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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.
H3C3
H3 clustered histone 3
Chromosome 6 Β· 6p22.2
NCBI Gene: 8352Ensembl: ENSG00000197153.5HGNC: HGNC:4766UniProt: P68431
101PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Swiss-Prot Reviewed
viral diseaseinfectious diseasegliomabreast carcinoma
✦AI Summary

Based on limited published evidence, H3C3 is a core histone protein component of nucleosomes that regulates DNA accessibility and plays central roles in transcription, DNA repair, replication, and chr6 stability through post-translational modifications and nucleosome remodeling. H3C3 on chromosome 6 was identified as a key driver gene in a histone gene cluster module inversely associated with brain amyloid burden in preclinical Alzheimer's disease 1. H3C3 mutations (K27M and G34R) define pediatric diffuse midline gliomas, with K27M mutations showing dominance in molecular and clinical profiles 2.

Sources cited
1
H3C3 identified as key gene in chromosome 6 histone cluster associated with lower brain amyloid deposition in preclinical AD
PMID: 41416491
2
H3C3 mutations (H3.1 K27M and G34R) define pediatric diffuse midline gliomas, with K27M mutation showing molecular and clinical dominance
PMID: 39815339
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
viral diseaseOpen Targets
0.51Moderate
infectious diseaseOpen Targets
0.51Moderate
gliomaOpen Targets
0.50Moderate
breast carcinomaOpen Targets
0.44Moderate
melanomaOpen Targets
0.44Moderate
diffuse large B-cell lymphomaOpen Targets
0.40Moderate
cancerOpen Targets
0.38Weak
dengue diseaseOpen Targets
0.37Weak
anaplastic astrocytomaOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
brain gliomaOpen Targets
0.37Weak
Brain Stem GlioblastomaOpen Targets
0.37Weak
lobular breast carcinomaOpen Targets
0.37Weak
squamous cell lung carcinomaOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.30Weak
acute myeloid leukemiaOpen Targets
0.28Weak
non-small cell lung carcinomaOpen Targets
0.28Weak
adrenal cortex carcinomaOpen Targets
0.28Weak
lung carcinomaOpen Targets
0.28Weak
GliomaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
H3C13Protein interaction100%H2BC12Protein interaction100%KAT2BProtein interaction100%H2AZ2Protein interaction100%H2BC11Protein interaction99%KDM4AProtein interaction99%
Tissue Expression4 tissues
Lung
0%
Liver
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
H3C3H3C13H2BC12KAT2BH2AZ2H2BC11KDM4A
PROTEIN STRUCTURE
Preparing viewer…
PDB5SVY Β· 1.05 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.79 [1.10–1.96]
RankingsWhere H3C3 stands among ~20K protein-coding genes
  • #4,719of 20,598
    Most Researched101 Β· top quartile
  • #17,742of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedH3C3
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Blood gene expression network expression strongly relates to brain amyloid burden.
PMID: 41416491
Alzheimers Dement Β· 2025
1.00
2
An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene.
PMID: 39815339
Acta Neuropathol Commun Β· 2025
0.50