IL36A (interleukin 36 alpha)

Gene

• Entrez ID: 27179
• Gene name: Interleukin 36 alpha
• Gene symbol: IL36A
• Synonyms (NCBI Gene): FIL1, FIL1(EPSILON), FIL1E, IL-1F6, IL1(EPSILON), IL1F6
• Chromosome: 2
• Chromosome location: 2q14.1
• Summary: The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition,

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IEA
GO:0002376	Process	Immune system process	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005149	Function	Interleukin-1 receptor binding	NAS	10625660
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	10625660
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:0006955	Process	Immune response	NAS	10625660
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IBA

Other IDs

• MIM: 605509
• HGNC: 15562
• e!Ensembl: ENSG00000136694

Protein

• UniProt ID: Q9UHA7
• Protein name: Interleukin-36 alpha (FIL1 epsilon) (Interleukin-1 epsilon) (IL-1 epsilon) (Interleukin-1 family member 6) (IL-1F6)
• Protein function: Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be
• PDB: 6HPI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00340	IL1	38 → 154	Interleukin-1 / 18	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in immune system and fetal brain, but not in other tissues tested or in multiple hematopoietic cell lines. Predominantly expressed in skin keratinocytes but not in fibroblasts, endothelial cells or melanocytes. Increased in l
• Sequence:

  MEKALKIDTPQQGSIQDINHRVWVLQDQTLIAVPRKDRMSPVTIALISCRHVETLEKDRG
  NPIYLGLNGLNLCLMCAKVGDQPTLQLKEKDIMDLYNQPEPVKSFLFYHSQSGRNSTFES
  VAFPGWFIAVSSEGGCPLILTQELGKANTTDFGLTMLF

• Sequence length: 158

Pathways

KEGG:

Cytokine-cytokine receptor interaction

Reactome:

Interleukin-36 pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Juvenile	Juvenile arthritis	Pubtator	35325069	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	29317264	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37318520	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	33713575	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	39191728	Stimulate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	39191728	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28621240		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	26560022	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25550854, 32013927	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	37446281, 38203575	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	28611508	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33034926	Stimulate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28621240		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30356900		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	29803800	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Lamellar ichthyosis	Pubtator	32544098	Stimulate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	28621240		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	30452921		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30643810	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26516833	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28621240		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37318520	Inhibit	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	30852049		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26560022	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	LHGDN	12110411		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	28099250		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	28611508	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	25550854, 37318520	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27815380		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	25902739	Associate	★☆☆☆☆ Found in Text Mining only