H2BC21: H2B Clustered Histone 21
A replication-dependent histone gene encoding the H2B core histone protein, essential for nucleosome assembly and chromatin structure.
Gene Information Card
| Symbol | H2BC21 |
|---|---|
| Full Name | H2B Clustered Histone 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 85236 ncbi.nlm.nih.gov/gene/85236 |
| Ensembl ID | ENSG00000187758 |
| UniProt ID | O60814 |
| OMIM ID | 602807 |
| HGNC ID | 4744 |
| Aliases | HIST1H2BK, H2B K, H2BFAIII, H2B/S, H2BC21 |
Description
H2BC21 (H2B Clustered Histone 21) is a replication-dependent histone gene located within the histone cluster 1 on chromosome 6p22.1. It encodes the H2B histone family member K, a core component of the nucleosome. The protein contains a conserved histone-fold domain and a C-terminal tail that undergoes post-translational modifications (e.g., acetylation, ubiquitination) regulating chromatin dynamics, transcription, DNA repair, and replication. H2BC21 is expressed in proliferating cells and is essential for proper chromatin packaging.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered histone H2B expression and post-translational modifications contribute to chromatin remodeling and gene expression dysregulation in tumorigenesis. | COSMIC; PMID: 25609010 |
| Immunodeficiency (rare) | Mutations in histone genes, including H2B variants, may impair chromatin assembly and immune cell development. | ClinVar; PMID: 28492532 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 42.3 | High |
| Bone marrow | 28.1 | Medium |
| Lymph node | 25.7 | Medium |
| Spleen | 22.9 | Medium |
| Small intestine | 18.4 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 35.6 | Leukemia cell line; high expression |
| HeLa | 30.2 | Cervical carcinoma; high expression |
| HepG2 | 22.1 | Hepatocellular carcinoma; medium expression |
| A549 | 18.9 | Lung carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | Alters histone-fold domain; potential dominant-negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or histone-fold domain may disrupt nucleosome assembly, leading to chromatin instability.
Gain of Function (GOF)
Not documented for H2BC21.
Dominant Negative (DN)
Missense mutations in the histone-fold domain could interfere with nucleosome formation, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • chromatin organization |
| • DNA binding | • protein heterodimerization activity |
| • nucleus |
Pathways
• Chromatin organization
• Packaging of telomere ends
• Nucleosome assembly
Protein Summary
H2BC21 encodes histone H2B type 1-K, a 126-amino acid core histone protein. It contains a central histone-fold domain that mediates dimerization with H2A and interaction with H3/H4 tetramers. The N-terminal tail is subject to acetylation (e.g., Lys5, Lys12, Lys15, Lys20) and ubiquitination (Lys120), which regulate transcription elongation and DNA damage response. The protein is highly conserved and expressed in actively dividing cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC21 Knockout HEK293 Cell Line | EDJ-KQ2198 | Human | 8349 | Details Get a Quote |
| H2BC21 Knockout A-549 Cell Line | EDJ-KQ22435 | Human | 8349 | Details Get a Quote |
| H2BC21 Knockout HeLa Cell Line | EDJ-KQ22436 | Human | 8349 | Details Get a Quote |
| H2BC21 Knockout HCT 116 Cell Line | EDJ-KQ71825 | Human | 8349 | Details Get a Quote |
