OSM

oncostatin M, the group of Interleukin 6 type cytokine family

Basic information

Region (hg38): 22:30262829-30266851

Links

ENSG00000099985NCBI:5008OMIM:165095HGNC:8506Uniprot:P13725AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OSM gene.

  • not_specified (53 variants)
  • Autosomal_dominant_intellectual_disability-craniofacial_anomalies-cardiac_defects_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSM gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020530.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
46
clinvar
7
clinvar
53
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 1 46 7 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OSMprotein_codingprotein_codingENST00000215781 34012
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5890.37400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2941521630.9350.00001041625
Missense in Polyphen3341.5450.79431463
Synonymous0.7816068.20.8800.00000404533
Loss of Function1.5402.770.001.17e-732

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Growth regulator. Inhibits the proliferation of a number of tumor cell lines. Stimulates proliferation of AIDS-KS cells. It regulates cytokine production, including IL-6, G-CSF and GM-CSF from endothelial cells. Uses both type I OSM receptor (heterodimers composed of LIPR and IL6ST) and type II OSM receptor (heterodimers composed of OSMR and IL6ST). Involved in the maturation of fetal hepatocytes, thereby promoting liver development and regeneration (By similarity). {ECO:0000250, ECO:0000269|PubMed:1542792, ECO:0000269|PubMed:1542793}.;
Pathway
PI3K-Akt signaling pathway - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Adipogenesis;Oncostatin M Signaling Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Interleukin-4 and 13 signaling;PI3K-Akt Signaling Pathway;Signaling by Interleukins;IL-6-type cytokine receptor ligand interactions;Cytokine Signaling in Immune system;Oncostatin_M;Immune System;GMCSF-mediated signaling events;Interleukin-6 family signaling;IL3-mediated signaling events (Consensus)

Recessive Scores

pRec
0.717

Intolerance Scores

loftool
0.557
rvis_EVS
-0.25
rvis_percentile_EVS
35.75

Haploinsufficiency Scores

pHI
0.178
hipred
N
hipred_score
0.315
ghis
0.468

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.944

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Osm
Phenotype
homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
positive regulation of acute inflammatory response;immune response;multicellular organism development;cell population proliferation;positive regulation of cell population proliferation;negative regulation of cell population proliferation;regulation of signaling receptor activity;positive regulation of phosphatidylinositol 3-kinase signaling;cytokine-mediated signaling pathway;positive regulation of peptidyl-serine phosphorylation;oncostatin-M-mediated signaling pathway;regulation of growth;positive regulation of tyrosine phosphorylation of STAT protein;positive regulation of MAPK cascade;positive regulation of transcription by RNA polymerase II;negative regulation of hormone secretion;positive regulation of inflammatory response;positive regulation of peptidyl-tyrosine phosphorylation;positive regulation of cell division;positive regulation of protein kinase B signaling;positive regulation of interleukin-17 secretion
Cellular component
extracellular region;extracellular space
Molecular function
cytokine activity;oncostatin-M receptor binding;growth factor activity