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Aliases for OSMR Gene

Aliases for OSMR Gene

  • Oncostatin M Receptor 2 3 5
  • Interleukin-31 Receptor Subunit Beta 3 4
  • IL-31 Receptor Subunit Beta 3 4
  • IL-31R Subunit Beta 3 4
  • IL-31R-Beta 3 4
  • IL-31RB 3 4
  • OSMRB 3 4
  • Oncostatin-M Specific Receptor Beta Subunit 3
  • Oncostatin-M-Specific Receptor Subunit Beta 3
  • PLCA1 3

External Ids for OSMR Gene

Previous GeneCards Identifiers for OSMR Gene

  • GC05P039029
  • GC05P039912
  • GC05P038846
  • GC05P038891
  • GC05P038881
  • GC05P038797

Summaries for OSMR Gene

Entrez Gene Summary for OSMR Gene

  • 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]

GeneCards Summary for OSMR Gene

OSMR (Oncostatin M Receptor) is a Protein Coding gene. Diseases associated with OSMR include Amyloidosis, Primary Localized Cutaneous, 1 and Primary Cutaneous Amyloidosis. Among its related pathways are Innate Immune System and Immune response_Oncostatin M signaling via JAK-Stat in human cells. GO annotations related to this gene include growth factor binding and oncostatin-M receptor activity. An important paralog of this gene is LIFR.

UniProtKB/Swiss-Prot for OSMR Gene

  • 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.

Gene Wiki entry for OSMR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSMR Gene

Genomics for OSMR Gene

Regulatory Elements for OSMR Gene

Enhancers for OSMR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G038870 1.4 FANTOM5 Ensembl ENCODE 11.7 +26.5 26504 4.6 TBP PKNOX1 ATF1 ARNT INSM2 SIN3A RAD21 BRCA1 RFX5 GATA2 OSMR OSMR-AS1 LINC01265 GC05M038934
GH05G039072 1.8 FANTOM5 ENCODE dbSUPER 7.7 +229.2 229150 5.9 DMAP1 YY1 ZNF143 ZNF263 SP3 TBX21 MEF2D RCOR2 NBN KDM1A RICTOR FYB OSMR GC05M039105
GH05G038843 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.7 +0.1 147 4.8 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS DEK SP3 OSMR GC05M038934
GH05G039207 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5 +365.9 365906 8.8 CTCF CAVIN1 CEBPB CEBPG REST ZIC2 CEBPA ZBTB33 FYB RICTOR OSMR GC05P039191
GH05G039013 1.1 Ensembl ENCODE 5.5 +169.4 169372 3.4 YBX3 HDGF ARNT NFXL1 RAD21 YY1 ZNF366 FOS BCLAF1 SMARCA5 LOC105374732 RICTOR OSMR AIG1P1 GC05M038934
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OSMR on UCSC Golden Path with GeneCards custom track

Promoters for OSMR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000179804 43 3000 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS DEK SP3

Genomic Location for OSMR Gene

Chromosome:
5
Start:
38,845,858 bp from pter
End:
38,945,596 bp from pter
Size:
99,739 bases
Orientation:
Plus strand

Genomic View for OSMR Gene

Genes around OSMR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSMR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSMR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSMR Gene

Proteins for OSMR Gene

  • Protein details for OSMR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99650-OSMR_HUMAN
    Recommended name:
    Oncostatin-M-specific receptor subunit beta
    Protein Accession:
    Q99650
    Secondary Accessions:
    • Q6P4E8
    • Q96QJ6

    Protein attributes for OSMR Gene

    Size:
    979 amino acids
    Molecular mass:
    110509 Da
    Quaternary structure:
    • Heterodimer composed of OSMR and IL6ST (type II OSM receptor). Heterodimer with IL31RA to form the IL31 receptor.
    SequenceCaution:
    • Sequence=AAH63468.1; Type=Erroneous termination; Positions=216; Note=Translated as Glu.; Evidence={ECO:0000305}; Sequence=AAH63468.1; Type=Frameshift; Positions=232, 288; Evidence={ECO:0000305};

