, B0BMW8, B0BNL6, O35393, O62657, O75078, P52875, P55244, P56880, P57791, Q08334, Q0V881, Q15768, Q16557, Q2M1K6, Q3SZQ2, Q3UHH2, Q4V899, Q5E9H2, Q5FYB0, Q5M7U7, Q5R6I6, Q5RCI5, Q5SQ64, Q642A6, Q6PCB0, Q7TPB4, Q8BM89, Q8BZH0, Q8N431, Q8N5I2, Q8R2R5, Q8R2Z5, Q8VE98

Diamond homologs: O18999, O77482, P09428, P18510, P21621, P25085, P25086, P26890, P51745, P79162, Q29056, Q2MH07, Q866R8, Q8R459, Q8WNR2, Q8WWZ1, Q9BEH0, Q9D6Z6, Q9GMZ4, Q9NZH6, Q9QYY1, Q9UBH0, Q9UHA7, Q9YGD3, A4UYK8, P01584, P10749, P14628, P26889, P41687, P46648, P48090, P51493, P79182, Q28292, Q28386, Q2HZH0, Q63264, Q6PUD2, Q6R2X3

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
IL1F10	“down-regulates activity”	IL36RN	binding
IL1F10	“down-regulates activity”	IL1RL2	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	19
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
686299	GRCh37/hg19 2q13(chr2:113717386-113892774)x1	Pathogenic
832164	NC_000002.12:g.(?113060832)(113116890_?)del	Likely pathogenic

SpliceAI

743 predictions. Top by Δscore:

Variant	Effect	Δscore
2:113072709:A:AG	acceptor_gain	1.0000
2:113072710:G:GG	acceptor_gain	1.0000
2:113072710:GT:G	acceptor_gain	1.0000
2:113074327:A:AG	acceptor_gain	1.0000
2:113074328:G:GG	acceptor_gain	1.0000
2:113074328:GA:G	acceptor_gain	1.0000
2:113074328:GAATT:G	acceptor_gain	1.0000
2:113074721:A:AG	acceptor_gain	1.0000
2:113074722:G:GG	acceptor_gain	1.0000
2:113072708:CAGTG:C	acceptor_gain	0.9900
2:113072709:AGTGA:A	acceptor_gain	0.9900
2:113072710:GTGA:G	acceptor_gain	0.9900
2:113072710:GTGAG:G	acceptor_gain	0.9900
2:113072771:G:GG	donor_gain	0.9900
2:113074322:GTTTC:G	acceptor_loss	0.9900
2:113074323:TTTCA:T	acceptor_loss	0.9900
2:113074324:TTCA:T	acceptor_loss	0.9900
2:113074325:TCAG:T	acceptor_loss	0.9900
2:113074326:CAG:C	acceptor_loss	0.9900
2:113074327:A:AC	acceptor_loss	0.9900
2:113074412:CAGG:C	donor_loss	0.9900
2:113074413:AGGTG:A	donor_loss	0.9900
2:113074414:GG:G	donor_loss	0.9900
2:113074415:GTGAG:G	donor_loss	0.9900
2:113074416:T:G	donor_loss	0.9900
2:113074720:TA:T	acceptor_loss	0.9900
2:113074721:A:AC	acceptor_loss	0.9900
2:113074722:GA:G	acceptor_gain	0.9900
2:113074722:GAGA:G	acceptor_gain	0.9900
2:113074722:GAGAA:G	acceptor_gain	0.9900

AlphaMissense

984 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:113075200:T:C	F99L	0.970
2:113075202:C:A	F99L	0.970
2:113075202:C:G	F99L	0.970
2:113075206:T:C	F101L	0.944
2:113075208:C:A	F101L	0.944
2:113075208:C:G	F101L	0.944
2:113075266:T:C	F121L	0.926
2:113075268:C:A	F121L	0.926
2:113075268:C:G	F121L	0.926
2:113075233:T:C	F110L	0.893
2:113075235:C:A	F110L	0.893
2:113075235:C:G	F110L	0.893
2:113075347:T:C	F148L	0.860
2:113075349:T:A	F148L	0.860
2:113075349:T:G	F148L	0.860
2:113075209:T:C	F102L	0.834
2:113075211:C:A	F102L	0.834
2:113075211:C:G	F102L	0.834
2:113075244:G:C	E113D	0.825
2:113075244:G:T	E113D	0.825
2:113075207:T:C	F101S	0.822
2:113075341:T:C	F146L	0.813
2:113075343:T:A	F146L	0.813
2:113075343:T:G	F146L	0.813
2:113074803:T:C	C67R	0.802
2:113075201:T:C	F99S	0.785
2:113074782:G:T	G60W	0.784
2:113074331:T:A	I12N	0.762
2:113074735:T:A	I44K	0.753
2:113075263:T:A	W120R	0.749

