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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZMYND8
zinc finger MYND-type containing 8
Chromosome 20 Β· 20q13.12
NCBI Gene: 23613Ensembl: ENSG00000101040.20HGNC: HGNC:9397UniProt: A0A087WVZ6
123PubMed Papers
20Diseases
0Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHomologous RecombinationTranscription FactorTumor Suppressor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein localization to chromatinhistone H3K4me1 reader activitynegative regulation of transcription by RNA polymerase IInucleusneuroinflammatory disorderNeurodevelopmental disorderIntellectual disabilitymajor depressive disorder
✦AI Summary

ZMYND8 is a chr20 reader protein that recognizes dual histone modifications, particularly H3.1K36me2-H4K16ac and H3K4me1-H3K14ac marks, functioning as both a transcriptional corepressor and activator depending on cellular context 1. The protein plays critical roles in neurodevelopment, with de novo variants causing syndromic intellectual disability, cardiac malformations, and cognitive dysfunction 1. In cancer, ZMYND8 exhibits complex, context-dependent functions. It acts as a tumor suppressor in some contexts by inhibiting cell invasion and metastasis, while promoting oncogenic processes in others 234. In breast cancer stem cells, ZMYND8 activates NRF2 signaling to protect against oxidative stress and ferroptosis through a positive feedback loop 2. In prostate cancer, ZMYND8 mediates antiandrogen-induced neuroendocrine transdifferentiation by interacting with FOXM1 and the SWI/SNF complex 3. The protein is essential for acute myeloid leukemia proliferation through direct activation of IRF8 and MYC transcriptional programs via BRD4 interaction 4. ZMYND8 also promotes pancreatic cancer progression by activating c-Myc and enhancing glycolytic metabolism 5, while its degradation by the lncRNA TROJAN contributes to triple-negative breast cancer progression 6.

Sources cited
1
ZMYND8 functions as chromatin reader recognizing dual histone modifications and causes neurodevelopmental disorder when mutated
PMID: 35916866
2
ZMYND8 protects breast cancer stem cells through NRF2 activation and positive feedback loop
PMID: 38488001
3
ZMYND8 mediates antiandrogen-induced neuroendocrine transdifferentiation in prostate cancer
PMID: 40102673
4
ZMYND8 is essential for AML proliferation through IRF8 and MYC activation via BRD4 interaction
PMID: 34358447
5
ZMYND8 degradation by TROJAN lncRNA promotes triple-negative breast cancer progression
PMID: 30854423
6
ZMYND8 promotes pancreatic cancer through c-Myc activation and glycolytic metabolism enhancement
PMID: 40579459
Disease Associationsβ“˜20
neuroinflammatory disorderOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.45Moderate
Intellectual disabilityOpen Targets
0.44Moderate
major depressive disorderOpen Targets
0.41Moderate
Abnormal cardiovascular system morphologyOpen Targets
0.37Weak
Abnormality of the faceOpen Targets
0.37Weak
Abnormality of visionOpen Targets
0.37Weak
Delayed speech and language developmentOpen Targets
0.37Weak
Hearing abnormalityOpen Targets
0.37Weak
Motor delayOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
syndromic complex neurodevelopmental disorderOpen Targets
0.37Weak
insomniaOpen Targets
0.36Weak
coffee consumptionOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.34Weak
hyperaldosteronismOpen Targets
0.28Weak
skin neoplasmOpen Targets
0.28Weak
migraine disorderOpen Targets
0.28Weak
androgenetic alopeciaOpen Targets
0.28Weak
Pathogenic Variants4
NM_001281775.3(ZMYND8):c.1624C>T (p.Arg542Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 542
NM_001281775.3(ZMYND8):c.1960_1964del (p.Lys654fs)Pathogenic
Neurodevelopmental disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 654
NM_001281775.3(ZMYND8):c.749G>A (p.Gly250Glu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 250
NM_001281775.3(ZMYND8):c.1877del (p.Asp626fs)Likely pathogenic
Intellectual disability
β˜…β˜†β˜†β˜†2023β†’ Residue 626
View on ClinVar β†—
Related Genes
INTS3Protein interaction100%INTS5Protein interaction100%INTS1Protein interaction100%ZNF687Protein interaction99%INTS6Protein interaction99%HDAC1Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
62%
Ovary
40%
Lung
38%
Heart
35%
Liver
33%
Gene Interaction Network
Click a node to explore
ZMYND8INTS3INTS5INTS1ZNF687INTS6HDAC1
PROTEIN STRUCTURE
Preparing viewer…
PDB4COS Β· 1.67 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.20–0.34]
RankingsWhere ZMYND8 stands among ~20K protein-coding genes
  • #3,844of 20,598
    Most Researched123 Β· top quartile
  • #3,726of 5,498
    Most Pathogenic Variants4
  • #1,426of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedZMYND8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
PMID: 35916866
Genet Med Β· 2022
1.00
2
ZMYND8 protects breast cancer stem cells against oxidative stress and ferroptosis through activation of NRF2.
PMID: 38488001
J Clin Invest Β· 2024
0.90
3
Targeting the histone reader ZMYND8 inhibits antiandrogen-induced neuroendocrine tumor transdifferentiation of prostate cancer.
PMID: 40102673
Nat Cancer Β· 2025
0.80
4
The endogenous retrovirus-derived long noncoding RNA TROJAN promotes triple-negative breast cancer progression via ZMYND8 degradation.
PMID: 30854423
Sci Adv Β· 2019
0.70
5
ZMYND8-regulated IRF8 transcription axis is an acute myeloid leukemia dependency.
PMID: 34358447
Mol Cell Β· 2021
0.60