OSM

Summary

OSM (oncostatin M, HGNC:8506) is a protein-coding gene on chromosome 22q12.2, encoding Oncostatin-M (P13725). Growth regulator.

This gene encodes a member of the leukemia inhibitory factor/oncostatin-M (LIF/OSM) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a secreted cytokine and growth regulator that inhibits the proliferation of a number of tumor cell lines. This protein also regulates the production of other cytokines, including interleukin 6, granulocyte-colony stimulating factor and granulocyte-macrophage colony stimulating factor in endothelial cells. This gene and the related gene, leukemia inhibitory factor, also present on chromosome 22, may have resulted from the duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Source: NCBI Gene 5008 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total — 1 likely-pathogenic
• MANE Select transcript: NM_020530

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8506
Approved symbol	OSM
Name	oncostatin M
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC20461
Ensembl gene	ENSG00000099985
Ensembl biotype	protein_coding
OMIM	165095
Entrez	5008

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000215781, ENST00000403389, ENST00000403463

RefSeq mRNA: 2 — MANE Select: NM_020530 NM_001319108, NM_020530

CCDS: CCDS13873, CCDS82706

Canonical transcript exons

ENST00000215781 — 3 exons

Exon	Start	End
ENSE00001048397	30262829	30264464
ENSE00001048398	30266766	30266851
ENSE00003514106	30265002	30265144

Expression profiles

Bgee: expression breadth ubiquitous, 151 present calls, max score 88.87.

FANTOM5 (CAGE): breadth broad, TPM avg 10.8444 / max 3239.4664, expressed in 418 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193600	8.7095	368
193601	0.9596	189
193599	0.5695	106
193598	0.3225	73
193597	0.2833	57

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	88.87	silver quality
bone marrow cell	CL:0002092	87.58	gold quality
upper arm skin	UBERON:0004263	85.89	gold quality
monocyte	CL:0000576	85.26	gold quality
leukocyte	CL:0000738	84.70	gold quality
kidney epithelium	UBERON:0004819	81.83	gold quality
bone marrow	UBERON:0002371	81.52	gold quality
blood	UBERON:0000178	81.18	gold quality
nasal cavity epithelium	UBERON:0005384	79.91	silver quality
vermiform appendix	UBERON:0001154	78.72	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	78.34	gold quality
granulocyte	CL:0000094	76.86	gold quality
gall bladder	UBERON:0002110	75.65	gold quality
epithelial cell of pancreas	CL:0000083	75.54	gold quality
caecum	UBERON:0001153	75.32	gold quality
left ventricle myocardium	UBERON:0006566	73.50	gold quality
myocardium	UBERON:0002349	73.45	gold quality
cardiac muscle of right atrium	UBERON:0003379	73.32	gold quality
upper lobe of left lung	UBERON:0008952	72.51	gold quality
upper lobe of lung	UBERON:0008948	70.78	gold quality
heart right ventricle	UBERON:0002080	70.56	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	69.88	gold quality
parotid gland	UBERON:0001831	69.73	gold quality
spleen	UBERON:0002106	69.13	gold quality
omental fat pad	UBERON:0010414	69.05	gold quality
peritoneum	UBERON:0002358	69.03	gold quality
adipose tissue of abdominal region	UBERON:0007808	68.23	gold quality
cerebellar vermis	UBERON:0004720	67.93	gold quality
layer of synovial tissue	UBERON:0007616	67.76	silver quality
left uterine tube	UBERON:0001303	67.08	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting OSM, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-3913-5P	99.78	67.26	968
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-3122	99.50	66.33	821

Literature-anchored findings (GeneRIF, showing 40)

