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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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IL1RAPL2
interleukin 1 receptor accessory protein like 2
Chromosome X · Xq22.3
NCBI Gene: 26280Ensembl: ENSG00000189108.14HGNC: HGNC:5997UniProt: Q9NP60
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedReceptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of presynapse assemblyglutamatergic synapsecell surface receptor signaling pathwayosteoarthritis, hipcentral nervous system cancernon-small cell lung carcinomaautism
✦AI Summary

IL1RAPL2 is an X-linked gene encoding an interleukin-1 receptor accessory protein-like molecule specifically expressed in the central nervous system 1. The protein localizes to the plasma membrane and functions in glutamatergic synapses, regulating presynapse assembly and participating in cell surface receptor signaling [GO annotations]. IL1RAPL2 shares 70.4% similarity with IL1RAPL1, a calcium-regulated gene implicated in vesicle release and dendrite differentiation 1. IL1RAPL2 is implicated in neurodevelopmental disorders. It was identified as a candidate gene for X-linked mental retardation (XLMR) 1 and has been investigated in autism spectrum disorders, though direct mutations in IL1RAPL2 have not been definitively established as causative 23. Notably, IL1RAPL2 was identified as a key gene marker for retinal ganglion cell development during fetal retina development 4. Beyond neurodevelopment, IL1RAPL2 demonstrates broader disease relevance. It was identified as a differential biomarker associated with cortical brain aging and expression correlated with aging status in plasma proteome studies 5. Additionally, IL1RAPL2 expression is altered in esophageal squamous cell carcinoma 6 and melanoma metastasis 7, with significant downregulation observed in cutaneous melanoma metastases. GRPR signaling in colorectal cancer can affect IL1RAPL2 expression 8, suggesting roles in cancer biology.

Sources cited
1
IL1RAPL2 maps to Xq22, is specifically expressed in the CNS, shares 70.4% similarity with IL1RAPL1, and is a candidate gene for X-linked mental retardation
PMID: 11587848
2
IL1RAPL2 is identified as a differential biomarker correlated with cortical brain aging in plasma proteome and cortex transcriptome analysis
PMID: 37539343
3
IL1RAPL2 was screened as a candidate gene for autism spectrum disorders and X-linked mental retardation in fine mapping studies of Xq11.1-q21.33
PMID: 21384559
4
IL1RAPL2 is identified as a key gene marker for retinal ganglion cell development during fetal retina development
PMID: 40531615
5
IL1RAPL2 is identified as a tumor grade-related mRNA in esophageal squamous cell carcinoma
PMID: 33960436
6
IL1RAPL2 expression is significantly downregulated in cutaneous melanoma metastases compared to primary tumors
PMID: 41096602
7
GRPR signaling affects IL1RAPL2 expression in colorectal cancer cells
PMID: 22704345
8
IL1RAPL2 coding region screening in autism cohorts failed to identify non-synonymous variants, contrasting with related gene IL1RAPL1 mutations found in autism
PMID: 18801879
Disease Associationsⓘ20
osteoarthritis, hipOpen Targets
0.12Weak
central nervous system cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
autismOpen Targets
0.01Suggestive
autism spectrum disorderOpen Targets
0.01Suggestive
migraine disorderOpen Targets
0.01Suggestive
primary biliary cirrhosisOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
bipolar disorderOpen Targets
0.01Suggestive
lobular neoplasiaOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
congenital bilateral aplasia of vas deferens from CFTR mutationOpen Targets
0.00Suggestive
esophageal squamous cell carcinomaOpen Targets
0.00Suggestive
psychiatric disorderOpen Targets
0.00Suggestive
Intellectual disabilityOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
Global developmental delayOpen Targets
0.00Suggestive
Schinzel-Giedion syndromeOpen Targets
0.00Suggestive
kidney diseaseOpen Targets
0.00Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTPRDProtein interaction83%LILRA6Shared pathway33%PROP1Shared pathway33%LILRB5Shared pathway29%MDGA1Shared pathway29%MSI1Shared pathway25%
Tissue Expression6 tissues
Liver
100%
Brain
57%
Heart
30%
Ovary
26%
Bone Marrow
3%
Lung
0%
Gene Interaction Network
Click a node to explore
IL1RAPL2PTPRDLILRA6PROP1LILRB5MDGA1MSI1
PROTEIN STRUCTURE
Preparing viewer…
PDB7SZL · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.07 [0.03–0.18]
RankingsWhere IL1RAPL2 stands among ~20K protein-coding genes
  • #14,718of 20,598
    Most Researched18
  • #318of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedIL1RAPL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Screening of tumor grade-related mRNAs and lncRNAs for Esophagus Squamous Cell Carcinoma.
PMID: 33960436
J Clin Lab Anal · 2021
1.00
2
Integrated analysis of plasma proteome and cortex single-cell transcriptome reveals the novel biomarkers during cortical aging.
PMID: 37539343
Front Aging Neurosci · 2023
0.90
3
IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system.
PMID: 11587848
Gene · 2001
0.80
4
Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).
PMID: 21384559
Autism Res · 2011
0.70
5
Machine Learning Identifies Key Gene Markers Related to Fetal Retina Development at Single-Cell Transcription Level.
PMID: 40531615
Invest Ophthalmol Vis Sci · 2025
0.60