dbSNP variants (sampled 300 via entrez): RS1000241950 (2:113071815 A>AT), RS1000951100 (2:113066397 GC>G), RS1001509585 (2:113070508 A>T), RS1001677746 (2:113075585 T>C), RS1001980126 (2:113070318 G>A), RS1002051441 (2:113074087 C>A,G), RS1002798548 (2:113070474 T>A), RS1003179013 (2:113066383 A>G), RS1003362900 (2:113071857 T>A), RS1003441727 (2:113073043 G>A), RS1003504368 (2:113068030 A>G), RS1003845662 (2:113069049 T>C), RS1003913640 (2:113069765 T>G), RS1004184507 (2:113073350 G>A), RS1004401836 (2:113074854 A>T)

Disease associations

OMIM: gene MIM:615296 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): generalized pustular psoriasis (MONDO:0100491)

Orphanet (1): Generalized pustular psoriasis (Orphanet:247353)

HPO phenotypes

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

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST000965_2	C-reactive protein levels	2.000000e-17
GCST001650_9	C-reactive protein	9.000000e-10
GCST002147_10	Fibrinogen	6.000000e-19
GCST002255_3	Inflammatory biomarkers	2.000000e-26
GCST002987_16	Stroke	6.000000e-07
GCST003194_8	Fibrinogen levels	7.000000e-30
GCST003678_14	C-reactive protein levels or total cholesterol levels (pleiotropy)	6.000000e-17
GCST003679_6	C-reactive protein levels or LDL-cholesterol levels (pleiotropy)	1.000000e-11
GCST003681_10	C-reactive protein levels or triglyceride levels (pleiotropy)	5.000000e-15
GCST003927_5	Dysmenorrheic pain	7.000000e-07
GCST004121_21	Fibrinogen levels	4.000000e-24
GCST004122_36	Fibrinogen levels	2.000000e-23
GCST005196_205	Coronary artery disease	1.000000e-06
GCST006104_7	Interleukin-1-receptor antagonist levels	1.000000e-06
GCST007614_14	C-reactive protein levels	5.000000e-36
GCST007615_14	C-reactive protein levels	6.000000e-38
GCST009145_1	Total cholesterol levels	7.000000e-09
GCST010204_32	Low density lipoprotein cholesterol levels	2.000000e-08
GCST011350_13	C-reactive protein levels	4.000000e-10
GCST011365_92	Myocardial infarction	3.000000e-08
GCST012198_3	Interleukin-6 levels	2.000000e-11
GCST90011899_81	Aspartate aminotransferase levels	5.000000e-16
GCST90011900_170	Serum alkaline phosphatase levels	9.000000e-21
GCST90013663_84	Alanine aminotransferase levels	3.000000e-16
GCST90013664_48	Aspartate aminotransferase levels	3.000000e-26

