IL36RN interleukin 36 receptor antagonist [Homo sapiens (human)] - Gene

Summary

Official Symbol: IL36RNprovided by HGNC
Official Full Name: interleukin 36 receptor antagonistprovided by HGNC
Primary source: HGNC:HGNC:15561
See related: Ensembl:ENSG00000136695 MIM:605507; AllianceGenome:HGNC:15561
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FIL1; FIL1D; IL1F5; IL1L1; PSORP; IL1HY1; IL1RP3; IL36RA; IL-36Ra; PSORS14; FIL1(DELTA)
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. [provided by RefSeq, Jul 2008]
Expression: Biased expression in skin (RPKM 14.6), esophagus (RPKM 6.5) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 2q14.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (113058638..113064744)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (113485166..113491272)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (113816215..113822321)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex.
Title: In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex.
Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia.
Title: Clinical profile of patients with acute generalized pustular psoriasis with and without IL36RN mutations in multi-ethnic Johor Bahru, Malaysia.
Deficiency of interleukin-36 receptor antagonist (DITRA): An analysis of 58 Chinese patients in a tertiary hospital in Taiwan.
Title: Deficiency of interleukin-36 receptor antagonist (DITRA): An analysis of 58 Chinese patients in a tertiary hospital in Taiwan.
Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.
Title: Identification of the BTN3A3 Gene as a Molecule Implicated in Generalized Pustular Psoriasis in a Chinese Population.
Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.
Title: Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.
Different Clinical Features of Pediatric Generalized Pustular Psoriasis in Patients with or without IL36RN Variants.
Title: Different Clinical Features of Pediatric Generalized Pustular Psoriasis in Patients with or without IL36RN Variants.
IL-36 Cytokines: Their Roles in Asthma and Potential as a Therapeutic.
Title: IL-36 Cytokines: Their Roles in Asthma and Potential as a Therapeutic.
IL-36gamma and IL-36Ra Reciprocally Regulate NSCLC Progression by Modulating GSH Homeostasis and Oxidative Stress-Induced Cell Death.
Title: IL-36γ and IL-36Ra Reciprocally Regulate NSCLC Progression by Modulating GSH Homeostasis and Oxidative Stress-Induced Cell Death.
Down-regulated IL36RN expression based on peripheral blood mononuclear cells and plasma of periodontitis patients and its clinical significance.
Title: Down-regulated IL36RN expression based on peripheral blood mononuclear cells and plasma of periodontitis patients and its clinical significance.
Novel IL36RN Mutation Identified in Pediatric-Onset Generalized Pustular Psoriasis Causes IL36 Antagonist Degradation.
Title: Novel IL36RN Mutation Identified in Pediatric-Onset Generalized Pustular Psoriasis Causes IL36 Antagonist Degradation.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acrodermatitis continua suppurativa of Hallopeau MedGen: C0392439 OMIM: 614204 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables interleukin-1 receptor antagonist activity	TAS Traceable Author Statement more info	PubMed
enables interleukin-1 receptor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antifungal humoral response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
involved_in cytokine production	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in inflammatory response	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-17 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of interleukin-6 production	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interleukin-36 receptor antagonist protein

Names: IL-1 related protein 3; IL-1F5 (IL-1HY1, FIL1-delta, IL-1RP3, IL-1L1, IL-1-delta); IL-1ra homolog 1; IL1F5 (Canonical product IL-1F5a); interleukin 1 family, member 5 (delta); interleukin-1 HY1; interleukin-1 receptor antagonist homolog 1; interleukin-1-like protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_031864.1 RefSeqGene

Range

5001..11107

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_730

mRNA and Protein(s)

NM_012275.3 → NP_036407.1 interleukin-36 receptor antagonist protein

See identical proteins and their annotated locations for NP_036407.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC016724, AF186094

Consensus CDS

CCDS2111.1

UniProtKB/Swiss-Prot

A8K2I4, Q56AT9, Q7RTZ6, Q9UBH0

Related

ENSP00000376896.2, ENST00000393200.7

Conserved Domains (1) summary

cl00094
Location:9 → 152

IL1; Interleukin-1 homologes; Cytokines with various biological functions. Interleukin 1 alpha and beta are also known as hematopoietin and catabolin. This family also contains interleukin-1 receptor antagonists (inhibitors).
NM_173170.1 → NP_775262.1 interleukin-36 receptor antagonist protein

See identical proteins and their annotated locations for NP_775262.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC016724, AF186094, BC024747

Consensus CDS

CCDS2111.1

UniProtKB/Swiss-Prot

A8K2I4, Q56AT9, Q7RTZ6, Q9UBH0

Related

ENSP00000259212.3, ENST00000346807.7

Conserved Domains (1) summary

cl00094
Location:9 → 152

IL1; Interleukin-1 homologes; Cytokines with various biological functions. Interleukin 1 alpha and beta are also known as hematopoietin and catabolin. This family also contains interleukin-1 receptor antagonists (inhibitors).