• We conclude that STAT1 activation is necessary but not sufficient for induction of transcription of IFN gamma-responsive genes; signals provided by IFN gamma other than STAT1 activation cannot be provided in trans to complement the response to OnM. (PMID:11777927)
• Oncostatin M and leukemia inhibitory factor regulate the growth of normal human breast epithelial cells (PMID:11811789)
• Il-6 and oncostatin M act synergistically to promote growth in a new human myeloma cell line. (PMID:11818668)
• role in identifying sterol-indendent regulatory elements in human ATP-binding cassette transporter A1 promoter (PMID:11839742)
• role in inducing alpha1-antitrypsin gene expression (PMID:11936950)
• expression and evidence for STAT3 activation in human ovarian carcinomas (PMID:12061840)
• produced in human dendritic cells in response to bacterial products (PMID:12061841)
• Oncostatin M induces tissue-type plasminogen activator and plasminogen activator inhibitor-1 in lung tumor cells (PMID:12090757)
• Oncostatin M induces procoagulant activity in human vascular smooth muscle cells by modulating the balance between tissue factor and tissue factor pathway inhibitor. OSM might be involved in the thrombotic complications associated with plaque rupture. (PMID:12138373)
• Oncostatin M stimulates (45)Ca release and enhances mRNA expression of receptor activator of NF-kappa B ligand (RANKL) and osteoprotegerin in neonatal mouse calvarial bone cultures, but has no effect on the expression of RANK. (PMID:12218157)
• Raised intraperitoneal levels of OSM during bacterial infections originate from infiltrating neutrophils and regulate mesothelial expression of inflammatory cytokines. (PMID:12391243)
• Kaposi sarcoma-associated viral cyclin K overrides cell growth inhibition mediated by this protein through STAT3 inhibition. (PMID:12531804)
• Increased production of this protein is found in lymphomononuclear cells from HIV-1-infected patients with neuroAIDS. (PMID:12640208)
• oncostatin M, which transmits its signal via the gp130 cell surface receptor, and results in the selective down-modulation of the melanocyte lineage antigens (PMID:12692260)
• Leukemia inhibitory factor (LIF), cardiotrophin-1, and oncostatin M share structural binding determinants in the immunoglobulin-like domain of LIF receptor (PMID:12707269)
• this important cytokine is released from neutrophils as they infiltrate rheumatoid joints and, thus, contribute to the complex cytokine network that characterizes rheumatoid arthritis (PMID:15146412)
• IL-6 stimulates proliferation of prostate cancer 22Rv1 cells, in part through activation of the phosphatidylinositol 3-kinase (PI 3-K) signaling pathway. (PMID:15712220)
• Effects of OSM in 5 glioma cell lines and 7 short-term cultures of human gliomas and in normal cultured human astrocytes. (PMID:15809742)
• The expression of OSM and its receptor in ovarian tissue from fetuses and women suggests a possible role of OSM in growth initiation of human primordial follicles. (PMID:15831292)
• IL-6 and OSM upregulate PAI-1 protein and mRNA in adipose tissue (PMID:15837947)
• OSM may play a role in modulating the inflammatory cascade of chronic periodontitis. (PMID:15863389)
• Oncostatin M is expressed in the human nasal mucosa and is upregulated in the setting of allergic nasal inflammation. (PMID:16369169)
• OSM induces a motile/invasive phenotype in T-47D human breast cancer cells in vitro; OSM may enhance metastasis in vivo. (PMID:16713283)
• Pre-B cell colony-enhancing factor (PBEF) is regulated via IL-6 trans-signaling and the IL-6-related cytokine OSM. PBEF is also actively expressed during arthritis. (PMID:16802343)
• data suggest that OSM promotes angiogenesis and endothelial cell migration and potentiates the effects of IL-1beta in promoting extracellular matrix turnover and human cartilage degradation (PMID:17009243)
• sOSMR is able to bind OSM and interleukin-31 when associated to soluble gp130 or soluble interleukin-31R, respectively, and to neutralize both cytokine properties (PMID:17028186)
• These results suggest that OSM inhibits adiponectin expression by inducing dedifferentiation of adipocytes through signaling pathways involving JAK3 and MEK, but not JAK2. (PMID:17081797)
• OSM and its receptor play an important role in cutaneous inflammatory responses in general and the specific effects of OSM are associated with distinct inflammatory diseases depending on the cytokine environment. (PMID:17372020)
• in addition to growth arrest and induced differentiation, OSM also sensitizes normal and transformed osteoblasts to apoptosis by a mechanism implicating (i) activation and nuclear translocation of STAT5 and p53 and (ii) an increased Bax/Bcl-2 ratio. (PMID:17471233)
• If the effect of oncostatin M on PAI-1 in smooth muscle cells is operative in vivo, it could, via fibrinolysis and proteolysis, be involved in plaque progression, destabilization, thrombus formation, restenosis, and neointima formation. (PMID:17604327)
• Oncostatin M directly lowers the plasma triglycerides in hyperlipidemia by stimulating the transcription of ACSL3/5 in the liver. (PMID:17761945)
• In human proximal tubular cells ERK1/2 signaling represents an important component of oncostatin M inhibitory effect on N-cadherin expression. (PMID:17881458)
• Increased expression of some IL-6 cytokine family members (oncostatin M, gp130, CT-1, LIF) in cutaneous inflammation might contribute to the promotion of hair loss. (PMID:17979974)
• Production of OSM by human mast cells might represent one link between T cell-induced mast cell activation and development of spectrum of structural changes in T cell-mediated inflammatory processes in which mast cells have been found to be involved. (PMID:18028996)
• Our data establish a link between the complement system and the gp130 receptor cytokine family with possible implications for the pathology of inflammatory diseases. (PMID:18187666)
• secretion of OSM and LIF by both epithelial and stromal (paracrine manner) cells seems to promote tumor growth in human breast carcinoma (PMID:18317962)
• Mtb infection of monocytes results in prostaglandin-dependent OSM secretion, which synergizes with TNF-alpha to drive functionally unopposed fibroblast MMP-1/-3 secretion. (PMID:18398932)
• loss of repopulating activity during KIT-ligand stimulation is counteracted by Oncostatin M through the downregulation of ERK pathway signaling (PMID:18499891)
• Oncostatin M is expressed in both chronic obstructive sialadenitis and normal submandibular gland, and is up-regulated in chronic obstructive sialadenitis. (PMID:18564531)
• expressed in epithelialized apical periodontitis lesions (PMID:18637848)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Osm	ENSMUSG00000058755
rattus_norvegicus	Osm	ENSRNOG00000024390

