Human Gene OSMR (ENST00000274276.8) from GENCODE V44
  Description: Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. (from RefSeq NM_003999)
RefSeq Summary (NM_003999): 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].
Gencode Transcript: ENST00000274276.8
Gencode Gene: ENSG00000145623.13
Transcript (Including UTRs)
   Position: hg38 chr5:38,846,012-38,935,641 Size: 89,630 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg38 chr5:38,869,045-38,933,444 Size: 64,400 Coding Exon Count: 17 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:38,846,012-38,935,641)mRNA (may differ from genome)Protein (979 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OSMR_HUMAN
DESCRIPTION: RecName: Full=Oncostatin-M-specific receptor subunit beta; AltName: Full=Interleukin-31 receptor subunit beta; Short=IL-31 receptor subunit beta; Short=IL-31R subunit beta; Short=IL-31R-beta; Short=IL-31RB; Flags: Precursor;
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.
SUBUNIT: Heterodimer composed of OSMR and IL6ST (type II OSM receptor). Heterodimer with IL31RA to form the IL31 receptor.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Expressed at relatively high levels in all neural cells as well as fibroblast, epithelial and a variety of tumor cell lines.
INDUCTION: Activated by oncostatin-M. Up-regulated by IFNG/IFN- gamma and bacterial lipopolysaccharides (LPS).
DOMAIN: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell- surface receptor binding (By similarity).
DOMAIN: The box 1 motif is required for JAK interaction and/or activation (By similarity).
DISEASE: Defects in OSMR are the cause of amyloidosis primary localized cutaneous type 1 (PLCA1) [MIM:105250]; also known as familial lichen amyloidosis or familial cutaneous lichen amyloidosis. PLCA1 is a hereditary 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 (lichenification) that may be exacerbated by chronic scratching and rubbing. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
SIMILARITY: Belongs to the type I cytokine receptor family. Type 2 subfamily.
SIMILARITY: Contains 4 fibronectin type-III domains.
SEQUENCE CAUTION: Sequence=AAH63468.1; Type=Erroneous termination; Positions=216; Note=Translated as Glu; Sequence=AAH63468.1; Type=Frameshift; Positions=232, 288;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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-  MalaCards Disease Associations
  MalaCards Gene Search: OSMR
Diseases sorted by gene-association score: amyloidosis, primary localized cutaneous, 1* (1331), primary cutaneous amyloidosis* (374), amyloidosis (21), breast ductal adenoma (17), dermatographia (16), fox-fordyce disease (16), breast adenoma (16), lichen amyloidosis (14), macular amyloidosis (13), blepharochalasis (11), spongiotic dermatitis (8), cervical squamous cell carcinoma (8), diffuse cutaneous mastocytosis (8), physical urticaria (6), medullary thyroid carcinoma, familial (6), multiple endocrine neoplasia iib (6), keratosis, seborrheic, somatic (4), thyroid cancer, nonmedullary, 2 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.93 RPKM in Cells - Cultured fibroblasts
Total median expression: 514.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -170.60389-0.439 Picture PostScript Text
3' UTR -624.202197-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR003529 - Hematopoietin_rcpt_Gp130_CS
IPR013783 - Ig-like_fold

Pfam Domains:
PF00041 - Fibronectin type III domain

ModBase Predicted Comparative 3D Structure on Q99650
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004896 cytokine receptor activity
GO:0019838 growth factor binding
GO:0004924 oncostatin-M receptor activity

Biological Process:
GO:0002675 positive regulation of acute inflammatory response
GO:0008284 positive regulation of cell proliferation
GO:0019221 cytokine-mediated signaling pathway
GO:0034097 response to cytokine
GO:0038165 oncostatin-M-mediated signaling pathway

