H2BC18: H2B Clustered Histone 18
A replication-dependent histone gene encoding the H2B core histone protein, essential for nucleosome structure and chromatin regulation.
Gene Information Card
| Symbol | H2BC18 |
|---|---|
| Full Name | H2B Clustered Histone 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000197903 |
| UniProt ID | O60814 |
| OMIM ID | 602815 |
| HGNC ID | 4747 |
| Aliases | HIST1H2BK, H2B K, H2BFA, H2BFT, H2B/S, H2B.1 |
Description
H2BC18 (H2B Clustered Histone 18) 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. H2B histones are essential for DNA packaging into chromatin and play critical roles in transcription regulation, DNA repair, replication, and chromosomal stability. The protein undergoes various post-translational modifications, including acetylation, methylation, and ubiquitination, which modulate chromatin dynamics and gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered H2B expression and post-translational modifications contribute to chromatin remodeling and oncogene activation. | COSMIC; PMID: 25657328 |
| Neurodevelopmental disorders | Mutations in histone genes, including H2B, can disrupt chromatin structure and gene regulation during brain development. | ClinVar; PMID: 31036917 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 32.8 | High |
| Lymph node | 28.1 | High |
| Spleen | 25.6 | High |
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 62.5 | Leukemia cell line; high expression |
| HeLa | 55.3 | Cervical carcinoma; high expression |
| HEK293 | 48.1 | Embryonic kidney; high expression |
| HepG2 | 35.4 | Hepatocellular carcinoma; moderate 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; potential loss of function (ClinVar) |
| c.214G>A (p.Glu72Lys) | missense | <0.01% | Substitution in histone fold domain; functional impact uncertain (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in H2BC18 are rare and may impair nucleosome assembly, leading to chromatin instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported for H2BC18.
Dominant Negative (DN)
Dominant-negative effects have not been described for H2BC18.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • DNA repair (GO:0006281) | • protein heterodimerization activity (GO:0046982) |
| • DNA binding (GO:0003677) |
Pathways
• Formation of the nucleosome (R-HSA-774177)
• Chromatin organization (R-HSA-4839726)
• Packaging of telomere ends (R-HSA-171306)
Protein Summary
Histone H2B type 1-K (UniProt O60814) is a 126-amino acid core histone protein that forms the nucleosome by dimerizing with H2A and associating with H3/H4 tetramers. It contains a conserved histone fold domain and an N-terminal tail subject to acetylation, methylation, and ubiquitination. H2B ubiquitination (e.g., at Lys120) is a key mark for transcriptional activation and DNA damage response. The protein is highly basic and interacts with DNA to compact chromatin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC18 Knockout HEK293 Cell Line | EDJ-KQ13709 | Human | 440689 | Details Get a Quote |
| H2BC18 Knockout A-549 Cell Line | EDJ-KQ43440 | Human | 440689 | Details Get a Quote |
| H2BC18 Knockout HeLa Cell Line | EDJ-KQ43441 | Human | 440689 | Details Get a Quote |
| H2BC18 Knockout HCT 116 Cell Line | EDJ-KQ77230 | Human | 440689 | Details Get a Quote |
