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.

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 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
Displaying Records 1 To 4 Of 4 Records
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