H2BC1
H2B Clustered Histone 1
Gene Information Card
| Symbol | H2BC1 |
|---|---|
| Full Name | H2B Clustered Histone 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 255626 ncbi.nlm.nih.gov/gene/255626 |
| Ensembl ID | ENSG00000203812 |
| UniProt ID | P62807 |
| OMIM ID | 602833 |
| HGNC ID | 4741 |
| Aliases | H2B.1, H2B/a, H2BFA, HIST1H2BA |
Description
H2BC1 (H2B Clustered Histone 1) is a protein-coding gene that encodes a member of the histone H2B family. Histones are basic nuclear proteins responsible for nucleosome structure, which packages DNA into chromatin. H2BC1 is part of the histone cluster on chromosome 6p22.1 and is involved in transcriptional regulation, DNA repair, replication, and chromosomal stability. Variants in H2BC1 have been associated with cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone expression and chromatin remodeling | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Disruption of histone function affecting gene regulation | ClinVar lists pathogenic variants associated with syndromic phenotypes |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 8.7 | Low |
| Lymph node | 6.5 | Low |
| Brain | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.1 | Cervical carcinoma cell line |
| K562 | 11.8 | Leukemia cell line |
| HEK293 | 9.4 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.02% | p.Met1Val; potential loss of start codon |
| c.214C>T | nonsense | 0.01% | p.Gln72*; premature truncation |
| c.307G>A | missense | 0.03% | p.Gly103Arg; altered histone fold domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter nucleosome stability.
Dominant Negative (DN)
Not reported for H2BC1.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • DNA binding (GO:0003677) |
| • protein heterodimerization activity (GO:0046982) | • chromatin organization (GO:0006325) |
Pathways
• Formation of the nucleosome (R-HSA-5250913)
• Chromatin modifying enzymes (R-HSA-3247509)
• Packaging Of Telomere Ends (R-HSA-171306)
Protein Summary
H2BC1 encodes histone H2B type 1-A, a core component of the nucleosome. The protein contains a conserved histone fold domain that mediates dimerization with H2A and interaction with DNA. Post-translational modifications, including acetylation and ubiquitination, regulate chromatin dynamics and gene expression. H2BC1 is ubiquitously expressed but shows highest levels in testis and hematopoietic tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC14 Knockout HEK293 Cell Line | EDJ-KQ6201 | Human | 8342 | Details Get a Quote |
| H2BC17 Knockout HEK293 Cell Line | EDJ-KQ6202 | Human | 8348 | Details Get a Quote |
| H2BC12 Knockout HEK293 Cell Line | EDJ-KQ10317 | Human | 85236 | Details Get a Quote |
| H2BC1 Knockout HEK293 Cell Line | EDJ-KQ11804 | Human | 255626 | Details Get a Quote |
| H2BC18 Knockout HEK293 Cell Line | EDJ-KQ13709 | Human | 440689 | Details Get a Quote |
| H2BC17 Knockout HCT 116 Cell Line | EDJ-KQ30038 | Human | 8348 | Details Get a Quote |
| H2BC17 Knockout HeLa Cell Line | EDJ-KQ30039 | Human | 8348 | Details Get a Quote |
| H2BC17 Knockout A-549 Cell Line | EDJ-KQ28732 | Human | 8348 | Details Get a Quote |
| H2BC12 Knockout A-549 Cell Line | EDJ-KQ37614 | Human | 85236 | Details Get a Quote |
| H2BC12 Knockout HCT 116 Cell Line | EDJ-KQ37615 | Human | 85236 | Details Get a Quote |
| H2BC12 Knockout HeLa Cell Line | EDJ-KQ37616 | Human | 85236 | 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 |
| H2BC13 Knockout HEK293 Cell Line | EDJ-KQ50759 | Human | 8340 | Details Get a Quote |
| H2BC15 Knockout HEK293 Cell Line | EDJ-KQ50760 | Human | 8341 | Details Get a Quote |
- 1
- 2
- Next Page »
