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GeneE
1 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.
H2BW1
H2B.W histone 1
Chromosome X Β· Xq22.2
NCBI Gene: 158983Ensembl: ENSG00000123569.10HGNC: HGNC:27252UniProt: Q7Z2G1
17PubMed Papers
3Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitotic chromosome condensationprotein bindingstructural constituent of chromatinnucleuspancreatic adenocarcinomanon-small cell lung carcinomamale infertility
✦AI Summary

H2BW1 is an atypical histone H2B variant that forms nucleosomes structurally indistinguishable from conventional H2B-containing nucleosomes, regulating DNA accessibility through nucleosome positioning and histone modifications 12. Unlike conventional H2B, H2BW1 does not recruit chromosome X factors or participate in mitotic chromosome X 2. Based on limited published evidence, H2BW1 may be important for telomere function and spermatogenesis 23. Recently, genetic variants near H2BW1 have been associated with Parkinson's disease risk in Latin American populations 4.

Sources cited
1
Histone modifications and nucleosome remodeling regulate DNA accessibility
PMID: 15475252
2
H2BW1 forms normal nucleosomes but lacks chromosome condensation factor recruitment and mitotic chromosome assembly participation; potential role in telomere function and spermatogenesis
PMID: 16449661
3
H2BW1 may play a role in spermatogenesis
PMID: 19583817
4
Genetic variant rs525496 near H2BW1 identified as protective factor for idiopathic Parkinson's disease in Latin American populations
PMID: 40178685
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜3
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
male infertilityOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HDAC4Protein interaction97%HDAC8Protein interaction92%HDAC1Protein interaction89%RNF20Protein interaction86%HDAC2Protein interaction84%H4C7Protein interaction83%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
H2BW1HDAC4HDAC8HDAC1RNF20HDAC2H4C7
PROTEIN STRUCTURE
Preparing viewer…
PDB8JCD Β· 3.14 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.13 [0.68–1.97]
RankingsWhere H2BW1 stands among ~20K protein-coding genes
  • #15,018of 20,598
    Most Researched17
  • #17,769of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedH2BW1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Genetic variants associated with idiopathic Parkinson's disease in Latin America: A systematic review.
PMID: 40178685
Neurogenetics Β· 2025
1.00