H2BC1 Gene

Name H2B clustered histone 1
Description Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Summary
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Such structural modifications facilitate the extensive chromatin remodeling required for the histone‐to‐protamine transition during spermiogenesis, thereby ensuring proper sperm nuclear condensation and subsequent embryonic gene regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Structural studies further demonstrate that nucleosomes containing this H2B variant show reduced stability and fewer histone–DNA contacts, features that likely underpin its role in facilitating a more open chromatin configuration. This unique configuration appears to assist not only in the efficient removal of canonical histones during sperm maturation but also in establishing a chromatin landscape poised for gene expression in early embryogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, genome‐wide localization studies reveal that this H2B variant is enriched at promoters and gene bodies of loci involved in spermatogenesis, sperm function, and early embryo development. Its presence appears to be essential for correct chromatin-based regulatory events, as loss or misregulation of this variant is associated with defective cohesin release, abnormal histone replacement, and even male infertility in murine models."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Finally, analyses of the transcriptional regulation of the testis‐specific H2B gene indicate that, despite harboring S‐phase–dependent regulatory elements in its promoter, its expression in pachytene spermatocytes is uncoupled from DNA replication. This unique regulation underscores its specialized function during meiotic and postmeiotic stages of spermatogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "10"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jérôme Govin, Emmanuelle Escoffier, Sophie Rousseaux, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Pericentric heterochromatin reprogramming by new histone variants during mouse spermiogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200604141"}], "href": "https://doi.org/10.1083/jcb.200604141"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17261847"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17261847"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Emilie Montellier, Fayçal Boussouar, Sophie Rousseaux, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chromatin-to-nucleoprotamine transition is controlled by the histone H2B variant TH2B."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Dev (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1101/gad.220095.113"}], "href": "https://doi.org/10.1101/gad.220095.113"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23884607"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23884607"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Toshie Shinagawa, Linh My Huynh, Tsuyoshi Takagi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of Th2a and Th2b genes causes defects in spermatogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Development (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1242/dev.121830"}], "href": "https://doi.org/10.1242/dev.121830"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25742800"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25742800"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Andra Li, Allison H Maffey, Wade D Abbott, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of nucleosomes consisting of the human testis/sperm-specific histone H2B variant (hTSH2B)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi048061n"}], "href": "https://doi.org/10.1021/bi048061n"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15709765"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15709765"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Sivaraman Padavattan, Toshie Shinagawa, Kazuya Hasegawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural and functional analyses of nucleosome complexes with mouse histone variants TH2a and TH2b, involved in reprogramming."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2015.07.070"}], "href": "https://doi.org/10.1016/j.bbrc.2015.07.070"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26188507"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26188507"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Aniket Patankar, Rahul Gajbhiye, Suchitra Surve, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Epigenetic landscape of testis specific histone H2B variant and its influence on sperm function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Epigenetics (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13148-021-01088-4"}], "href": "https://doi.org/10.1186/s13148-021-01088-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33933143"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33933143"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "My-Thanh Beedle, Traci Topping, Cathryn Hogarth, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential localization of histone variant TH2B during the first round compared with subsequent rounds of spermatogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Dyn (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/dvdy.33"}], "href": "https://doi.org/10.1002/dvdy.33"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30939211"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30939211"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "N E Huh, I W Hwang, K Lim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Presence of a bi-directional S phase-specific transcription regulatory element in the promoter shared by testis-specific TH2A and TH2B histone genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (1991)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/19.1.93"}], "href": "https://doi.org/10.1093/nar/19.1.93"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "2011515"}], "href": "https://pubmed.ncbi.nlm.nih.gov/2011515"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "I W Hwang, K Lim, C B Chae "}, {"type": "b", "children": [{"type": "t", "text": "Characterization of the S-phase-specific transcription regulatory elements in a DNA replication-independent testis-specific H2B (TH2B) histone gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (1990)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/mcb.10.2.585-592.1990"}], "href": "https://doi.org/10.1128/mcb.10.2.585-592.1990"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "2300056"}], "href": "https://pubmed.ncbi.nlm.nih.gov/2300056"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "I Hwang, C B Chae "}, {"type": "b", "children": [{"type": "t", "text": "S-phase-specific transcription regulatory elements are present in a replication-independent testis-specific H2B histone gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biol (1989)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1128/mcb.9.3.1005-1013.1989"}], "href": "https://doi.org/10.1128/mcb.9.3.1005-1013.1989"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "2725487"}], "href": "https://pubmed.ncbi.nlm.nih.gov/2725487"}]}]}]}
NCBI Gene ID 255626
API
Download Associations
Predicted Functions View H2BC1's ARCHS4 Predicted Functions.
Co-expressed Genes View H2BC1's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View H2BC1's ARCHS4 Predicted Functions.

Functional Associations

H2BC1 has 1,464 functional associations with biological entities spanning 6 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 27 datasets.

Click the + buttons to view associations for H2BC1 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of H2BC1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CCLE Cell Line Proteomics Cell lines associated with H2BC1 protein from the CCLE Cell Line Proteomics dataset.
CellMarker Gene-Cell Type Associations cell types associated with H2BC1 gene from the CellMarker Gene-Cell Type Associations dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing H2BC1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with H2BC1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by H2BC1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with H2BC1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with H2BC1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with H2BC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with H2BC1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GO Biological Process Annotations 2023 biological processes involving H2BC1 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving H2BC1 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing H2BC1 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing H2BC1 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of H2BC1 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of H2BC1 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with H2BC1 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of H2BC1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of H2BC1 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
KEGG Pathways 2026 pathways involving H2BC1 protein from the KEGG Pathways 2026 dataset.
Reactome Pathways 2024 pathways involving H2BC1 protein from the Reactome Pathways 2024 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of H2BC1 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of H2BC1 gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of H2BC1 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of H2BC1 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with H2BC1 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2024 pathways involving H2BC1 protein from the WikiPathways Pathways 2024 dataset.