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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EZHIP
EZH inhibitory protein
Chromosome X · Xp11.22
NCBI Gene: 340602Ensembl: ENSG00000187690.4HGNC: HGNC:33738UniProt: A0A515VFR0
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinghistone methyltransferase inhibitor activitychromatin organizationepigenetic regulation of gene expressionprimary ovarian insufficiencyosteosarcomaneoplasm46,XX gonadal dysgenesis
✦AI Summary

EZHIP (EZH inhibitory protein) functions as a negative regulator of polycomb repressive complex 2 (PRC2), inhibiting EZH1 and EZH2 methyltransferase activity and causing global reduction of the repressive histone mark H3K27me3 12. This mechanism mirrors that of the oncohistone H3K27M in diffuse midline gliomas 32. EZHIP is aberrantly overexpressed in posterior fossa group A (PFA) ependymomas, where it drives oncogenic programs by enabling H3K27ac enrichment at metabolic genes, enhancing glycolysis and TCA cycle metabolism 1. The protein also promotes neuronal-like synaptic gene programs while repressing polyamine metabolism 4. EZHIP expression creates unique three-dimensional genomic structures called TULIPs (type B ultra long-range interactions) that are characteristic of PFA ependymomas 5. Beyond pediatric brain tumors, EZHIP shows oncogenic activity in osteosarcomas, where it impedes mesenchymal differentiation and correlates with poor therapeutic response 6. EZHIP mutations occur not only in PFA ependymomas but also in rare cases of medulloblastoma and pediatric high-grade gliomas 4. The protein represents a potential therapeutic target, as metformin treatment can reduce EZHIP levels and restore H3K27me3 deposition 1.

Sources cited
1
EZHIP overexpression in PFA ependymomas causes global H3K27me3 reduction and enhances metabolic pathways; metformin can therapeutically target EZHIP
PMID: 34613815
2
EZHIP is a negative regulator of PRC2 that mirrors H3K27M oncohistone function in diffuse midline gliomas
PMID: 39343635
3
EZHIP and H3K27M share molecular mechanisms and developmental pathway involvement in hindbrain tumors
PMID: 36759899
4
EZHIP promotes neuronal-like gene programs, represses polyamine metabolism, and has mutations in multiple pediatric brain tumor types
PMID: 41204377
5
EZHIP expression induces formation of TULIPs, unique 3D genomic structures in PFA ependymomas
PMID: 38986619
6
EZHIP shows oncogenic activity in osteosarcomas by impeding mesenchymal differentiation and correlating with poor outcomes
PMID: 40695784
Disease Associationsⓘ20
primary ovarian insufficiencyOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.06Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
Perrault syndrome 6Open Targets
0.05Suggestive
ovarian dysgenesis 10Open Targets
0.05Suggestive
Perrault syndrome 2Open Targets
0.05Suggestive
Primary hypergonadotropic hypogonadism - partial alopeciaOpen Targets
0.05Suggestive
primary hypergonadotropic hypogonadism-partial alopecia syndromeOpen Targets
0.05Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.05Suggestive
premature ovarian failure 18Open Targets
0.04Suggestive
Familial hyperprolactinemiaOpen Targets
0.04Suggestive
familial hyperprolactinemiaOpen Targets
0.04Suggestive
aromatase deficiencyOpen Targets
0.04Suggestive
ovarian dysgenesis 9Open Targets
0.04Suggestive
premature ovarian failure 8Open Targets
0.04Suggestive
premature ovarian failure 21Open Targets
0.04Suggestive
Osteosclerosis - ichthyosis - premature ovarian failureOpen Targets
0.04Suggestive
osteosclerosis-ichthyosis-premature ovarian failure syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HDAC11Shared pathway100%EZH2Protein interaction100%MBTD1Protein interaction78%H3C1Shared pathway50%DCAF8Shared pathway50%DCAF16Shared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
12%
Bone Marrow
8%
Liver
4%
Brain
2%
Heart
0%
Gene Interaction Network
Click a node to explore
EZHIPHDAC11EZH2MBTD1H3C1DCAF8DCAF16
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86X51
View on AlphaFold ↗
RankingsWhere EZHIP stands among ~20K protein-coding genes
  • #12,784of 20,598
    Most Researched26
Genes detectedEZHIP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO Classification.
PMID: 36534421
Pathologica · 2022
1.00
2
Targeting integrated epigenetic and metabolic pathways in lethal childhood PFA ependymomas.
PMID: 34613815
Sci Transl Med · 2021
0.90
3
EZHIP boosts neuronal-like synaptic gene programs and depresses polyamine metabolism.
PMID: 41204377
Acta Neuropathol Commun · 2025
0.80
4
EZHIP's role in diffuse midline glioma: echoes of oncohistones?
PMID: 39343635
Trends Cancer · 2024
0.70
5
cIMPACT-NOW update 11: Proposal on adaptation of diagnostic criteria for IDH- and H3-wildtype diffuse high-grade gliomas and for posterior fossa ependymal tumors.
PMID: 40887057
Brain Pathol · 2026
0.60