Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26525
Gene name	Interleukin 36 receptor antagonist
Gene symbol	IL36RN
Synonyms (NCBI Gene)	FIL1FIL1(DELTA)FIL1DIL-36RaIL1F5IL1HY1IL1L1IL1RP3IL36RAPSORPPSORS14
Chromosome	2
Chromosome location	2q14.1
Summary	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 famil

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs77864207	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs139497891	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs144478519	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs148755083	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs151325121	C>T	Pathogenic	Missense variant, coding sequence variant
rs187015338	A>G	Pathogenic	Coding sequence variant, missense variant
rs199932303	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906914	T>C	Pathogenic	Coding sequence variant, missense variant
rs397514629	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant

Show/Hide all (90)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018357	hsa-miR-335-5p	Microarray	18185580
MIRT029800	hsa-miR-26b-5p	Microarray	19088304
MIRT051062	hsa-miR-16-5p	CLASH	23622248
MIRT1064931	hsa-miR-1207-5p	CLIP-seq
MIRT1064932	hsa-miR-1224-5p	CLIP-seq
MIRT1064933	hsa-miR-1243	CLIP-seq
MIRT1064934	hsa-miR-1248	CLIP-seq
MIRT1064935	hsa-miR-1257	CLIP-seq
MIRT1064936	hsa-miR-1297	CLIP-seq
MIRT1064937	hsa-miR-1303	CLIP-seq
MIRT1064938	hsa-miR-1304	CLIP-seq
MIRT1064939	hsa-miR-2110	CLIP-seq
MIRT1064940	hsa-miR-26a	CLIP-seq
MIRT1064941	hsa-miR-26b	CLIP-seq
MIRT1064942	hsa-miR-3120-3p	CLIP-seq
MIRT1064943	hsa-miR-3129-3p	CLIP-seq
MIRT1064944	hsa-miR-3159	CLIP-seq
MIRT1064945	hsa-miR-3184	CLIP-seq
MIRT1064946	hsa-miR-326	CLIP-seq
MIRT1064947	hsa-miR-330-5p	CLIP-seq
MIRT1064948	hsa-miR-338-3p	CLIP-seq
MIRT1064949	hsa-miR-3612	CLIP-seq
MIRT1064950	hsa-miR-3614-3p	CLIP-seq
MIRT1064951	hsa-miR-3674	CLIP-seq
MIRT1064952	hsa-miR-3929	CLIP-seq
MIRT1064953	hsa-miR-423-5p	CLIP-seq
MIRT1064954	hsa-miR-4271	CLIP-seq
MIRT1064955	hsa-miR-4419b	CLIP-seq
MIRT1064956	hsa-miR-4443	CLIP-seq
MIRT1064957	hsa-miR-4463	CLIP-seq
MIRT1064958	hsa-miR-4465	CLIP-seq
MIRT1064959	hsa-miR-4478	CLIP-seq
MIRT1064960	hsa-miR-4496	CLIP-seq
MIRT1064961	hsa-miR-4530	CLIP-seq
MIRT1064962	hsa-miR-4533	CLIP-seq
MIRT1064963	hsa-miR-4637	CLIP-seq
MIRT1064964	hsa-miR-4645-3p	CLIP-seq
MIRT1064965	hsa-miR-4667-5p	CLIP-seq
MIRT1064966	hsa-miR-4700-5p	CLIP-seq
MIRT1064967	hsa-miR-4711-3p	CLIP-seq
MIRT1064968	hsa-miR-4716-3p	CLIP-seq
MIRT1064969	hsa-miR-4725-3p	CLIP-seq
MIRT1064970	hsa-miR-4736	CLIP-seq
MIRT1064971	hsa-miR-4747-5p	CLIP-seq
MIRT1064972	hsa-miR-4751	CLIP-seq
MIRT1064973	hsa-miR-4763-3p	CLIP-seq
MIRT1064974	hsa-miR-4795-5p	CLIP-seq
MIRT1064975	hsa-miR-485-5p	CLIP-seq
MIRT1064976	hsa-miR-511	CLIP-seq
MIRT1064977	hsa-miR-552	CLIP-seq
MIRT1064978	hsa-miR-637	CLIP-seq
MIRT1064979	hsa-miR-650	CLIP-seq
MIRT1064935	hsa-miR-1257	CLIP-seq
MIRT1064980	hsa-miR-125a-3p	CLIP-seq
MIRT1064938	hsa-miR-1304	CLIP-seq
MIRT1064945	hsa-miR-3184	CLIP-seq
MIRT1064981	hsa-miR-3545-5p	CLIP-seq
MIRT1064982	hsa-miR-3934	CLIP-seq
MIRT1064953	hsa-miR-423-5p	CLIP-seq
MIRT1064968	hsa-miR-4716-3p	CLIP-seq
MIRT1064983	hsa-miR-4796-3p	CLIP-seq
MIRT1064984	hsa-miR-520g	CLIP-seq
MIRT1064985	hsa-miR-520h	CLIP-seq
MIRT1064986	hsa-miR-764	CLIP-seq
MIRT1550121	hsa-miR-3652	CLIP-seq
MIRT1550122	hsa-miR-4251	CLIP-seq
MIRT1550123	hsa-miR-4329	CLIP-seq
MIRT1550124	hsa-miR-4430	CLIP-seq
MIRT1550125	hsa-miR-4459	CLIP-seq
MIRT1550126	hsa-miR-4695-5p	CLIP-seq
MIRT1064975	hsa-miR-485-5p	CLIP-seq
MIRT2015443	hsa-miR-1976	CLIP-seq
MIRT2247752	hsa-miR-3065-3p	CLIP-seq
MIRT2247753	hsa-miR-512-5p	CLIP-seq
MIRT2551387	hsa-miR-185	CLIP-seq
MIRT2551388	hsa-miR-3607-5p	CLIP-seq
MIRT2551389	hsa-miR-4306	CLIP-seq
MIRT2551390	hsa-miR-4491	CLIP-seq
MIRT2551391	hsa-miR-4644	CLIP-seq
MIRT2551392	hsa-miR-4657	CLIP-seq
MIRT2551393	hsa-miR-4725-5p	CLIP-seq
MIRT2551394	hsa-miR-504	CLIP-seq
MIRT2551387	hsa-miR-185	CLIP-seq
MIRT2551388	hsa-miR-3607-5p	CLIP-seq
MIRT2551389	hsa-miR-4306	CLIP-seq
MIRT2551390	hsa-miR-4491	CLIP-seq
MIRT2551391	hsa-miR-4644	CLIP-seq
MIRT2551392	hsa-miR-4657	CLIP-seq
MIRT2551393	hsa-miR-4725-5p	CLIP-seq
MIRT2551394	hsa-miR-504	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001960	Process	Negative regulation of cytokine-mediated signaling pathway	IMP	23147407
GO:0002376	Process	Immune system process	IEA
GO:0005125	Function	Cytokine activity	IEA
GO:0005149	Function	Interleukin-1 receptor binding	IEA
GO:0005152	Function	Interleukin-1 receptor antagonist activity	TAS	10512743
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006954	Process	Inflammatory response	IEA
GO:0006955	Process	Immune response	IBA
GO:0006955	Process	Immune response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0019732	Process	Antifungal humoral response	IMP	23147407
GO:0032689	Process	Negative regulation of type II interferon production	IMP	23147407
GO:0032700	Process	Negative regulation of interleukin-17 production	IMP	23147407
GO:0032715	Process	Negative regulation of interleukin-6 production	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IBA

