OSMR
Domain
The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.
Function
Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events.
Involvement in disease
Amyloidosis, primary localized cutaneous, 1
PLCA1
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the type I cytokine receptor family. Type 2 subfamily.
Tissue Specificity
Expressed in keratinocytes (at protein level) (PubMed:21261663). Expressed at relatively high levels in all neural cells as well as fibroblast and epithelial cells (PubMed:8999038).
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
OSMRB, OSMR, Oncostatin-M-specific receptor subunit beta, Interleukin-31 receptor subunit beta, IL-31 receptor subunit beta, IL-31R subunit beta, IL-31R-beta, IL-31RB