H4C3: Histone H4 Clustered Member 3
A core histone gene encoding histone H4, essential for nucleosome assembly and chromatin structure.
Gene Information Card
| Symbol | H4C3 |
|---|---|
| Full Name | H4 clustered histone 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8364 ncbi.nlm.nih.gov/gene/8364 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | P62805 |
| OMIM ID | 602830 |
| HGNC ID | 4781 |
| Aliases | H4/n, H4F2, H4FN, HIST1H4C, H4C3 |
Description
H4C3 is a member of the histone H4 gene family, which encodes a core histone protein that forms the nucleosome core particle together with histones H2A, H2B, and H3. Histone H4 is highly conserved and plays a critical role in chromatin packaging, gene regulation, DNA replication, and repair. The H4C3 gene is located in the histone gene cluster on chromosome 6p22.1 and is expressed in a replication-dependent manner during S phase.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone H4 expression and post-translational modifications contribute to chromatin dysregulation and oncogenesis. | COSMIC; literature |
| Immunodeficiency | Mutations in histone H4 genes can affect immune cell development and function. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 35.1 | High |
| Lymph node | 30.5 | High |
| Spleen | 28.9 | 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 cancer cell line; high expression |
| HEK293 | 40.1 | Embryonic kidney cell line; moderate expression |
| HepG2 | 35.8 | Liver cancer cell line; 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% | Potential loss of start codon; likely loss-of-function |
| c.214G>A (p.Gly72Arg) | missense | <0.01% | May affect nucleosome stability |
| c.307C>T (p.Arg103Cys) | missense | <0.01% | Reported in cancer samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons are predicted to cause loss of function, reducing histone H4 availability and impairing nucleosome assembly.
Gain of Function (GOF)
No well-characterized gain-of-function mutations have been reported for H4C3.
Dominant Negative (DN)
Missense mutations in the histone fold domain may interfere with nucleosome assembly and exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • DNA replication-dependent nucleosome assembly (GO:0006335) | • protein heterodimerization activity (GO:0046982) |
| • DNA binding (GO:0003677) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Nucleosome assembly (Reactome: R-HSA-774815)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
Protein Summary
Histone H4 is a 103-amino acid core histone protein that, together with histones H2A, H2B, and H3, forms the nucleosome octamer. The N-terminal tail of H4 is subject to various post-translational modifications (e.g., acetylation, methylation) that regulate chromatin structure and gene expression. H4C3 encodes the canonical histone H4.1 isoform, which is expressed in a replication-dependent manner and incorporated into newly synthesized chromatin during S phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C3 Knockout HEK293 Cell Line | EDJ-KQ2692 | Human | 8364 | Details Get a Quote |
| H4C3 Knockout HCT 116 Cell Line | EDJ-KQ22140 | Human | 8364 | Details Get a Quote |
| H4C3 Knockout A-549 Cell Line | EDJ-KQ23514 | Human | 8364 | Details Get a Quote |
| H4C3 Knockout HeLa Cell Line | EDJ-KQ23516 | Human | 8364 | Details Get a Quote |
