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GeneE
2 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.
H4C9
H4 clustered histone 9
Chromosome 6 Β· 6p22.1
NCBI Gene: 8294Ensembl: ENSG00000158406.6HGNC: HGNC:20510UniProt: P62805
163PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
βœ“ Swiss-Prot Reviewed
infectious diseaseviral diseaseTessadori-van Haaften neurodevelopmental syndrome 2Tessadori-Van Haaften neurodevelopmental syndrome 3
✦AI Summary

Based on limited published evidence, H4C9 encodes histone H4, a core component of the nucleosome octamer essential for DNA packaging and chr6 organization. H4C9 supports fundamental cellular processes including DNA replication, transcription, and repair 1. De novo missense variants in H4C9 cause a neurodevelopmental syndrome characterized by intellectual disability and developmental delay, with mutations clustering in the H4 core domain affecting histone-histone and histone-chaperone interactions 1. Additionally, H4C9 RNA was identified as an HIV-1 protein interaction partner involved in viral replication 2.

Sources cited
1
H4C9 missense variants cause neurodevelopmental syndrome; H4 proteins are core nucleosome components supporting DNA replication, transcription, and repair
PMID: 35202563
2
H4C9 RNA interacts with HIV-1 proteins and is involved in HIV-1 replication
PMID: 39122863
⚠Limited data available β€” This gene has 2 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 2Open Targets
0.48Moderate
Tessadori-Van Haaften neurodevelopmental syndrome 3Open Targets
0.46Moderate
cancerOpen Targets
0.38Weak
melanomaOpen Targets
0.37Weak
breast carcinomaOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
posterior cortical atrophyOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.04Suggestive
acute respiratory distress syndromeOpen Targets
0.03Suggestive
malignant hyperthermia, susceptibility to, 1Open Targets
0.03Suggestive
cerebral creatine deficiency syndromeOpen Targets
0.03Suggestive
lung cancerOpen Targets
0.02Suggestive
Ovarian EndometriosisOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
acute lymphoblastic leukemiaOpen Targets
0.02Suggestive
cystOpen Targets
0.02Suggestive
Pathogenic Variants2
NM_003495.3(H4C9):c.122G>T (p.Arg41Leu)Pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 4
β˜†β˜†β˜†β˜†2023β†’ Residue 41
NM_003495.3(H4C9):c.227A>G (p.His76Arg)Pathogenic
Tessadori-Van Haaften neurodevelopmental syndrome 4
β˜†β˜†β˜†β˜†2023β†’ Residue 76
View on ClinVar β†—
Related Genes
H2BC17Protein interaction100%H2BC12Protein interaction100%H2BC14Protein interaction100%H2BC11Protein interaction99%H3C12Protein interaction99%H2AC4Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Liver
63%
Ovary
18%
Lung
14%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
H4C9H2BC17H2BC12H2BC14H2BC11H3C12H2AC4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P62805
View on AlphaFold β†—
RankingsWhere H4C9 stands among ~20K protein-coding genes
  • #2,753of 20,598
    Most Researched163 Β· top quartile
  • #4,263of 5,498
    Most Pathogenic Variants2
Genes detectedH4C9
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
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
Interactome of the HIV-1 proteome and human host RNA.
PMID: 39122863
EMBO Rep Β· 2024
0.50