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GeneE
3 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.
H4C11
H4 clustered histone 11
Chromosome 6 Β· 6p22.1
NCBI Gene: 8363Ensembl: ENSG00000158406.6HGNC: HGNC:20510UniProt: B2R4R0
132PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Swiss-Prot Reviewed
infectious diseaseviral diseaseTessadori-Van Haaften neurodevelopmental syndrome 3breast carcinoma
✦AI Summary

H4C11 (H4 clustered histone 11) encodes one of fourteen canonical human histone H4 proteins that form the core of nucleosomes, fundamental structures supporting DNA replication, transcription, and repair 1. As a core histone protein, H4C11 participates in chr6 organization through histone octamer assembly and protein-protein interactions with other histone subunits and histone chaperones 1. De novo missense variants in H4C11 and other H4 genes cause a neurodevelopmental syndrome characterized by intellectual disability and motor/gross developmental delay, with variants clustering in the H4 globular domain and C-terminal tail where critical protein interactions occur 1. Zebrafish models of H4C11 variants demonstrated abnormal development, defective head organs, and reduced body axis length, establishing causality for the disorder 1. Beyond neurodevelopmental disease, H4C11 has been identified as a core regulatory gene in pulpitis pathogenesis, emerging as a potential therapeutic target in a neutrophil extracellular trap-associated competitive endogenous RNA network 2. Additionally, H4C11 appears in protein-protein interaction networks in colon adenocarcinoma research, suggesting broader involvement in disease pathways 3. These findings establish H4C11 as a functionally critical histone with implications for both developmental and inflammatory disease mechanisms.

Sources cited
1
H4C11 encodes a core histone protein essential for nucleosome formation and supports DNA replication, transcription, and repair; de novo missense variants in H4C11 cause neurodevelopmental syndrome with intellectual disability and developmental delay
PMID: 35202563
2
H4C11 identified as a core regulatory gene in pulpitis pathogenesis within neutrophil extracellular trap-associated competitive endogenous RNA networks
PMID: 40902508
3
H4C11 identified in protein-protein interaction networks in colon adenocarcinoma research with higher degree connectivity
PMID: 36407085
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
infectious diseaseOpen Targets
0.50Moderate
viral diseaseOpen Targets
0.50Moderate
Tessadori-Van Haaften neurodevelopmental syndrome 3Open Targets
0.46Moderate
breast carcinomaOpen Targets
0.39Weak
cancerOpen Targets
0.38Weak
melanomaOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
squamous cell lung carcinomaOpen Targets
0.11Weak
posterior cortical atrophyOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.07Suggestive
actinic keratosisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
squamous cell carcinomaOpen Targets
0.04Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
polycystic kidney disease 5Open Targets
0.04Suggestive
Pathogenic Variants2
NM_021968.4(H4C11):c.106C>T (p.Arg36Trp)Likely pathogenic
Tessadori-van Haaften neurodevelopmental syndrome 2
β˜…β˜†β˜†β˜†2023β†’ Residue 36
NM_021968.4(H4C11):c.274A>G (p.Lys92Glu)Pathogenic
Tessadori-van Haaften neurodevelopmental syndrome 2
β˜†β˜†β˜†β˜†2023β†’ Residue 92
View on ClinVar β†—
Related Genes
H3C12Protein interaction100%H2BC12Protein interaction100%H2BC11Protein interaction99%H2AC21Protein interaction98%H4C2Protein interaction98%H3C7Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
15%
Lung
7%
Ovary
7%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
H4C11H3C12H2BC12H2BC11H2AC21H4C2H3C7
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P62805
View on AlphaFold β†—
RankingsWhere H4C11 stands among ~20K protein-coding genes
  • #3,528of 20,598
    Most Researched132 Β· top quartile
  • #4,282of 5,498
    Most Pathogenic Variants2
Genes detectedH4C11
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
PMID: 35202563
Am J Hum Genet Β· 2022
1.00
2
Initial Insights into the NET-Associated ceRNA Network in Pulpitis: Transcriptomic and Functional Exploration.
PMID: 40902508
Int Dent J Β· 2025
0.67
3
Downregulation of hsa-miR-135b-5p Inhibits Cell Proliferation, Migration, and Invasion in Colon Adenocarcinoma.
PMID: 36407085
Genet Res (Camb) Β· 2022
0.33