    Alternative splice isoforms for OSMR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSMR Gene

Post-translational modifications for OSMR Gene

  • Ubiquitination at Lys787
  • Glycosylation at Asn84, posLast=163163, posLast=176176, Asn326, posLast=380380, Asn446, posLast=491491, and posLast=580580
  • Modification sites at PhosphoSitePlus

Antibody Products

Protein Products

Assay Products

  • Cloud-Clone Corp Assay Kits for OSMR

No data available for DME Specific Peptides for OSMR Gene

Domains & Families for OSMR Gene

Suggested Antigen Peptide Sequences for OSMR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99650

UniProtKB/Swiss-Prot:

OSMR_HUMAN :
  • The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
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.
Family:
  • Belongs to the type I cytokine receptor family. Type 2 subfamily.
genes like me logo Genes that share domains with OSMR: view

Function for OSMR Gene

Molecular function for OSMR Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Activated by oncostatin-M (PubMed:8999038). Up-regulated by IFNG/IFN-gamma (PubMed:15184896, PubMed:21261663). Up-regulated by bacterial lipopolysaccharides (LPS) (PubMed:15184896). Up-regulated by triacylated lipoprotein (Pam3Cys) (PubMed:21261663).

Gene Ontology (GO) - Molecular Function for OSMR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004896 cytokine receptor activity IEA --
GO:0004924 contributes_to oncostatin-M receptor activity IDA 8999038
GO:0019838 growth factor binding IPI 8999038
genes like me logo Genes that share ontologies with OSMR: view
genes like me logo Genes that share phenotypes with OSMR: view

Human Phenotype Ontology for OSMR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OSMR Gene

MGI Knock Outs for OSMR:

Animal Model Products

CRISPR Products

miRNA for OSMR Gene

miRTarBase miRNAs that target OSMR

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for OSMR Gene

Localization for OSMR Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSMR Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OSMR gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for OSMR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005900 oncostatin-M receptor complex IDA 8999038
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IDA 21912637
genes like me logo Genes that share ontologies with OSMR: view

Pathways & Interactions for OSMR Gene

genes like me logo Genes that share pathways with OSMR: view

SIGNOR curated interactions for OSMR Gene

Is activated by:

Gene Ontology (GO) - Biological Process for OSMR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002675 positive regulation of acute inflammatory response IC 8999038
GO:0008284 positive regulation of cell proliferation IGI 8999038
GO:0034097 response to cytokine IDA 8999038
GO:0038165 oncostatin-M-mediated signaling pathway IMP 8999038
genes like me logo Genes that share ontologies with OSMR: view

Drugs & Compounds for OSMR Gene

(1) Drugs for OSMR Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for OSMR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with OSMR: view

Transcripts for OSMR Gene

Unigene Clusters for OSMR Gene

Oncostatin M receptor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSMR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2: -
SP3: - -
SP4:

Relevant External Links for OSMR Gene

GeneLoc Exon Structure for
OSMR
ECgene alternative splicing isoforms for
OSMR

Expression for OSMR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSMR Gene

Protein differential expression in normal tissues from HIPED for OSMR Gene

This gene is overexpressed in Plasma (30.2), Serum (22.9), and Adrenal (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OSMR Gene



NURSA nuclear receptor signaling pathways regulating expression of OSMR Gene:

OSMR

SOURCE GeneReport for Unigene cluster for OSMR Gene:

Hs.120658

mRNA Expression by UniProt/SwissProt for OSMR Gene:

Q99650-OSMR_HUMAN
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).

Evidence on tissue expression from TISSUES for OSMR Gene

  • Intestine(4.3)
  • Skin(2.6)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OSMR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • urinary
Organs:
Head and neck:
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with OSMR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for OSMR Gene

Orthologs for OSMR Gene

This gene was present in the common ancestor of chordates.

