ENSG00000145623


Homo sapiens

Features
Gene ID: ENSG00000145623
  
Biological name :OSMR
  
Synonyms : oncostatin M receptor / OSMR / Q99650
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: p13.1
Gene start: 38845858
Gene end: 38945596
  
Corresponding Affymetrix probe sets: 1554008_at (Human Genome U133 Plus 2.0 Array)   205729_at (Human Genome U133 Plus 2.0 Array)   226621_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422023
Ensembl peptide - ENSP00000423913
Ensembl peptide - ENSP00000426729
Ensembl peptide - ENSP00000274276
Ensembl peptide - ENSP00000422372
NCBI entrez gene - 9180     See in Manteia.
OMIM - 601743
RefSeq - XM_017010020
RefSeq - NM_001168355
RefSeq - NM_001323504
RefSeq - NM_001323505
RefSeq - NM_001323506
RefSeq - NM_003999
RefSeq - XM_005248384
RefSeq - XM_011514161
RefSeq - XM_017010019
RefSeq Peptide - NP_001161827
RefSeq Peptide - NP_001310434
RefSeq Peptide - NP_001310435
RefSeq Peptide - NP_003990
RefSeq Peptide - NP_001310433
swissprot - H0Y9E3
swissprot - H0YAD1
swissprot - H0Y8W9
swissprot - Q99650
Ensembl - ENSG00000145623
  
Related genetic diseases (OMIM): 105250 - Amyloidosis, primary localized cutaneous, 1, 105250
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 OSMRENSGALG00000003747Gallus gallus
 OsmrENSMUSG00000022146Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LIFR / P42702 / LIF receptor alphaENSG0000011359429
Q99665 / IL12RB2 / interleukin 12 receptor subunit beta 2ENSG0000008198516
IL6ST / P40189 / interleukin 6 signal transducerENSG0000013435215
CSF3R / Q99062 / colony stimulating factor 3 receptorENSG0000011953515
IL31RA / Q8NI17 / interleukin 31 receptor AENSG0000016450913


Protein motifs (from Interpro)
Interpro ID Name
 IPR003529  Long hematopoietin receptor, Gp130 family 2, conserved site
 IPR003961  Fibronectin type III
 IPR013783  Immunoglobulin-like fold
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002675 positive regulation of acute inflammatory response IC
 biological_processGO:0008284 positive regulation of cell proliferation IGI
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0034097 response to cytokine IDA
 biological_processGO:0038165 oncostatin-M-mediated signaling pathway IMP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005900 oncostatin-M receptor complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IDA
 molecular_functionGO:0004896 cytokine receptor activity IEA
 molecular_functionGO:0004924 oncostatin-M receptor activity IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019838 growth factor binding IPI


Pathways (from Reactome)
Pathway description
IL-6-type cytokine receptor ligand interactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000973 Cutis laxa 
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001149 Lattice corneal dystrophy "The presence of fine, branching linear opacities in Bowman s layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet s membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators]
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 HP:0001291 Abnormality of the cranial nerves "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.]
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 HP:0003581 Onset in adulthood 
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 HP:0011034 Amyloidosis "The presence of `amyloid deposition` (MPATH:34) in one or more tissues. Amyloidosis may be defined as the exrtracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000099985 OSM / P13725 / oncostatin M  / complex / reaction
 ENSG00000162434 JAK1 / P23458 / Janus kinase 1  / complex / reaction
 ENSG00000164509 IL31RA / Q8NI17 / interleukin 31 receptor A  / complex
 ENSG00000134352 IL6ST / P40189 / interleukin 6 signal transducer  / complex / reaction
 ENSG00000204671 IL31 / Q6EBC2 / interleukin 31  / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction






 

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