MIM	HGNC	e!Ensembl
605507	15561	ENSG00000136695

Q9UBH0

Protein name

Interleukin-36 receptor antagonist protein (IL-36Ra) (FIL1 delta) (IL-1-related protein 3) (IL-1RP3) (Interleukin-1 HY1) (IL-1HY1) (Interleukin-1 delta) (IL-1 delta) (Interleukin-1 family member 5) (IL-1F5) (Interleukin-1 receptor antagonist homolog 1) (I

Protein function

Inhibits the activity of interleukin-36 (IL36A,IL36B and IL36G) by binding to receptor IL1RL2 and preventing its association with the coreceptor IL1RAP for signaling. Part of the IL-36 signaling system that is thought to be present in epithelial

PDB

4P0J , 4P0K , 4P0L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00340	IL1	38 → 151	Interleukin-1 / 18	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in skin keratinocytes but not in fibroblasts, endothelial cells or melanocytes. Detected also in the spleen, brain leukocyte and macrophage cell types. Increased in lesional psoriasis skin. {ECO:0000269|PubMed:1

Sequence

MVLSGALCFRMKDSALKVLYLHNNQLLAGGLHAGKVIKGEEISVVPNRWLDASLSPVILG
VQGGSQCLSCGVGQEPTLTLEPVNIMELYLGAKESKSFTFYRRDMGLTSSFESAAYPGWF
LCTVPEADQPVRLTQLPENGGWNAPITDFYFQQCD

