IL10RB Gene

Interleukin 10 Receptor Subunit Beta: A Key Component in Cytokine Signaling and Immune Regulation

Gene Information Card

Symbol IL10RB
Full Name Interleukin 10 Receptor Subunit Beta
Gene Type Protein coding
Chromosomal Location 21q22.11
NCBI Gene ID 3588 ncbi.nlm.nih.gov/gene/3588
Ensembl ID ENSG00000100251
UniProt ID Q08334
OMIM ID 123889
HGNC ID 5965
Aliases CRFB4, D21S58, IL-10R2, IL-10RB, CDW210B

Description

The IL10RB gene encodes the beta subunit of the interleukin-10 receptor (IL-10R2), a transmembrane protein essential for mediating the anti-inflammatory and immunomodulatory effects of interleukin-10 (IL-10). This subunit is also shared by receptors for other cytokines, including IL-22, IL-26, IL-28A, IL-28B, and IL-29, making it a critical component in the signaling pathways of the IL-10 family of cytokines. Mutations in IL10RB are associated with early-onset inflammatory bowel disease and other immune dysregulation disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Inflammatory Bowel Disease 28 (IBD28) Loss-of-function mutations impair IL-10 signaling, leading to uncontrolled intestinal inflammation ClinVar, OMIM
Primary immunodeficiency with defective IL-10 signaling Disrupted IL-10 receptor function compromises immune regulation, increasing susceptibility to infections and autoinflammation NCBI Gene, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Lymph node 12.5 Medium
Spleen 11.8 Medium
Small intestine 10.2 Medium
Colon 9.7 Medium
Lung 8.4 Medium
Bone marrow 7.6 Low
Cell Line Expression
Cell Line nTPM Notes
Monocytes 15.3 High expression
Macrophages 14.1 High expression
B lymphocytes 12.0 Medium expression
T lymphocytes 10.5 Medium expression
Dendritic cells 13.2 High expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.537G>A (p.Trp179*) Nonsense Rare Loss of function; truncated protein
c.676C>T (p.Arg226*) Nonsense Rare Loss of function; premature stop codon
c.800T>C (p.Leu267Pro) Missense Rare Loss of function; impaired receptor signaling
Mutation functional classification

Loss of Function (LOF)

Loss-of-function mutations in IL10RB disrupt IL-10 receptor signaling, leading to defective anti-inflammatory responses and contributing to severe early-onset inflammatory bowel disease.

Gain of Function (GOF)

No gain-of-function mutations have been reported for IL10RB.

Dominant Negative (DN)

No dominant-negative mutations have been described for IL10RB.

Gene Ontology (GO)

• Interleukin-10 receptor activity • Interleukin-22 receptor activity
• Interleukin-28 receptor activity • Cytokine receptor activity
• Signal transduction • Immune response
• Cell surface receptor signaling pathway

Pathways

• IL-10 signaling pathway
• IL-22 signaling pathway
• IL-28/29 (IFN-lambda) signaling pathway
• Cytokine-cytokine receptor interaction

Protein Summary

The IL-10 receptor beta (IL-10R2) is a type I transmembrane protein that forms a functional receptor complex with the alpha subunit (IL-10R1) for IL-10 binding. It is also a shared component of receptors for IL-22, IL-26, and type III interferons (IFN-lambda). The protein contains extracellular fibronectin type III domains and a cytoplasmic region that associates with JAK1 and TYK2 kinases to activate STAT3 signaling. IL-10R2 is ubiquitously expressed, with higher levels in immune cells, and is essential for mediating the anti-inflammatory effects of IL-10.

Related Products

Product name Cat.No. Species Gene ID
IL10RB Knockout HeLa Cell Line EDJ-KQ17949 Human 3588 Details Get a Quote
IL10RB Knockout HEK293 Cell Line EDJ-KQ50390 Human 3588 Details Get a Quote
IL10RB Knockout A-549 Cell Line EDJ-KQ62121 Human 3588 Details Get a Quote
IL10RB Knockout HCT 116 Cell Line EDJ-KQ70609 Human 3588 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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