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	Relationship Type	References	Evidence Score
Arthritis Juvenile	Stimulate	35325069	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Associate	29317264	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Associate	37318520	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	33713575	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Stimulate	39191728	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Associate	39191728	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Inhibit	33713575	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Associate	26560022	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	25550854, 32013927	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Associate	37446281, 38203575	★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Stimulate	28611508	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Stimulate	33034926	★☆☆☆☆ Found in Text Mining only
Ichthyosis	Associate	29803800	★☆☆☆☆ Found in Text Mining only
Ichthyosis Lamellar	Stimulate	32544098	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	26560022, 27388993, 33034926, 33713575, 34428579, 37318520	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Associate	30643810	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Stimulate	26516833	★☆☆☆☆ Found in Text Mining only
Melanoma	Inhibit	37318520	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	25550854, 33713575	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	32013927, 37318520	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Associate	26560022	★☆☆☆☆ Found in Text Mining only
Pemphigus	Associate	28611508	★☆☆☆☆ Found in Text Mining only
Pruritic urticarial papules plaques of pregnancy	Associate	29317264	★☆☆☆☆ Found in Text Mining only
Psoriasis	Associate	25550854, 37318520	★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Associate	29901122	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Associate	25902739	★☆☆☆☆ Found in Text Mining only
Tuberculosis Meningeal	Associate	29901122	★☆☆☆☆ Found in Text Mining only