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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZMYND11
zinc finger MYND-type containing 11
Chromosome 10 Β· 10p15.3
NCBI Gene: 10771Ensembl: ENSG00000015171.21HGNC: HGNC:16966UniProt: A0A0D9SGD6
69PubMed Papers
21Diseases
0Drugs
86Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription FactorTumor Suppressor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleusnucleoplasmnegative regulation of canonical NF-kappaB signal transductionnegative regulation of JNK cascadeintellectual disability, autosomal dominant 30Intellectual disabilitygenetic disordersmoking initiation
✦AI Summary

ZMYND11 encodes a histone reader protein that functions as a transcriptional corepressor, primarily through recognition of H3K36me3 histone modifications and control of transcription elongation 1. It acts as an epigenetic regulator that can eject the elongation corepressor from actively transcribed genes 1, while also regulating brain-specific RNA splicing through RBFOX2 to control developmental pathways 23. Beyond its canonical histone-reading role, ZMYND11 exhibits noncanonical function as a reader of arginine-methylated HNRNPA1, restricting stress granule formation and tumor progression 4. Pathogenic variants in ZMYND11 cause autosomal dominant syndromic intellectual disability characterized by developmental delay with speech impairment, behavioral abnormalities, seizures, and hypotonia 56. Loss-of-function mutations disrupt cortical neurogenesis by inappropriate upregulation of latent developmental pathways in neural stem cells 23. ZMYND11 variants also associate with autism, aggression, and complex neuropsychiatric features 5, and represent a genetic risk factor for schizophrenia 7. Clinically, ZMYND11-related disease presents with distinctive dysmorphic features and potentially metabolic complications 68. The homogeneous phenotype likely results from common loss-of-function mechanisms 6.

Sources cited
1
ZMYND11 truncations associated with autism, aggression, and complex neuropsychiatric features in developmental delay cohort
PMID: 25217958
2
ZMYND11 functions as elongation corepressor ejected by H3.3S31 phosphorylation at stimulation-induced genes
PMID: 32699416
3
ZMYND11 pathogenic variants cause intellectual disability, behavioral abnormalities, seizures, hypotonia, and dysmorphic features through loss-of-function
PMID: 32097528
4
ZMYND11 exhibits noncanonical function as reader of arginine-methylated HNRNPA1 to suppress tumor progression and stress granule formation
PMID: 39341825
5
ZMYND11 mutations impair cortical neurogenesis by upregulating latent developmental pathways and disrupting RBFOX2-mediated brain-specific splicing
PMID: 39464123
6
ZMYND11 regulates transcriptional elongation and brain-specific RNA splicing to safeguard human cortical development
PMID: 41068108
7
ZMYND11 identified as schizophrenia risk gene enriched for rare coding variants in developmental and psychiatric disorders
PMID: 40753099
8
ZMYND11 variants associate with intellectual disability, speech delay, behavioral abnormalities, and potentially hyperinsulinemic hypoglycemia
PMID: 38397245
Disease Associationsβ“˜21
intellectual disability, autosomal dominant 30Open Targets
0.70Strong
Intellectual disabilityOpen Targets
0.59Moderate
genetic disorderOpen Targets
0.53Moderate
smoking initiationOpen Targets
0.39Weak
syndromic complex neurodevelopmental disorderOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.34Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
2q23.1 microdeletion syndromeOpen Targets
0.12Weak
Absent speechOpen Targets
0.12Weak
Chronic constipationOpen Targets
0.12Weak
Decreased body weightOpen Targets
0.12Weak
Motor delayOpen Targets
0.12Weak
Self-injurious behaviorOpen Targets
0.12Weak
Self-mutilationOpen Targets
0.12Weak
schizophreniaOpen Targets
0.11Weak
pheochromocytoma/paraganglioma syndrome 5Open Targets
0.11Weak
neoplasmOpen Targets
0.09Suggestive
prostate cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.07Suggestive
gram-positive bacterial infectionsOpen Targets
0.07Suggestive
Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalitiesUniProt
Pathogenic Variants86
NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 30|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 249
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter)Pathogenic
Inborn genetic diseases|not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2025β†’ Residue 358
NM_001370100.5(ZMYND11):c.876_882del (p.Phe293fs)Pathogenic
Intellectual disability, autosomal dominant 30|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 293
NM_001370100.5(ZMYND11):c.127C>T (p.Arg43Ter)Pathogenic
Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2025β†’ Residue 43
NM_001370100.5(ZMYND11):c.912_915del (p.Asn304fs)Pathogenic
not provided|See cases|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2025β†’ Residue 304
NM_001370100.5(ZMYND11):c.926G>A (p.Arg309His)Likely pathogenic
Intellectual disability, autosomal dominant 30|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 309
NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter)Pathogenic
Intellectual disability, autosomal dominant 30|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 8
NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2024β†’ Residue 440
NM_001370100.5(ZMYND11):c.1195C>T (p.Arg399Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2024β†’ Residue 399
NM_001370100.5(ZMYND11):c.76C>T (p.Arg26Trp)Pathogenic
Intellectual disability, autosomal dominant 30|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 26
NM_001370100.5(ZMYND11):c.950+2T>GLikely pathogenic
not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2024
NM_001370100.5(ZMYND11):c.737_738del (p.Lys246fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2024β†’ Residue 246
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)Pathogenic
Inborn genetic diseases|not provided|Intellectual disability, autosomal dominant 30|Global developmental delay|Neurodevelopmental disorder|ZMYND11-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 600
NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 234
NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 463
NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2021β†’ Residue 590
NM_001370100.5(ZMYND11):c.82C>T (p.Gln28Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β˜…β˜…β˜†β˜†2021β†’ Residue 28
NM_001370100.5(ZMYND11):c.1793G>A (p.Cys598Tyr)Likely pathogenic
Intellectual disability, autosomal dominant 30
β˜…β˜†β˜†β˜†2025β†’ Residue 598
NM_001370100.5(ZMYND11):c.1720T>G (p.Cys574Gly)Likely pathogenic
Intellectual disability, autosomal dominant 30
β˜…β˜†β˜†β˜†2025β†’ Residue 574
NM_001370100.5(ZMYND11):c.1756CAG[1] (p.Gln587del)Likely pathogenic
Intellectual disability, autosomal dominant 30|Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 587
View on ClinVar β†—
Related Genes
TRAF6Protein interaction100%SETD2Protein interaction99%TRAF3Protein interaction97%EMSYProtein interaction92%H3-4Protein interaction91%DEAF1Protein interaction89%
Tissue Expression6 tissues
Heart
100%
Brain
76%
Ovary
49%
Lung
34%
Liver
27%
Bone Marrow
25%
Gene Interaction Network
Click a node to explore
ZMYND11TRAF6SETD2TRAF3EMSYH3-4DEAF1
PROTEIN STRUCTURE
Preparing viewer…
PDB8XU6 Β· 1.63 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.17Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.09 [0.05–0.17]
RankingsWhere ZMYND11 stands among ~20K protein-coding genes
  • #6,870of 20,598
    Most Researched69
  • #873of 5,498
    Most Pathogenic Variants86 Β· top quartile
  • #281of 17,882
    Most Constrained (LOEUF)0.17 Β· top 5%
Genes detectedZMYND11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
PMID: 25217958
Nat Genet Β· 2014
1.00
2
Histone H3.3 phosphorylation amplifies stimulation-induced transcription.
PMID: 32699416
Nature Β· 2020
0.90
3
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
PMID: 32097528
Hum Mutat Β· 2020
0.80
4
Epigenetic reader ZMYND11 noncanonical function restricts HNRNPA1-mediated stress granule formation and oncogenic activity.
PMID: 39341825
Signal Transduct Target Ther Β· 2024
0.70
5
ZMYND11 Functions in Bimodal Regulation of Latent Genes and Brain-like Splicing to Safeguard Corticogenesis.
PMID: 39464123
bioRxiv Β· 2024
0.60