Orthologs for OSMR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSMR 34 35
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia OSMR 34 35
  • 81.16 (n)
cow
(Bos Taurus)
Mammalia OSMR 34 35
  • 80.89 (n)
rat
(Rattus norvegicus)
Mammalia Osmr 34
  • 71.34 (n)
mouse
(Mus musculus)
Mammalia Osmr 34 16 35
  • 70.79 (n)
oppossum
(Monodelphis domestica)
Mammalia OSMR 35
  • 49 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OSMR 35
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves OSMR 34 35
  • 50.84 (n)
lizard
(Anolis carolinensis)
Reptilia OSMR 35
  • 33 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osmr 34
  • 49.26 (n)
zebrafish
(Danio rerio)
Actinopterygii osmr 35
  • 25 (a)
OneToOne
Species where no ortholog for OSMR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for OSMR Gene

ENSEMBL:
Gene Tree for OSMR (if available)
TreeFam:
Gene Tree for OSMR (if available)

Paralogs for OSMR Gene

Paralogs for OSMR Gene

(1) SIMAP similar genes for OSMR Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with OSMR: view

Variants for OSMR Gene

Sequence variations from dbSNP and Humsavar for OSMR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs387906821 Pathogenic, Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] 38,924,491(+) GAAAG(A/T)TTACT nc-transcript-variant, reference, missense
rs387906822 Pathogenic, Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] 38,925,240(+) CAACC(C/T)GGAAG nc-transcript-variant, reference, missense
rs387906823 Pathogenic, Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] 38,925,249(+) AGAAA(A/C/G)GGCAT nc-transcript-variant, reference, missense
rs63750560 Pathogenic, Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] 38,923,237(+) AACAG(C/G)ATACT nc-transcript-variant, reference, missense
rs63750567 Pathogenic, Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250] 38,925,231(+) CAAAA(C/T)TGACA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for OSMR Gene

Variant ID Type Subtype PubMed ID
dgv940e201 CNV deletion 23290073
esv1003705 CNV deletion 20482838
esv1255876 CNV deletion 17803354
esv1469708 CNV deletion 17803354
esv1589521 CNV deletion 17803354
esv2297322 CNV deletion 18987734
esv2730107 CNV deletion 23290073
esv2730109 CNV deletion 23290073
esv3111 CNV loss 18987735
nsv1128160 CNV deletion 24896259
nsv327488 CNV deletion 16902084
nsv4801 CNV insertion 18451855
nsv950670 CNV duplication 24416366

Variation tolerance for OSMR Gene

Residual Variation Intolerance Score: 83.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.21; 84.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OSMR Gene

Human Gene Mutation Database (HGMD)
OSMR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSMR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSMR Gene

Disorders for OSMR Gene

MalaCards: The human disease database

(18) MalaCards diseases for OSMR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
amyloidosis, primary localized cutaneous, 1
  • amyloidosis, primary localized cutaneous 1
primary cutaneous amyloidosis
  • familial primary localized cutaneous amyloidosis
breast ductal adenoma
fox-fordyce disease
  • fox fordyce disease
dermatographia
  • dermatographic urticaria
- elite association - COSMIC cancer census association via MalaCards
Search OSMR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OSMR_HUMAN
  • Amyloidosis, primary localized cutaneous, 1 (PLCA1) [MIM:105250]: 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. {ECO:0000269 PubMed:18179886, ECO:0000269 PubMed:19690585}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for OSMR

Genetic Association Database (GAD)
OSMR
Human Genome Epidemiology (HuGE) Navigator
OSMR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OSMR
genes like me logo Genes that share disorders with OSMR: view

No data available for Genatlas for OSMR Gene

Publications for OSMR Gene

  1. Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. (PMID: 19690585) Lin M.W. … Tsai S.F. (Eur. J. Hum. Genet. 2010) 3 4 22 64
  2. Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. (PMID: 18179886) Arita K. … McGrath J.A. (Am. J. Hum. Genet. 2008) 3 4 22 64
  3. Dual oncostatin M (OSM) receptors. Cloning and characterization of an alternative signaling subunit conferring OSM-specific receptor activation. (PMID: 8999038) Mosley B. … Cosman D. (J. Biol. Chem. 1996) 2 3 4 64
  4. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 46 64
  5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 46 64

Products for OSMR Gene

Sources for OSMR Gene

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