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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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KDM4E
lysine demethylase 4E
Chromosome 11 · 11q21
NCBI Gene: 390245Ensembl: ENSG00000235268.2HGNC: HGNC:37098UniProt: B2RXH2
7PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
histone H3K56me2/H3K56me3 demethylase activityhistone H3K9me2/H3K9me3 demethylase activitynucleuschromatinobesitybreast ductal adenocarcinomahemolytic anemiaAbnormality of the skeletal system
✦AI Summary

KDM4E is a histone demethylase belonging to the Fe(II)/2-oxoglutarate-dependent family that catalyzes removal of methyl groups from histone lysine residues, thereby regulating epigenetic states and gene expression 1. Its primary function involves demethylating trimethylated histone H3 lysine 9 (H3K9me3) to monomethylated forms and demethylating H3K56me3, playing a central role in histone code regulation 23. KDM4E also demonstrates activity on linker histone H1 methylated residues, with particularly high efficiency 4. The enzyme exhibits oxygen-dependent activity across physiologically relevant concentrations, suggesting potential regulation by cellular oxygen availability 1. KDM4E is transcriptionally activated by the DUX4 transcription factor during cleavage-stage development and in FSHD-associated myocytes, representing a key target gene in developmental and pathological contexts 56. Clinically, KDM4E has emerged as therapeutically relevant in cancer and cardiac pathology; baicalein enhances KDM4E expression to suppress triple-negative breast cancer progression through BICD1-mediated PAR1 signaling inhibition 7, while dysregulation occurs in post-ischemic hearts where excessive branched-chain amino acids trigger KDM4E-dependent H3K9me3 loss, impairing mesenchymal stem cell survival 8. Selective KDM4E inhibitors represent promising anti-cancer agents under development 910.

Sources cited
1
KDM4E demethylates H3K9me3, playing a central role in histone code
PMID: 21914792
2
KDM4E demethylates both H3K9me3 and H3K56me3 to monomethylated states
PMID: 23451023
3
KDM4E is a Fe(II)/2-oxoglutarate-dependent histone demethylase with oxygen-dependent activity
PMID: 23092293
4
DUX4 activates KDM4E expression as part of cleavage-stage transcriptional programs
PMID: 28459457
5
KDM4E catalyzes demethylation of linker histone H1 methylated lysine residues with high efficiency
PMID: 40843439
6
KDM4E inhibits triple-negative breast cancer progression via BICD1-mediated PAR1 signaling blockade
PMID: 38607237
7
mTORC1/DUX4/KDM4E axis mediates H3K9me3 loss in MSCs exposed to pathological BCAA levels
PMID: 35654769
8
KDM4E is implicated in cancer and is a target for selective inhibitor development
PMID: 38636391
9
KDM4E is one of five KDM4 subfamily members with potential as anti-cancer therapeutic targets
PMID: 25468267
10
KDM4E is a DUX4 target gene regulated in FSHD patient myocytes
PMID: 33502067
Disease Associationsⓘ18
obesityOpen Targets
0.25Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
hemolytic anemiaOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.03Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
nail-patella syndromeOpen Targets
0.01Suggestive
atrial fibrillationOpen Targets
0.01Suggestive
infarctionOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Down syndromeOpen Targets
0.00Suggestive
gastric carcinomaOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
myocardial infarctionOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRDM13Shared pathway100%PRDM6Shared pathway100%KDM4FShared pathway100%KDM6AShared pathway67%UTYShared pathway67%SRCAPShared pathway67%
Tissue Expression6 tissues
Ovary
100%
Lung
14%
Bone Marrow
14%
Liver
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
KDM4EPRDM13PRDM6KDM4FKDM6AUTYSRCAP
PROTEIN STRUCTURE
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PDB2W2I · 2.10 Å · X-ray
View on RCSB ↗
RankingsWhere KDM4E stands among ~20K protein-coding genes
  • #17,849of 20,598
    Most Researched7
Genes detectedKDM4E
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL/HERVL retrotransposons.
PMID: 28459457
Nat Genet · 2017
1.00
2
Excessive branched-chain amino acid accumulation restricts mesenchymal stem cell-based therapy efficacy in myocardial infarction.
PMID: 35654769
Signal Transduct Target Ther · 2022
0.90
3
Investigations on the oxygen dependence of a 2-oxoglutarate histone demethylase.
PMID: 23092293
Biochem J · 2013
0.80
4
Structural simulation and selective inhibitor discovery study for histone demethylases KDM4E/6B from a computational perspective.
PMID: 38636391
Comput Biol Chem · 2024
0.70
5
Baicalein promotes KDM4E to induce BICD1 and inhibit triple-negative breast cancer progression by blocking PAR1 signaling.
PMID: 38607237
Mol Carcinog · 2024
0.60