Protein

Protein identifiers

Oncostatin-M — P13725 (reviewed: P13725)

All UniProt accessions (3): B5MC70, B5MCX1, P13725

UniProt curated annotations — full annotation on UniProt →

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 LIFR 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.

Subcellular location. Secreted.

Post-translational modifications. Propeptide processing is not important for receptor binding activity but may be important growth-inhibitory activity.

Similarity. Belongs to the LIF/OSM family.

RefSeq proteins (2): NP_001306037, NP_065391* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001581	Leukemia_IF/oncostatin	Family
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily
IPR019827	Leukemia_IF/oncostatin_CS	Conserved_site
IPR039578	OSM	Family

Pfam: PF01291

UniProt features (28 total): helix 10, mutagenesis site 6, region of interest 2, glycosylation site 2, disulfide bond 2, signal peptide 1, chain 1, sequence variant 1, propeptide 1, turn 1, compositionally biased region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
1EVS	X-RAY DIFFRACTION	2.2
8V2A	ELECTRON MICROSCOPY	3.59
8V29	ELECTRON MICROSCOPY	3.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13725-F1	79.50	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (2): 31–152, 74–192

Glycosylation sites (2): 100, 217

Mutagenesis-validated functional residues (6):

Position	Phenotype
74	inactive.
192	inactive.
201	inactive.
209	inactive.
220	inhibits propeptide cleavage.
221	inhibits propeptide cleavage.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6785807	Interleukin-4 and Interleukin-13 signaling
R-HSA-6788467	IL-6-type cytokine receptor ligand interactions

MSigDB gene sets: 314 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, MODULE_92, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, MODULE_64, GOBP_PEPTIDYL_SERINE_MODIFICATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOMF_GROWTH_FACTOR_ACTIVITY, TGACCTY_ERR1_Q2

GO Biological Process (18): positive regulation of acute inflammatory response (GO:0002675), immune response (GO:0006955), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), positive regulation of interleukin-17 production (GO:0032740), positive regulation of peptidyl-serine phosphorylation (GO:0033138), oncostatin-M-mediated signaling pathway (GO:0038165), positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531), positive regulation of MAPK cascade (GO:0043410), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of hormone secretion (GO:0046888), positive regulation of inflammatory response (GO:0050729), positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731), positive regulation of cell division (GO:0051781), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), regulation of hematopoietic stem cell differentiation (GO:1902036), regulation of cell communication (GO:0010646), regulation of signaling (GO:0023051)

