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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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H2BC1
H2B clustered histone 1
Chromosome 6 · 6p22.2
NCBI Gene: 255626Ensembl: ENSG00000146047.7HGNC: HGNC:18730UniProt: Q96A08
72PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleosome assemblychromosome, telomeric regionnucleosomenucleusinfectious diseaseviral diseasecancermelanoma
✦AI Summary

H2BC1 encodes testis-specific histone 2B (TSH2B), a variant histone that replaces somatic H2B during spermiogenesis to facilitate histone-to-protamine transition in male germ cells 1. As a core nucleosome component, TSH2B regulates chr6 dynamics by promoting nucleosome dissociation, enabling large-scale histone exchange necessary for proper genome condensation 1. In infertile men, reduced TSH2B and total H2B levels are significantly associated with oligozoospermia and oligoasthenozoospermia, indicating defective histone replacement 1. Notably, TSH2B phosphorylation correlates with sperm motility, as asthenozoospermic men show normal TSH2B levels but significantly reduced phosphorylated TSH2B 1. H2BC1 expression is regulated by 5' UTR genetic variants (rs4711096, rs4712959) and promoter methylation; the rs4711096 minor allele frequency is significantly lower in infertile men 12. H2BC1 abundance varies with paternal age, being upregulated in young adults but downregulated in advanced age groups 3. As a diagnostic marker, H2BC1 and related proteins show discriminatory potential for distinguishing azoospermia subtypes 4. These findings establish H2BC1 as essential for male fertility through chr6 compaction and sperm motility regulation.

Sources cited
1
TSH2B replaces somatic H2B during spermiogenesis; reduced TSH2B correlates with oligozoospermia and oligoasthenozoospermia; TSH2B phosphorylation associates with sperm motility; H2BC1 variants identified in infertile men
PMID: 35840050
2
H2BC1 5' UTR variants (rs4711096, rs4712959) positively regulate TSH2B expression; promoter methylation influences H2BC1 expression
PMID: 40146916
3
H2BC1 is upregulated in young adult spermatozoa and downregulated in advanced age groups; age-associated proteomic changes impact male fertility
PMID: 40649876
4
H2BC1 is identified as a potential biomarker with discriminatory power for distinguishing azoospermia types and subtypes in testicular tissue
PMID: 35914715
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
infectious diseaseOpen Targets
0.50Moderate
viral diseaseOpen Targets
0.50Moderate
breast carcinomaOpen Targets
0.37Weak
cancerOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
melanomaOpen Targets
0.37Weak
psoriasisOpen Targets
0.27Weak
dental cariesOpen Targets
0.07Suggestive
angina pectorisOpen Targets
0.07Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
mathematical abilityOpen Targets
0.04Suggestive
response to stimulusOpen Targets
0.04Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
Varicose veinsOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
coronary artery diseaseOpen Targets
0.03Suggestive
gastroesophageal reflux diseaseOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
infertilityOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H3-3BProtein interaction100%H3C12Protein interaction100%H2AC18Protein interaction100%H3-5Protein interaction100%KAT5Protein interaction99%H3C3Protein interaction99%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
H2BC1H3-3BH3C12H2AC18H3-5KAT5H3C3
PROTEIN STRUCTURE
Preparing viewer…
PDB6BIY · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.71LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.88 [0.46–1.71]
RankingsWhere H2BC1 stands among ~20K protein-coding genes
  • #6,547of 20,598
    Most Researched72
  • #16,155of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedH2BC1
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Age-Associated Proteomic Changes in Human Spermatozoa.
PMID: 40649876
Int J Mol Sci · 2025
1.00
2
Proteomic and genetic dissection of testis-specific histone 2B in infertile men reveals its contribution to meiosis and sperm motility.
PMID: 35840050
F S Sci · 2022
0.75
3
Comparative proteomics analysis of human FFPE testicular tissues reveals new candidate biomarkers for distinction among azoospermia types and subtypes.
PMID: 35914715
J Proteomics · 2022
0.50
4
Single nucleotide polymorphism at 5' UTR of H2BC1 and promoter methylation influence TSH2B expression.
PMID: 40146916
Reproduction · 2025
0.25