Cellular Component:
GO:0005886 plasma membrane
GO:0005900 oncostatin-M receptor complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF210222 - JP 2014500723-A/17725: Polycomb-Associated Non-Coding RNAs.
MA445799 - JP 2018138019-A/17725: Polycomb-Associated Non-Coding RNAs.
U60805 - Human oncostatin-M specific receptor beta subunit (OSMRB) mRNA, complete cds.
AK304016 - Homo sapiens cDNA FLJ61046 complete cds, highly similar to Homo sapiens oncostatin M receptor (OSMR), mRNA.
BC125209 - Homo sapiens oncostatin M receptor, mRNA (cDNA clone MGC:150626 IMAGE:40123501), complete cds.
BC125210 - Homo sapiens oncostatin M receptor, mRNA (cDNA clone MGC:150627 IMAGE:40123502), complete cds.
AB527425 - Synthetic construct DNA, clone: pF1KB5623, Homo sapiens OSMR gene for oncostatin M receptor, without stop codon, in Flexi system.
LF212597 - JP 2014500723-A/20100: Polycomb-Associated Non-Coding RNAs.
MA448174 - JP 2018138019-A/20100: Polycomb-Associated Non-Coding RNAs.
BC010943 - Homo sapiens oncostatin M receptor, mRNA (cDNA clone IMAGE:4043935), complete cds.
BC063468 - Homo sapiens oncostatin M receptor, mRNA (cDNA clone IMAGE:5190501), complete cds.
JD192168 - Sequence 173192 from Patent EP1572962.
JD129791 - Sequence 110815 from Patent EP1572962.
LF213357 - JP 2014500723-A/20860: Polycomb-Associated Non-Coding RNAs.
MA448934 - JP 2018138019-A/20860: Polycomb-Associated Non-Coding RNAs.
JD443190 - Sequence 424214 from Patent EP1572962.
JD535295 - Sequence 516319 from Patent EP1572962.
JD150543 - Sequence 131567 from Patent EP1572962.
CU687732 - Synthetic construct Homo sapiens gateway clone IMAGE:100021586 5' read OSMR mRNA.
KJ905990 - Synthetic construct Homo sapiens clone ccsbBroadEn_15660 OSMR gene, encodes complete protein.
LF335838 - JP 2014500723-A/143341: Polycomb-Associated Non-Coding RNAs.
MA571415 - JP 2018138019-A/143341: Polycomb-Associated Non-Coding RNAs.
LF335837 - JP 2014500723-A/143340: Polycomb-Associated Non-Coding RNAs.
MA571414 - JP 2018138019-A/143340: Polycomb-Associated Non-Coding RNAs.
LF335836 - JP 2014500723-A/143339: Polycomb-Associated Non-Coding RNAs.
MA571413 - JP 2018138019-A/143339: Polycomb-Associated Non-Coding RNAs.
LF335835 - JP 2014500723-A/143338: Polycomb-Associated Non-Coding RNAs.
MA571412 - JP 2018138019-A/143338: Polycomb-Associated Non-Coding RNAs.
LF335834 - JP 2014500723-A/143337: Polycomb-Associated Non-Coding RNAs.
MA571411 - JP 2018138019-A/143337: Polycomb-Associated Non-Coding RNAs.
LF335833 - JP 2014500723-A/143336: Polycomb-Associated Non-Coding RNAs.
MA571410 - JP 2018138019-A/143336: Polycomb-Associated Non-Coding RNAs.
LF335830 - JP 2014500723-A/143333: Polycomb-Associated Non-Coding RNAs.
MA571407 - JP 2018138019-A/143333: Polycomb-Associated Non-Coding RNAs.
LF335829 - JP 2014500723-A/143332: Polycomb-Associated Non-Coding RNAs.
MA571406 - JP 2018138019-A/143332: Polycomb-Associated Non-Coding RNAs.
LF335828 - JP 2014500723-A/143331: Polycomb-Associated Non-Coding RNAs.
MA571405 - JP 2018138019-A/143331: Polycomb-Associated Non-Coding RNAs.
LF335827 - JP 2014500723-A/143330: Polycomb-Associated Non-Coding RNAs.
MA571404 - JP 2018138019-A/143330: Polycomb-Associated Non-Coding RNAs.
LF335826 - JP 2014500723-A/143329: Polycomb-Associated Non-Coding RNAs.
MA571403 - JP 2018138019-A/143329: Polycomb-Associated Non-Coding RNAs.
LF335825 - JP 2014500723-A/143328: Polycomb-Associated Non-Coding RNAs.
MA571402 - JP 2018138019-A/143328: Polycomb-Associated Non-Coding RNAs.
JD411133 - Sequence 392157 from Patent EP1572962.
JD375963 - Sequence 356987 from Patent EP1572962.
JD497453 - Sequence 478477 from Patent EP1572962.
LF335824 - JP 2014500723-A/143327: Polycomb-Associated Non-Coding RNAs.
MA571401 - JP 2018138019-A/143327: Polycomb-Associated Non-Coding RNAs.
JD354822 - Sequence 335846 from Patent EP1572962.
JD467738 - Sequence 448762 from Patent EP1572962.
JD240244 - Sequence 221268 from Patent EP1572962.
JD526382 - Sequence 507406 from Patent EP1572962.
JD323652 - Sequence 304676 from Patent EP1572962.
JD325524 - Sequence 306548 from Patent EP1572962.
JD069030 - Sequence 50054 from Patent EP1572962.
LF335823 - JP 2014500723-A/143326: Polycomb-Associated Non-Coding RNAs.
MA571400 - JP 2018138019-A/143326: Polycomb-Associated Non-Coding RNAs.
JD251360 - Sequence 232384 from Patent EP1572962.
JD157033 - Sequence 138057 from Patent EP1572962.
JD384943 - Sequence 365967 from Patent EP1572962.
LF335822 - JP 2014500723-A/143325: Polycomb-Associated Non-Coding RNAs.
MA571399 - JP 2018138019-A/143325: Polycomb-Associated Non-Coding RNAs.
JD360635 - Sequence 341659 from Patent EP1572962.
JD308113 - Sequence 289137 from Patent EP1572962.
JD254588 - Sequence 235612 from Patent EP1572962.
LF335821 - JP 2014500723-A/143324: Polycomb-Associated Non-Coding RNAs.
MA571398 - JP 2018138019-A/143324: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04060 - Cytokine-cytokine receptor interaction
hsa04630 - Jak-STAT signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein Q99650 (Reactome details) participates in the following event(s):

R-HSA-6784204 JAKs bind OSMR
R-HSA-6783552 OSM binds LIFR:JAKs,OSMR:JAKs
R-HSA-6783524 OSM,LIF,CTF1 receptor complex binds gp130
R-HSA-6788467 IL-6-type cytokine receptor ligand interactions
R-HSA-6783589 Interleukin-6 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000274276.1, ENST00000274276.2, ENST00000274276.3, ENST00000274276.4, ENST00000274276.5, ENST00000274276.6, ENST00000274276.7, NM_003999, OSMRB, OSMR_HUMAN, Q6P4E8, Q96QJ6, Q99650, uc003jln.1, uc003jln.2, uc003jln.3
UCSC ID: ENST00000274276.8
RefSeq Accession: NM_003999
Protein: Q99650 (aka OSMR_HUMAN)
CCDS: CCDS3928.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.