OSMR Chromosome 5
Oncostatin M receptor
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What This Gene Does
This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
Fibronectin type III domain containing
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000145623
Associated Conditions (5)
OSMR-related disorder
Inborn genetic diseases
Amyloidosis
primary localized cutaneous
1
Key Variants
RS113413897
Conflicting classifications of pathogenicity
OSMR-related disorder, Inborn genetic diseases, OSMR-related disorder
Health Risk
RS147042111
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201975697
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202145435
Conflicting classifications of pathogenicity
Amyloidosis, primary localized cutaneous, 1
Health Risk
RS34324145
Conflicting classifications of pathogenicity
OSMR-related disorder, OSMR-related disorder
Health Risk
RS771864692
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS63750567
Likely pathogenic
Amyloidosis, primary localized cutaneous, 1
Health Risk
RS387906821
Pathogenic
Amyloidosis, primary localized cutaneous, 1
Health Risk
RS387906823
Pathogenic
Amyloidosis, primary localized cutaneous, 1
Health Risk
RS63750560
Pathogenic
Amyloidosis, primary localized cutaneous, 1
Health Risk
RS387906822
Pathogenic/Likely pathogenic
Amyloidosis, primary localized cutaneous, 1
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113413897 | Health Risk | Conflicting classifications of pathogenicity | OSMR-related disorder, Inborn genetic diseases, OSMR-related disorder |
| RS147042111 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201975697 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202145435 | Health Risk | Conflicting classifications of pathogenicity | Amyloidosis, primary localized cutaneous, 1 |
| RS34324145 | Health Risk | Conflicting classifications of pathogenicity | OSMR-related disorder, OSMR-related disorder |
| RS771864692 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS63750567 | Health Risk | Likely pathogenic | Amyloidosis, primary localized cutaneous, 1 |
| RS387906821 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 1 |
| RS387906823 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 1 |
| RS63750560 | Health Risk | Pathogenic | Amyloidosis, primary localized cutaneous, 1 |
| RS387906822 | Health Risk | Pathogenic/Likely pathogenic | Amyloidosis, primary localized cutaneous, 1 |