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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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H3C2
H3 clustered histone 2
Chromosome 6 · 6p22.2
NCBI Gene: 8358Ensembl: ENSG00000197153.5HGNC: HGNC:4766UniProt: P68431
129PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Swiss-Prot Reviewed
viral diseaseinfectious diseasegliomabreast carcinoma
✦AI Summary

H3C2 (H3 clustered histone 2) encodes a core histone protein involved in chr6 structure and gene regulation. As a member of the histone H3 family, H3C2 serves as a substrate for epigenetic modifications, particularly at lysine 27, which plays a critical role in DNA replication regulation 1. In normal physiology, H3C2 expression correlates with metabolic pathways in adipose tissue, with baseline expression predicting weight loss response to lifestyle intervention in women with polycystic ovary syndrome 2. Clinically, H3C2 mutations have emerged as significant disease drivers. H3K27M mutations in H3C2 occur in diffuse midline gliomas (DMGs), an aggressive pediatric brain malignancy, where they associate with worse prognosis and represent a validated biomarker for liquid biopsy monitoring via cerebrospinal fluid and plasma cell-free DNA 3. H3C2 is upregulated in sinonasal undifferentiated carcinoma (SNUC) alongside EZH2, implicating epigenetic dysregulation in tumorigenesis 4. In pediatric pontine high-grade gliomas, H3C2/3 K27M mutations correlate with improved overall survival compared to H3-3A mutations and show distinct magnetic resonance imaging characteristics 5. Additionally, paratesticular rhabdomyomas harbor recurrent H3C2 p.K37I mutations affecting conserved lysine residues 1, and H3C2 mutations associate with poor survival in TMB-low metastatic cancers treated with immune checkpoint inhibitors 6.

Sources cited
1
H3C2 K27M mutations occur in diffuse midline glioma and are associated with worse prognosis; H3K27M represents a biomarker detectable in CSF and blood for monitoring DMG
PMID: 38096156
2
H3C2 is upregulated in sinonasal undifferentiated carcinoma tumor cells alongside EZH2, contributing to epigenetic mechanisms in tumorigenesis
PMID: 39565059
3
H3C2/3 K27M-mutant pediatric pontine high-grade gliomas show higher overall survival than H3-3A mutations and distinct ADC histogram MRI characteristics
PMID: 37321859
4
H3C2 p.K37I is a recurrent mutation in paratesticular rhabdomyomas affecting conserved lysine residues important for epigenetic modifications and DNA replication
PMID: 35842480
5
H3C2 expression in baseline adipose tissue correlates with weight change in response to lifestyle intervention in obese/overweight women with PCOS
PMID: 39519120
6
H3C2 mutations are associated with poorer overall survival in TMB-low metastatic cancer patients treated with immune checkpoint inhibitors
PMID: 40285678
Disease Associationsⓘ20
viral diseaseOpen Targets
0.51Moderate
infectious diseaseOpen Targets
0.51Moderate
gliomaOpen Targets
0.47Moderate
breast carcinomaOpen Targets
0.38Weak
cancerOpen Targets
0.38Weak
melanomaOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
SepsisOpen Targets
0.06Suggestive
nasopharyngeal carcinomaOpen Targets
0.06Suggestive
cervical cancerOpen Targets
0.05Suggestive
COVID-19Open Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.03Suggestive
obstructive sleep apneaOpen Targets
0.03Suggestive
diffuse midline gliomaOpen Targets
0.03Suggestive
renal cell carcinomaOpen Targets
0.03Suggestive
type 1 diabetes mellitusOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3C12Protein interaction100%H3C13Protein interaction100%H2BC12Protein interaction100%KAT2BProtein interaction100%H2AZ2Protein interaction100%H2BC11Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Brain
86%
Bone Marrow
79%
Liver
54%
Ovary
41%
Heart
12%
Gene Interaction Network
Click a node to explore
H3C2H3C12H3C13H2BC12KAT2BH2AZ2H2BC11
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P68431
View on AlphaFold ↗
RankingsWhere H3C2 stands among ~20K protein-coding genes
  • #3,623of 20,598
    Most Researched129 · top quartile
Genes detectedH3C2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Liquid biopsy in H3K27M diffuse midline glioma.
PMID: 38096156
Neuro Oncol · 2024
1.00
2
Epigenetic and Immune Profile Characteristics in Sinonasal Undifferentiated Carcinoma.
PMID: 39565059
Cancer Med · 2024
0.90
3
Correlation between Multiparametric MR Imaging and Molecular Genetics in Pontine Pediatric High-Grade Glioma.
PMID: 37321859
AJNR Am J Neuroradiol · 2023
0.80
4
MYB::QKI fusion-positive diffuse glioma of the cerebellum: A case report.
PMID: 39569742
Neuropathology · 2025
0.70
5
Weight Changes Are Linked to Adipose Tissue Genes in Overweight Women with Polycystic Ovary Syndrome.
PMID: 39519120
Int J Mol Sci · 2024
0.60