IL1RAPL2
Homo sapiens
Gene Name: interleukin 1 receptor accessory protein-like 2
Aliases: IL-1R9, IL1R9, IL1RAPL-2, TIGIRR-1
Chromosome No: X
Chromosome Band: Xq22.3
Genetic Category: Genetic Association-Rare single gene variant
Aliases: IL-1R9, IL1R9, IL1RAPL-2, TIGIRR-1
Chromosome No: X
Chromosome Band: Xq22.3
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 14
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 14
Evidence score: null
| Associated Disorders: |
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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).
Molecular Function
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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males.
ASD
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN302C001
intron_variant
rs9887672
c.1193-3016C>T
T/C
HIHG/CHGR, AGRE, ACC
Discovery
GEN302C002
intron_variant
rs10218388
c.1049-4004T>C
HIHG/CHGR, AGRE, ACC
Discovery
GEN302C003
intron_variant
rs5962575
c.903-3035T>C
C/T
HIHG/CHGR, AGRE, ACC
Discovery