Sequence length

155

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction		Interleukin-36 pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acrodermatitis continua suppurativa of Hallopeau	Likely pathogenic; Pathogenic	rs144478519, rs387906914, rs148755083, rs397514629	RCV003328076 RCV002508133 RCV002508136 RCV002508137	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammatory syndrome	Likely pathogenic; Pathogenic	rs148755083	RCV002262597	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized pustular psoriasis	Likely pathogenic; Pathogenic	rs1489262806, rs747464195, rs2466802788, rs1685627126, rs2466805738, rs387906914, rs148755083	RCV001377160 RCV002599669 RCV002824537 RCV003528986 RCV003641134 RCV000023446 RCV000033132 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IL36RN-related disorder	Likely pathogenic; Pathogenic	rs148755083	RCV003914894	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Deficiency of the interleukin-36 receptor antagonist	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DITRA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS 14, PUSTULAR	—	GWAS catalog, GenCC, HPO GWAS catalog, GenCC, HPO GWAS catalog, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VON ZUMBUSCHS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Achondroplasia	Achondroplasia	BEFREE	23428889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Achondroplasia	Achondroplasia	Pubtator	30036598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrodermatitis continua of Hallopeau	Acrodermatitis Continua Of Hallopeau	ORPHANET_DG	23303454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrodermatitis continua of Hallopeau	Acrodermatitis Continua Of Hallopeau	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acrodermatitis continua of Hallopeau	Acrodermatitis Continua Of Hallopeau	BEFREE	24656634, 26589685, 29422292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	27542682, 28887889, 29896852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	11841485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	11841485		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	35325069	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	29571080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoinflammatory disorder	Autoinflammatory Disease	GENOMICS_ENGLAND_DG	22903787		★★★★★ ★☆☆☆☆ Found in Text Mining only
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE	Autoinflammatory Disease	BEFREE	31353537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	32303241	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	21839423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	30643810	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31068441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29203183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	25688670, 29422292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33034926	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
DITRA	PALMOPLANTAR PUSTULOSIS	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dry Eye Syndromes	Dry eye syndrome	Pubtator	34428579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Folliculitis	Folliculitis	BEFREE	31424098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	21839423, 21848462, 22903787, 23428889, 23698098, 23834760, 24129779, 24656634, 24898045, 25212972, 25409173, 26589685, 26627198, 27096382, 27220475 View all (18 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized pustular psoriasis	Pustular Psoriasis	CLINVAR_DG	21839423, 21848462, 22903787, 23303454, 23428889, 23648549, 23698098, 23863864, 24979538, 25989471, 26589685, 27096382, 27220475, 28063630		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized pustular psoriasis	Pustular Psoriasis	ORPHANET_DG	21839423, 24131530		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized pustular psoriasis	Pustular Psoriasis	UNIPROT_DG	21839423, 21848462, 22903787		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized pustular psoriasis	Pustular Psoriasis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Generalized pustular psoriasis	Pustular Psoriasis	GENOMICS_ENGLAND_DG	22903787, 27388993		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hidradenitis Suppurativa	Hidradenitis suppurativa	BEFREE	28602023, 28975626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30643810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30643810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	21839423, 29203183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	28583914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	29891552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26632693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	LHGDN	16211343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34272761	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	21242515, 24129779, 25688670, 25897967, 26701127, 27220475, 28602023, 31156649		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	21839423, 27900482, 28194751, 30036598, 30395846, 30634937, 31286990, 31789248, 36331855	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	23698098, 24129779, 25212972, 25409173, 27542682, 29422292, 30075588, 30474867		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustular psoriasis	Pustular Psoriasis	GENOMICS_ENGLAND_DG	22903787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustular psoriasis	Pustular Psoriasis	BEFREE	26589685, 28887889, 28967976, 29422292, 29896852, 30634937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	ORPHANET_DG	23303454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	BEFREE	27542682, 29422292, 29896852, 31789248		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustulosis of Palms and Soles	Palmoplantar Pustules	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pustulosis palmaris et plantaris	Palmoplantar Pustules	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	21839423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	28063630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26632693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26632693	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
USHER SYNDROME, TYPE IG	Usher Syndrome	BEFREE	25861020		★★★★★ ★☆☆☆☆ Found in Text Mining only

IL36RN (interleukin 36 receptor antagonist)