Gene: IL36RN

Alternate names for this Gene: FIL1|FIL1(DELTA)|FIL1D|IL-36Ra|IL1F5|IL1HY1|IL1L1|IL1RP3|IL36RA|PSORP|PSORS14

Gene 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 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.1

Description of this Gene: interleukin 36 receptor antagonist

Type of Gene: protein-coding

rs139497891 in IL36RN gene and Generalized pustular psoriasis PMID 23648549 2013 Mutations in IL36RN in patients with generalized pustular psoriasis.

PMID 26589685 2016 Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

PMID 25989471 2015 Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

PMID 27096382 2016 Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status.

PMID 23863864 2013 Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris.

PMID 27220475 2016 IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

PMID 21839423 2011 Mutations in IL36RNIL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

PMID 23428889 2013 Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.

PMID 21848462 2011 Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis.

PMID 23303454 2013 Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

PMID 22903787 2013 Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis.

PMID 24979538 2015 Mutation analysis of IL36RN in a Chinese Daur family with generalized pustular psoriasis.

PMID 28063630 2017 Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.

PMID 23698098 2013 The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

rs1446519 in IL36RN gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.