H2BC14
H2B Clustered Histone 14
Gene Information Card
| Symbol | H2BC14 |
|---|---|
| Full Name | H2B clustered histone 14 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8346 ncbi.nlm.nih.gov/gene/8346 |
| Ensembl ID | ENSG00000124529 |
| UniProt ID | P62807 |
| OMIM ID | 602807 |
| HGNC ID | 4744 |
| Aliases | H2B/g, H2BGL105, H2B.1B, HIST1H2BK |
Description
H2BC14 encodes a member of the histone H2B family, a core component of the nucleosome. Histones are basic nuclear proteins responsible for nucleosome structure, chromatin packaging, and regulation of gene expression. H2BC14 is part of the histone cluster on chromosome 6p22.1 and is expressed in a variety of tissues. Post-translational modifications of H2B, such as ubiquitination and acetylation, play critical roles in transcription activation, DNA repair, and cell cycle progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone modification patterns; dysregulation of H2B ubiquitination linked to tumor progression | COSMIC; literature review |
| Neurodevelopmental disorders | Mutations in histone genes can affect chromatin remodeling and neuronal gene expression | ClinVar; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | Medium |
| Bone marrow | 18.7 | Medium |
| Lymph node | 15.2 | Medium |
| Spleen | 14.8 | Medium |
| Brain | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 22.1 | Leukemia cell line |
| HeLa | 19.4 | Cervical cancer cell line |
| HEK293 | 17.6 | Embryonic kidney cells |
| HepG2 | 16.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.214G>A (p.Glu72Lys) | missense | <0.01% | May affect histone modification sites |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
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
Histone H2B type 1-K is a 126-amino acid core histone protein that forms the nucleosome by wrapping DNA. It undergoes various post-translational modifications including ubiquitination at Lys120, which is essential for transcription elongation and DNA damage response. The protein is highly conserved and ubiquitously expressed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2BC14 Knockout HEK293 Cell Line | EDJ-KQ6201 | Human | 8342 | Details Get a Quote |
| H2BC14 Knockout HeLa Cell Line | EDJ-KQ54866 | Human | 8342 | Details Get a Quote |
| H2BC14 Knockout A-549 Cell Line | EDJ-KQ63353 | Human | 8342 | Details Get a Quote |
| H2BC14 Knockout HCT 116 Cell Line | EDJ-KQ71822 | Human | 8342 | Details Get a Quote |
