IL31RA Gene
Interleukin 31 Receptor A: Role in Pruritus and Atopic Dermatitis
Gene Information Card
| Symbol | IL31RA |
|---|---|
| Full Name | interleukin 31 receptor A |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 133396 ncbi.nlm.nih.gov/gene/133396 |
| Ensembl ID | ENSG00000164588 |
| UniProt ID | Q8NI17 |
| OMIM ID | 609510 |
| HGNC ID | 14372 |
| Aliases | CRL3, GLM-R, hGLM-R, IL-31RA, GPL, PLCA2 |
Description
IL31RA encodes the interleukin 31 receptor A, a subunit of the IL-31 receptor complex. This receptor heterodimerizes with oncostatin M receptor (OSMR) to mediate IL-31 signaling, which is involved in immune responses, particularly in skin inflammation and pruritus (itching). The gene is expressed in various tissues including skin, lung, and dorsal root ganglia. Variants in IL31RA are associated with atopic dermatitis and other inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atopic Dermatitis | IL-31 signaling through IL31RA/OSMR complex promotes pruritus and inflammation in skin | ClinVar, OMIM |
| Pruritus (chronic itching) | IL31RA activation in sensory neurons triggers itch pathways | NCBI, UniProt |
| Asthma | IL-31/IL31RA axis contributes to airway inflammation and hyperresponsiveness | OMIM, literature |
| Allergic Rhinitis | Elevated IL-31 levels and IL31RA expression in nasal mucosa | NCBI, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Low |
| Spinal Cord | 6.1 | Low |
| Dorsal Root Ganglia | 15.2 | Medium |
| Trachea | 9.7 | Low |
| Testis | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 18.4 | High expression |
| A549 (lung epithelial) | 7.2 | Moderate |
| HEK293 | 2.1 | Low |
| Jurkat (T cells) | 1.5 | Very low |
| THP-1 (monocytes) | 3.8 | Low |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1073G>A (p.Arg358Gln) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.1672C>T (p.Arg558Trp) | missense | 0.005% | Reported in atopic dermatitis |
| c.1960_1961del (p.Leu654fs) | frameshift | Rare | Loss of function |
| c.1246A>G (p.Asn416Asp) | missense | 0.02% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu654fs) lead to truncated protein and impaired IL-31 signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in IL31RA.
Dominant Negative (DN)
No dominant-negative mutations described for IL31RA.
View complete mutation data:
Gene Ontology (GO)
Pathways
• IL-31 signaling pathway (Reactome: R-HSA-6783589)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• JAK-STAT signaling pathway (KEGG: hsa04630)
Protein Summary
IL31RA is a transmembrane glycoprotein of approximately 110 kDa, belonging to the type I cytokine receptor family. It contains an extracellular domain with fibronectin type III repeats and a WSXWS motif, a transmembrane domain, and an intracellular region with Box1/Box2 motifs for JAK binding. Upon IL-31 binding, IL31RA heterodimerizes with OSMR, activating JAK1/JAK2 and STAT3/STAT5 pathways, leading to gene expression changes involved in inflammation and pruritus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL31RA Knockout HEK293 Cell Line | EDJ-KQ3651 | Human | 133396 | Details Get a Quote |
| IL31RA Knockout A-549 Cell Line | EDJ-KQ25620 | Human | 133396 | Details Get a Quote |
| IL31RA Knockout HeLa Cell Line | EDJ-KQ58326 | Human | 133396 | Details Get a Quote |
| IL31RA Knockout HCT 116 Cell Line | EDJ-KQ75217 | Human | 133396 | Details Get a Quote |
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