GO Molecular Function (5): cytokine activity (GO:0005125), oncostatin-M receptor binding (GO:0005147), growth factor activity (GO:0008083), signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Signaling by Interleukins	1
Interleukin-6 family signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	2
regulation of cell population proliferation	2
positive regulation of cellular process	2
positive regulation of protein phosphorylation	2
positive regulation of intracellular signal transduction	2
receptor ligand activity	2
acute inflammatory response	1
regulation of acute inflammatory response	1
positive regulation of inflammatory response	1
immune system process	1
response to stimulus	1
negative regulation of cellular process	1
positive regulation of cytokine production	1
interleukin-17 production	1
regulation of interleukin-17 production	1
peptidyl-serine phosphorylation	1
regulation of peptidyl-serine phosphorylation	1
cytokine-mediated signaling pathway	1
tyrosine phosphorylation of STAT protein	1
regulation of tyrosine phosphorylation of STAT protein	1
positive regulation of peptidyl-tyrosine phosphorylation	1
MAPK cascade	1
regulation of MAPK cascade	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
negative regulation of cell communication	1
negative regulation of signaling	1
hormone secretion	1
regulation of hormone secretion	1
negative regulation of secretion by cell	1
inflammatory response	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
regulation of inflammatory response	1
peptidyl-tyrosine phosphorylation	1
regulation of peptidyl-tyrosine phosphorylation	1
cell division	1
regulation of cell division	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1

Protein interactions and networks

STRING

1828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OSM	OSMR	Q99650	998
OSM	LIFR	P42702	997
OSM	IL6ST	P40189	945
OSM	IL11	P20809	934
OSM	LIF	P15018	929
OSM	IL31RA	Q8NI17	928
OSM	IL6	P05231	903
OSM	CNTF	P26441	887
OSM	CTF1	Q16619	866
OSM	IL31	Q6EBC2	843
OSM	STAT3	P40763	828
OSM	HGF	P14210	775
OSM	JAK2	O60674	774
OSM	STAT5A	P42229	750
OSM	JAK1	P23458	741

IntAct

12 interactions, top by confidence:

A	B	Type	Score
OSM	IL6ST	psi-mi:“MI:0914”(association)	0.760
OSM	IL6ST	psi-mi:“MI:0407”(direct interaction)	0.760
ZNF410	OSM	psi-mi:“MI:0915”(physical association)	0.490
OSM	ZNF410	psi-mi:“MI:0915”(physical association)	0.490
SORT1	OSM	psi-mi:“MI:0407”(direct interaction)	0.440
LIFR	OSM	psi-mi:“MI:0407”(direct interaction)	0.440
TNNT1	OSM	psi-mi:“MI:0915”(physical association)	0.370
COL4A6	OSM	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (24): C1QBP (Affinity Capture-MS), UBE2O (Affinity Capture-MS), IL6ST (Affinity Capture-MS), C5orf22 (Affinity Capture-MS), ZNF579 (Affinity Capture-MS), TRPM3 (Affinity Capture-MS), COL4A6 (Co-localization), OSM (Reconstituted Complex), IL6ST (Affinity Capture-MS), C5orf22 (Affinity Capture-MS), C1QBP (Affinity Capture-MS), TRPM3 (Affinity Capture-MS), ZNF579 (Affinity Capture-MS), OSM (Two-hybrid), OSM (Affinity Capture-Western)

ESM2 similar proteins: A0A140LIA7, A0A1B0GTL2, A2VDX9, A3FFS8, A6NCS6, A8MVW0, K9M1U5, O43541, P01588, P03971, P03972, P07321, P07865, P0C7N4, P0DPE3, P13725, P27106, P29676, P33707, P33708, P33709, P48617, P49000, P49157, P53346, P79295, Q02011, Q0Z956, Q16619, Q1HCM0, Q28513, Q29RM6, Q5BLP8, Q5S1V9, Q60753, Q63086, Q65Z15, Q6H8S9, Q6H8T0, Q6H8T1

Diamond homologs: P13725, P53346, P53347, Q65Z15

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
OSM	up-regulates	OSMR	binding
OSM	up-regulates	LIFR	binding
OSM	“up-regulates quantity by expression”	AHR	“transcriptional regulation”
OSM	up-regulates	IL6ST	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

