IL1R2
Homo sapiens
Gene Name: interleukin 1 receptor, type II
Aliases: IL1RB, CD121b
Chromosome No: 2
Chromosome Band: 2q11.2
Genetic Category: Rare Single Gene variant
Aliases: IL1RB, CD121b
Chromosome No: 2
Chromosome Band: 2q11.2
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 8
Recent Reports: 3
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
ASD Reports: 8
Recent Reports: 3
Annotated variants: 5
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the IL1R2 gene have been identified with autism (O'Roak et al., 2011; Sanders et al., 2012).
Molecular Function
Receptor for interleukin-1 alpha, beta, and interleukin-1 receptor antagonist protein.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Highly Cited
Interleukin-1 type II receptor: a decoy target for IL-1 that is regulated by IL-4.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Recent Recommendation
Alternate splicing of interleukin-1 receptor type II (IL1R2) in vitro correlates with clinical glucocorticoid responsiveness in patients with AIED.