H2BC13 (H2B Clustered Histone 13): A Core Histone Gene in Chromatin Regulation
Explore the genomic context, expression patterns, and clinical relevance of H2BC13, a replication-dependent histone H2B family member.
Gene Information Card
| Symbol | H2BC13 |
|---|---|
| Full Name | H2B clustered histone 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8348 ncbi.nlm.nih.gov/gene/8348 |
| Ensembl ID | ENSG00000203826 |
| UniProt ID | P06899 |
| OMIM ID | 602842 |
| HGNC ID | 4762 |
| Aliases | HIST1H2BJ, H2B/J, H2Bjr |
Description
H2BC13 (H2B clustered histone 13) is a histone H2B family member encoded by a gene located in the histone cluster 1 on chromosome 6p22.1. Histones are basic nuclear proteins responsible for nucleosome structure and chromatin organization. H2BC13 is a replication-dependent histone, expressed predominantly during S-phase, and its expression is tightly linked to DNA synthesis. The protein contains a conserved histone-fold domain that mediates DNA binding and histone octamer assembly. H2BC13 plays a critical role in transcriptional regulation, DNA repair, and chromosome stability. Alterations in histone gene expression, including H2BC13, have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression of histone genes, including H2BC13, can disrupt chromatin structure and gene regulation, contributing to tumorigenesis. | Expression data from TCGA and COSMIC show dysregulation in multiple tumor types. |
| Immunodeficiency (potential) | Histone genes are essential for immune cell proliferation; defects may impair lymphocyte development. | Inferred from functional studies of histone genes; not directly established for H2BC13. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | High (e.g., >50 nTPM) | High expression in proliferative tissues |
| Testis | Moderate | Germ cell proliferation |
| Lymph node | Moderate | Immune cell turnover |
| Brain | Low | Low proliferation rate |
| Liver | Low | Low proliferation rate |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | High | Myelogenous leukemia cell line; high histone expression |
| HeLa (cervical cancer) | High | Rapidly dividing cells |
| A549 (lung cancer) | Moderate | Proliferative cancer cell line |
| MCF7 (breast cancer) | Moderate | Hormone-responsive cancer cell line |
| HUVEC (endothelial) | Low | Quiescent primary cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon, affecting translation |
| c.100C>T (p.Arg34Trp) | Missense | Rare | May affect histone-fold domain, altering DNA binding |
| c.200A>G (p.Lys67Arg) | Missense | Rare | Potential post-translational modification site change |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in H2BC13 are not well characterized; however, disruption of histone genes can lead to haploinsufficiency, affecting chromatin assembly and gene expression.
Gain of Function (GOF)
No gain-of-function mutations have been reported for H2BC13.
Dominant Negative (DN)
Dominant-negative effects are unlikely for histone genes, as multiple copies exist; however, mutations affecting histone-fold could interfere with nucleosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein heterodimerization activity |
| • nucleosome assembly | • chromatin organization |
| • regulation of transcription by RNA polymerase II | • DNA repair |
| • cell cycle |
Pathways
• Formation of the beta-catenin:TCF transactivating complex
• Chromatin organization
• Packaging of telomere ends
• Senescence-associated secretory phenotype (SASP)
Protein Summary
The H2BC13 protein is a core histone H2B variant that, together with H2A, H3, and H4, forms the nucleosome core. It contains a conserved histone-fold domain that facilitates DNA wrapping and histone octamer assembly. Post-translational modifications, such as acetylation and ubiquitination, regulate chromatin dynamics and gene expression. H2BC13 is highly expressed in proliferating cells and is essential for DNA replication and repair. Its expression is cell-cycle regulated, peaking during S-phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC13 Knockout HEK293 Cell Line | EDJ-KQ50759 | Human | 8340 | Details Get a Quote |
| H2BC13 Knockout HeLa Cell Line | EDJ-KQ54864 | Human | 8340 | Details Get a Quote |
| H2BC13 Knockout A-549 Cell Line | EDJ-KQ63351 | Human | 8340 | Details Get a Quote |
| H2BC13 Knockout HCT 116 Cell Line | EDJ-KQ71820 | Human | 8340 | Details Get a Quote |