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004754	interleukin 1 receptor antagonist measurement
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004530	triglyceride measurement
EFO:0007889	dysmenorrheic pain measurement
EFO:0004810	interleukin-6 measurement
EFO:0004736	aspartate aminotransferase measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
urushiol	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
hydroquinone	increases expression	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
CGP 52608	increases reaction, affects binding	1
Arsenic Trioxide	affects binding, decreases reaction	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	increases abundance, increases response to substance	1
Arsenic	affects expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Diethylhexyl Phthalate	increases abundance, increases methylation	1
Ivermectin	increases expression	1
Lipopolysaccharides	decreases reaction, increases expression	1
Silicon Dioxide	increases expression	1
Triclosan	decreases reaction, increases expression	1
Aflatoxin B1	increases methylation	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases response to substance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03942042	PHASE4	COMPLETED	A Study of Ixekizumab (LY2439821) in Participants in Japan With Generalized Pustular Psoriasis and Erythrodermic Psoriasis
NCT06013969	PHASE4	ACTIVE_NOT_RECRUITING	A Study to Test Whether Spesolimab Helps People With Generalized Pustular Psoriasis (GPP) Who Need Treatment for Repeated Flares
NCT02533375	PHASE3	COMPLETED	Study to Investigate Efficacy and Safety of Adalimumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP)
NCT05200247	PHASE3	COMPLETED	An Expanded Access Trial in Japan to Provide Spesolimab to People With a Flare-up in Generalized Pustular Psoriasis Who Have no Other Treatment Options
NCT05239039	PHASE3	COMPLETED	An Expanded Access Program in China to Provide Spesolimab to People With a Flare-up in Generalized Pustular Psoriasis Who Have no Other Treatment Options
NCT05352893	PHASE3	COMPLETED	Study to Evaluate the Efficacy and Safety of Imsidolimab (ANB019) in the Treatment of Subjects With GPP
NCT05366855	PHASE3	TERMINATED	Study to Evaluate the Long-Term Safety and Efficacy of Imsidolimab (ANB019) in the Treatment of Subjects With GPP
NCT06295692	PHASE3	ACTIVE_NOT_RECRUITING	A Study of JNJ-77242113 for the Treatment of Participants With Generalized Pustular Psoriasis or Erythrodermic Psoriasis
NCT06323356	PHASE3	ACTIVE_NOT_RECRUITING	A Study of TAK-279 in Adult Participants With Generalized Pustular Psoriasis or Erythrodermic Psoriasis
NCT03619902	PHASE2	COMPLETED	A Study to Evaluate the Efficacy and Safety of Imsidolimab (ANB019) in Adults With Generalized Pustular Psoriasis
NCT03782792	PHASE2	COMPLETED	Effisayil™ 1: A Study to Test Spesolimab (BI 655130) in Patients With a Flare-up of a Skin Disease Called Generalized Pustular Psoriasis
NCT03886246	PHASE2	ACTIVE_NOT_RECRUITING	Effisayil™ ON: A Study to Test Long-term Treatment With Spesolimab in People With Generalized Pustular Psoriasis Who Took Part in a Previous Study
NCT04399837	PHASE2	COMPLETED	A Study to Test Whether BI 655130 (Spesolimab) Prevents Flare-ups in Patients With Generalized Pustular Psoriasis
NCT06231381	PHASE2	RECRUITING	Efficacy and Safety of HB0034 in Patients with Generalized Pustular Psoriasis (GPP)
NCT07314060	PHASE2	RECRUITING	A Clinical Trial of TQH2929 Injection in Patients With Acute Flare-up of Generalized Pustular Psoriasis
NCT05512598	PHASE1	COMPLETED	HB0034 in Patients With Generalized Pustular Psoriasis (GPP)
NCT06433531	PHASE1	ACTIVE_NOT_RECRUITING	A Clinical Study of TQH2929 Injection in Treatment With Generalized Pustular Psoriasis (GPP)
NCT06477536	PHASE2/PHASE3	RECRUITING	Long-Term Safety and Efficacy of HB0034 in Subjects With Generalized Pustular Psoriasis
NCT04566471	Not specified	UNKNOWN	Palmoplantar Pustulosis and Generalized Pustular Psoriasis: A National Population-based Analysis of Prevalence
NCT05670821	Not specified	COMPLETED	PMS of Spesolimab I.V. in GPP Patients With Acute Symptoms
NCT06100991	Not specified	RECRUITING	CorEvitas Generalized Pustular Psoriasis (GPP) Drug Safety and Effectiveness Registry
NCT06391996	Not specified	COMPLETED	Biologic Therapy for Generalized Pustular Psoriasis
NCT06886009	Not specified	WITHDRAWN	Spesolimab Post-marketing Surveillance in Korean Patients With Flares With Generalized Pustular Psoriasis
NCT07428915	Not specified	COMPLETED	Evaluating Legit.Health Plus Support for Improving Diagnosis of Generalized Pustular Psoriasis and Other Skin Conditions Among Primary Care Physicians and Dermatologists
NCT07448428	Not specified	NOT_YET_RECRUITING	Generalized Pustular Psoriasis Registry in Costa Rica