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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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JMJD4
jumonji domain containing 4
Chromosome 1 · 1q42.13
NCBI Gene: 65094Ensembl: ENSG00000081692.14HGNC: HGNC:25724UniProt: Q9H9V9
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein hydroxylation2-oxoglutarate-dependent dioxygenase activityprotein bindingpositive regulation of translational terminationAbnormality of the skeletal systemVaricose veinslymphatic system diseasechondromalacia
✦AI Summary

JMJD4 (jumonji domain containing 4) is a 2-oxoglutarate and iron-dependent dioxygenase that catalyzes protein hydroxylation with diverse physiological roles 1. Its primary function involves lysine hydroxylation of target proteins: it hydroxylates ETF1 at lysine-63 to promote translational termination efficiency, and hydroxylates PKM2 at lysine-66 to facilitate its chaperone-mediated autophagy degradation 2. JMJD4 also mediates demethylation of RIG-I at lysines 18 and 146, suppressing IL-6-STAT3 signaling and cholesterol synthesis 3. Clinically, JMJD4 demonstrates opposing roles in different disease contexts. In cardiac pathology, decreased JMJD4 expression contributes to dilated cardiomyopathy through PKM2 accumulation and impaired mitochondrial respiration 2, while JMJD4-mediated RIG-I demethylation protects against hepatic steatosis and both necroinflammation- and NASH-driven hepatocarcinogenesis 3. Conversely, elevated JMJD4 expression associates with poor prognosis in multiple cancers: colon adenocarcinoma 4, renal cell carcinoma 5, and lung cancer 6. JMJD4 promotes tumor progression by interacting with and suppressing PDCD5, thereby inhibiting TP53-dependent apoptosis and increasing chemoresistance 6. These findings position JMJD4 as a context-dependent therapeutic target amenable to small-molecule inhibition.

Sources cited
1
JMJD4 hydroxylates PKM2 at K66 and mediates its degradation via chaperone-mediated autophagy; JMJD4 deficiency causes dilated cardiomyopathy with impaired mitochondrial respiration
PMID: 37066795
2
JMJD4 demethylates RIG-I at K18 and K146, suppressing IL-6-STAT3 signaling and cholesterol synthesis; JMJD4-demethylated RIG-I prevents hepatic steatosis and hepatocarcinogenesis
PMID: 36333807
3
JMJD4 is a small JMJD protein subfamily member with diverse functions beyond histone demethylation, including protein hydroxylation
PMID: 31034925
4
JMJD4 expression is significantly higher in colon adenocarcinoma tissue; high JMJD4 expression associates with poor survival and is an independent prognostic indicator
PMID: 30029884
5
High JMJD4 expression in renal cell carcinoma associates with poor overall survival and promotes cancer cell invasion, cloning ability, and proliferation
PMID: 34980950
6
JMJD4 interacts with PDCD5, suppresses its protein levels, and promotes cell proliferation and chemoresistance by inhibiting TP53-dependent apoptosis
PMID: 39567206
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.12Weak
Varicose veinsOpen Targets
0.12Weak
lymphatic system diseaseOpen Targets
0.12Weak
chondromalaciaOpen Targets
0.11Weak
vein disorderOpen Targets
0.11Weak
osteoarthritis, handOpen Targets
0.08Suggestive
carpal tunnel syndromeOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.05Suggestive
HyperhidrosisOpen Targets
0.05Suggestive
bronchial diseaseOpen Targets
0.05Suggestive
OligodontiaOpen Targets
0.04Suggestive
tooth agenesisOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
amelogenesis imperfectaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
dentin dysplasia type IOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ALKBH2Protein interaction99%ALKBH1Protein interaction97%ALKBH4Protein interaction97%ALKBH5Protein interaction97%ALKBH6Protein interaction95%ALKBH7Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Ovary
96%
Heart
69%
Brain
67%
Lung
45%
Bone Marrow
20%
Gene Interaction Network
Click a node to explore
JMJD4ALKBH2ALKBH1ALKBH4ALKBH5ALKBH6ALKBH7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H9V9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.77–1.34]
RankingsWhere JMJD4 stands among ~20K protein-coding genes
  • #14,175of 20,598
    Most Researched20
  • #14,061of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedJMJD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Jmjd4 Facilitates Pkm2 Degradation in Cardiomyocytes and Is Protective Against Dilated Cardiomyopathy.
PMID: 37066795
Circulation · 2023
1.00
2
JMJD4-demethylated RIG-I prevents hepatic steatosis and carcinogenesis.
PMID: 36333807
J Hematol Oncol · 2022
0.90
3
The small members of the JMJD protein family: Enzymatic jewels or jinxes?
PMID: 31034925
Biochim Biophys Acta Rev Cancer · 2019
0.80
4
Correlation between high expression levels of jumonji domain-containing 4 and short survival in cases of colon adenocarcinoma.
PMID: 30029884
Biochem Biophys Res Commun · 2018
0.70
5
JMJD4 promotes tumor progression via inhibition of the PDCD5-TP53 pathway.
PMID: 39567206
BMB Rep · 2025
0.60