Aliases: IL-1R9, IL1R9, IL1RAPL-2, TIGIRR-1
Chromosome No: X
Chromosome Band: Xq22.3
Genetic Category: Genetic Association-Rare single gene variant
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 14
Evidence score: null
Relevance to Autism
Genetic association has been found between the IL1RAPL2 gene and males with ASD in the HIHG/CHGR, AGRE and ACC cohorts (Chung et al., 2011).
The protein encoded by this gene is a member of the interleukin 1 receptor family. This protein is similar to the interleukin 1 accessory proteins, and is most closely related to interleukin 1 receptor accessory protein-like 1 (IL1RAPL1). This gene and IL1RAPL1 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation.