IL1RAPL2 Gene: Interleukin 1 Receptor Accessory Protein Like 2
Comprehensive gene information for IL1RAPL2, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | IL1RAPL2 |
|---|---|
| Full Name | Interleukin 1 Receptor Accessory Protein Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 26280 ncbi.nlm.nih.gov/gene/26280 |
| Ensembl ID | ENSG00000169359 |
| UniProt ID | Q9NP60 |
| OMIM ID | 300277 |
| HGNC ID | 5999 |
| Aliases | IL1RAPL-2, IL1RAPL2A, IL1RAPL2B, TIGIRR2 |
Description
IL1RAPL2 (Interleukin 1 Receptor Accessory Protein Like 2) is a protein-coding gene located on the X chromosome. It encodes a member of the interleukin-1 receptor family, which is involved in the regulation of immune and inflammatory responses. The protein is characterized by three extracellular immunoglobulin-like domains and a cytoplasmic Toll/interleukin-1 receptor (TIR) domain. IL1RAPL2 is primarily expressed in the brain and is implicated in neuronal development and synaptic function. Mutations in this gene have been associated with X-linked intellectual disability and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in IL1RAPL2 disrupt synaptic signaling and neuronal development. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in IL1RAPL2 may contribute to altered synaptic plasticity and social behavior deficits. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 3.2 | Low |
| Lung | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U-87 MG (glioblastoma) | 6.4 | Glial model |
| HEK293 (embryonic kidney) | 0.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Ter) | Nonsense | Rare | Loss of function |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Likely damaging |
| c.1891_1892del (p.Leu631ValfsTer3) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, associated with X-linked intellectual disability.
Gain of Function (GOF)
Not reported in IL1RAPL2.
Dominant Negative (DN)
Not reported in IL1RAPL2.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • signal transduction (GO:0007165) |
| • integral component of membrane (GO:0016021) | • leukocyte chemotaxis (GO:0030595) |
| • synapse (GO:0045202) |
Pathways
• Interleukin-1 signaling pathway (Reactome: R-HSA-446652)
• Toll-like receptor signaling pathway (KEGG: hsa04620)
Protein Summary
The IL1RAPL2 protein (UniProt Q9NP60) is a 696-amino acid single-pass type I membrane protein. It contains three extracellular immunoglobulin-like domains and a cytoplasmic TIR domain. The protein is involved in the regulation of neuronal development and synaptic function, likely through modulation of the interleukin-1 signaling pathway. It is predominantly expressed in the brain, particularly in the hippocampus and cortex.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL1RAPL2 Knockout HEK293 Cell Line | EDJ-KQ8503 | Human | 26280 | Details Get a Quote |
| IL1RAPL2 Knockout HeLa Cell Line | EDJ-KQ55919 | Human | 26280 | Details Get a Quote |
| IL1RAPL2 Knockout A-549 Cell Line | EDJ-KQ64409 | Human | 26280 | Details Get a Quote |
| IL1RAPL2 Knockout HCT 116 Cell Line | EDJ-KQ72861 | Human | 26280 | Details Get a Quote |
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