H4C5: Histone H4 Cluster Member 5
A core histone gene encoding histone H4, essential for nucleosome assembly and chromatin structure.
Gene Information Card
| Symbol | H4C5 |
|---|---|
| Full Name | H4 clustered histone 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8367 ncbi.nlm.nih.gov/gene/8367 |
| Ensembl ID | ENSG00000274641 |
| UniProt ID | P62805 |
| OMIM ID | 602833 |
| HGNC ID | 4781 |
| Aliases | HIST1H4E, H4 histone family member E |
Description
H4C5 is a member of the histone H4 gene family, located in the histone cluster 1 on chromosome 6. It encodes a core histone protein that, together with histones H2A, H2B, and H3, forms the nucleosome, the fundamental unit of chromatin. Histone H4 is highly conserved and plays a critical role in DNA packaging, gene regulation, and epigenetic modifications.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered histone H4 expression and post-translational modifications contribute to chromatin dysregulation and oncogenesis. | COSMIC, ClinVar |
| Immunodeficiency | Mutations in histone H4 genes can impair chromatin remodeling required for immune cell development. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 35.1 | High |
| Lymph node | 30.5 | High |
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 52.4 | Leukemia cell line |
| HeLa | 45.1 | Cervical cancer cell line |
| HEK293 | 38.6 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Likely benign |
| c.94G>A | missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well documented; complete loss of H4C5 may be compensated by other H4 genes.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • protein heterodimerization activity (GO:0046982) |
| • DNA binding (GO:0003677) | • chromatin organization (GO:0006325) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
Protein Summary
Histone H4 is a 103-amino-acid protein that forms a dimer with histone H3, which then assembles into the nucleosome core particle. It is subject to various post-translational modifications, including acetylation, methylation, and phosphorylation, which regulate chromatin dynamics and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C5 Knockout HEK293 Cell Line | EDJ-KQ5507 | Human | 8367 | Details Get a Quote |
| H4C5 Knockout HeLa Cell Line | EDJ-KQ30055 | Human | 8367 | Details Get a Quote |
| H4C5 Knockout A-549 Cell Line | EDJ-KQ63373 | Human | 8367 | Details Get a Quote |
| H4C5 Knockout HCT 116 Cell Line | EDJ-KQ71842 | Human | 8367 | Details Get a Quote |
