H2BC15 (H2B Clustered Histone 15): Structure, Function, and Clinical Relevance
A comprehensive guide to the H2BC15 gene, its protein product, expression patterns, associated diseases, and mutations, based on authoritative genomic and proteomic databases.
Gene Information Card
| Symbol | H2BC15 |
|---|---|
| Full Name | H2B clustered histone 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8345 ncbi.nlm.nih.gov/gene/8345 |
| Ensembl ID | ENSG00000197903 |
| UniProt ID | P62807 |
| OMIM ID | 602842 |
| HGNC ID | 4764 |
| Aliases | H2B/n, H2B.1B, H2B1B, HIST1H2BJ |
Description
H2BC15 (H2B clustered histone 15) is a protein-coding gene located on chromosome 6p22.2 within the histone 1 cluster. It encodes a replication-dependent histone H2B family member, which is a core component of the nucleosome. The protein contains a conserved histone-fold domain and a C-terminal domain that is subject to various post-translational modifications, including acetylation, methylation, and ubiquitination. These modifications play critical roles in chromatin structure, gene regulation, DNA repair, and chromosome segregation. H2BC15 is expressed in proliferating cells and is essential for proper chromatin assembly during DNA replication.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations in histone genes, including H2BC15, can disrupt chromatin structure and gene expression, contributing to oncogenesis. | COSMIC database lists somatic mutations in H2BC15 across multiple cancer types; ClinVar also reports variants associated with cancer predisposition. |
| Immunodeficiency | Mutations in histone genes may affect immune cell development and function, though specific evidence for H2BC15 is limited. | ClinVar includes some variants with uncertain significance in immune-related phenotypes. |
| Developmental disorders | Histone mutations can impact embryonic development and organogenesis; H2BC15 variants may contribute to such conditions. | ClinVar lists variants in H2BC15 associated with developmental delay and intellectual disability. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | High | High expression in hematopoietic tissues |
| Lymph node | High | High expression in lymphoid tissues |
| Spleen | High | High expression in spleen |
| Testis | Medium | Moderate expression in testis |
| Brain | Low | Low expression in brain |
| Liver | Low | Low expression in liver |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | High | Chronic myelogenous leukemia cell line; high expression |
| HeLa | High | Cervical adenocarcinoma cell line; high expression |
| A549 | Medium | Lung carcinoma cell line; moderate expression |
| MCF7 | Medium | Breast adenocarcinoma cell line; moderate expression |
| HepG2 | Low | Hepatocellular carcinoma cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly53Asp | Missense | Rare | Potential impact on histone fold stability |
| p.Val45Ala | Missense | Rare | May affect nucleosome assembly |
| c.1-15C>T | 5' UTR | Rare | Potential effect on translation efficiency |
| p.Lys120Met | Missense | Rare | Alters ubiquitination site, affecting gene regulation |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in H2BC15 are rare and may lead to reduced histone protein levels, impairing chromatin assembly and DNA replication, potentially contributing to genomic instability.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented for H2BC15; however, some missense variants could alter histone modifications and chromatin dynamics, potentially promoting aberrant gene expression.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant H2BC15 incorporates into nucleosomes and disrupts chromatin structure or signaling, but specific examples are not well-characterized.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein heterodimerization activity |
| • nucleosomal DNA binding | • chromatin organization |
| • nucleosome assembly | • DNA replication-dependent chromatin assembly |
| • negative regulation of transcription | • positive regulation of transcription |
Pathways
• Formation of the beta-catenin:TCF transactivating complex
• Chromatin organization
• Packaging of telomere ends
• Senescence-associated secretory phenotype (SASP)
• Telomere maintenance
Protein Summary
The H2BC15 protein is a 126-amino acid histone H2B variant that contains a conserved histone-fold domain. It is synthesized during S-phase and incorporated into nucleosomes during DNA replication. Post-translational modifications, such as acetylation at lysine residues and ubiquitination at lysine 120, regulate chromatin accessibility and gene expression. H2BC15 interacts with other histones (H2A, H3, H4) to form the nucleosome core, and its C-terminal tail is exposed on the nucleosome surface, serving as a platform for chromatin-modifying enzymes. The protein is essential for maintaining genomic stability and proper cellular function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC15 Knockout HEK293 Cell Line | EDJ-KQ50760 | Human | 8341 | Details Get a Quote |
| H2BC15 Knockout HeLa Cell Line | EDJ-KQ54865 | Human | 8341 | Details Get a Quote |
| H2BC15 Knockout A-549 Cell Line | EDJ-KQ63352 | Human | 8341 | Details Get a Quote |
| H2BC15 Knockout HCT 116 Cell Line | EDJ-KQ71821 | Human | 8341 | Details Get a Quote |
