OSMR (Oncostatin M Receptor)
Cytokine receptor gene involved in inflammation, fibrosis, and cancer
Gene Information Card
| Symbol | OSMR |
|---|---|
| Full Name | Oncostatin M Receptor |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.1 |
| NCBI Gene ID | 9180 ncbi.nlm.nih.gov/gene/9180 |
| Ensembl ID | ENSG00000145623 |
| UniProt ID | Q99650 |
| OMIM ID | 601743 |
| HGNC ID | 8501 |
| Aliases | OSMRB, IL-31R subunit beta, PLCA2 |
Description
The OSMR gene encodes the oncostatin M receptor (OSMR), a type I cytokine receptor that forms a heterodimer with IL-31RA to bind oncostatin M (OSM) and interleukin-31 (IL-31). OSMR is involved in the regulation of inflammation, hematopoiesis, liver regeneration, and fibrosis. Mutations in OSMR are associated with primary localized cutaneous amyloidosis (PLCA) and have been implicated in various cancers and inflammatory diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Localized Cutaneous Amyloidosis (PLCA) | Loss-of-function mutations in OSMR impair OSM/IL-31 signaling, leading to keratinocyte apoptosis and amyloid deposition in the skin. | OMIM #105250; ClinVar |
| Atopic Dermatitis | OSMR-mediated IL-31 signaling contributes to pruritus and skin inflammation. | ClinVar; PubMed |
| Cancer (various) | OSMR overexpression or aberrant signaling promotes tumor cell proliferation, invasion, and metastasis in breast, prostate, and gastric cancers. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.2 | High expression |
| A549 (lung carcinoma) | 9.8 | Moderate expression |
| MCF7 (breast cancer) | 7.1 | Low expression |
| HepG2 (hepatocellular) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.184G>A (p.Gly62Arg) | Missense | Rare | Loss of function; associated with PLCA |
| c.361C>T (p.Arg121Trp) | Missense | Rare | Loss of function; associated with PLCA |
| c.2000A>G (p.Asn667Ser) | Missense | Somatic | Gain of function; reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the extracellular domain (e.g., p.Gly62Arg, p.Arg121Trp) disrupt ligand binding and receptor dimerization, leading to impaired OSM/IL-31 signaling and cutaneous amyloidosis.
Gain of Function (GOF)
Somatic missense mutations (e.g., p.Asn667Ser) in the intracellular domain may enhance downstream JAK/STAT signaling, promoting oncogenic transformation.
Dominant Negative (DN)
Not well characterized; some OSMR mutations may exert dominant-negative effects by forming non-functional heterodimers with wild-type receptors.
View complete mutation data：
Gene Ontology (GO)
| • cytokine receptor activity (GO:0004896) | • cytokine-mediated signaling pathway (GO:0019221) |
| • signal transduction (GO:0007165) | • plasma membrane (GO:0005886) |
| • identical protein binding (GO:0042802) |
Pathways
• JAK-STAT signaling pathway (KEGG hsa04630)
• Cytokine-cytokine receptor interaction (KEGG hsa04060)
• IL-31 signaling pathway
Protein Summary
OSMR is a 979-amino acid transmembrane glycoprotein with an extracellular domain containing fibronectin type III repeats, a transmembrane region, and an intracellular domain with Box1/Box2 motifs for JAK binding. It forms a functional receptor complex with IL-31RA to mediate OSM and IL-31 signaling. OSMR activation leads to phosphorylation of JAK1, JAK2, and STAT3/STAT5, regulating gene expression involved in cell growth, differentiation, and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| OSMR & IL6ST Overexpression U2OS Stable Cell Line | EDJ-GQ82 | Human | 9180 & 3572 | Details Get a Quote |
| OSMR Knockout HEK293 Cell Line | EDJ-KQ514 | Human | 9180 | Details Get a Quote |
| OSMR Knockout A-549 Cell Line | EDJ-KQ18013 | Human | 9180 | Details Get a Quote |
| OSMR Knockout HCT 116 Cell Line | EDJ-KQ18840 | Human | 9180 | Details Get a Quote |
| OSMR Knockout HeLa Cell Line | EDJ-KQ18841 | Human | 9180 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