62 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	51
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4278461	NM_020530.6(OSM):c.289C>T (p.Gln97Ter)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1636 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:30264399:G:C	F81L	0.989
22:30264399:G:T	F81L	0.989
22:30264401:A:G	F81L	0.989
22:30264400:A:C	F81C	0.986
22:30264006:C:A	W212C	0.976
22:30264006:C:G	W212C	0.976
22:30264087:A:C	F185L	0.976
22:30264087:A:T	F185L	0.976
22:30264089:A:G	F185L	0.976
22:30264195:G:C	N149K	0.976
22:30264195:G:T	N149K	0.976
22:30264050:A:C	Y198D	0.973
22:30264088:A:C	F185C	0.969
22:30264067:C:G	C192S	0.967
22:30264068:A:T	C192S	0.967
22:30264186:G:C	C152W	0.967
22:30264400:A:G	F81S	0.967
22:30264187:C:T	C152Y	0.964
22:30264358:A:G	F95S	0.964
22:30264208:C:T	G145E	0.963
22:30264209:C:G	G145R	0.960
22:30264209:C:T	G145R	0.960
22:30264068:A:G	C192R	0.959
22:30264067:C:T	C192Y	0.958
22:30264421:C:G	C74S	0.958
22:30264422:A:T	C74S	0.958
22:30264187:C:G	C152S	0.954
22:30264188:A:T	C152S	0.954
22:30264008:A:G	W212R	0.953
22:30264008:A:T	W212R	0.953

dbSNP variants (sampled 300 via entrez): RS1000106555 (22:30266522 C>A,T), RS1000277910 (22:30264559 A>G), RS1000815266 (22:30268808 T>G), RS1001550599 (22:30265776 A>T), RS1001566032 (22:30265355 G>A), RS1001741415 (22:30265921 C>T), RS1003152698 (22:30268560 A>G,T), RS1003330315 (22:30267303 C>T), RS1003392493 (22:30263469 C>A), RS1003441086 (22:30268816 C>T), RS1003897797 (22:30267015 G>A), RS1004904910 (22:30265732 C>T), RS1004956894 (22:30262971 C>G,T), RS1004957248 (22:30265478 C>T), RS1005571155 (22:30268190 G>C)

Disease associations

OMIM: gene MIM:165095 | disease phenotypes: MIM:616268

GenCC curated gene-disease

Mondo (1): autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome (MONDO:0014558)

Orphanet (1): KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome (Orphanet:457193)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

50 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
tofacitinib	increases phosphorylation, decreases reaction, increases expression, increases secretion, increases activity	3
methylmercuric chloride	affects response to substance, affects reaction, increases expression, affects binding, increases reaction (+1 more)	2
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases reaction, increases activity, increases expression, increases secretion	2
2-tert-butyl-9-fluoro-3,6-dihydro-7H-benz(h)imidazo(4,5-f)isoquinoline-7-one	increases reaction, decreases expression, decreases reaction, increases expression, increases secretion (+1 more)	2
Nickel	increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
baricitinib	increases activity, increases phosphorylation, decreases reaction, increases expression	1
tungsten carbide	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
hydroxyflutamide	affects binding, increases activity, increases reaction	1
arsenite	decreases reaction, increases abundance, increases phosphorylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases abundance, increases phosphorylation, decreases reaction	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	increases expression	1
bicalutamide	decreases reaction, increases activity	1
antimonite	decreases reaction, increases abundance, increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
SB 203580	decreases reaction, increases expression, increases secretion	1
thrombin receptor-activating peptide SFLLRNPNDKY	decreases reaction, increases secretion	1
U 0126	decreases expression, decreases reaction, increases reaction	1
pyrazolanthrone	decreases reaction, increases expression, increases secretion	1
3-(4-methylphenylsulfonyl)-2-propenenitrile	affects cotreatment, decreases methylation, decreases reaction	1
GW 707	affects localization, increases reaction, increases activity, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
PF 956980	decreases reaction, increases expression, increases activity, increases phosphorylation	1
(+)-JQ1 compound	decreases expression	1
KL001	increases expression, increases phosphorylation, affects cotreatment, decreases reaction	1
Erlotinib Hydrochloride	affects cotreatment, affects expression	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1N5	HyCyte THP-1 KO-hOSM	Cancer cell line	Male
CVCL_T387	Psi-CRIP-MFGhOncost-M	Transformed cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.