H4C14 (H4 Histone, Cluster 4): A Core Histone Gene in Chromatin Regulation
Explore the genomic context, expression, and disease associations of H4C14, a replication-dependent histone H4 gene.
Gene Information Card
| Symbol | H4C14 |
|---|---|
| Full Name | H4 histone, cluster 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.3 |
| NCBI Gene ID | 8362 ncbi.nlm.nih.gov/gene/8362 |
| Ensembl ID | ENSG00000274997 |
| UniProt ID | P62805 |
| OMIM ID | 602827 |
| HGNC ID | 4794 |
| Aliases | H4/j, H4C4, HIST1H4J |
Description
H4C14 (H4 histone, cluster 4) is a replication-dependent histone H4 gene located in the histone cluster 4 on chromosome 12p12.3. It encodes a core histone protein that is essential for nucleosome assembly and chromatin structure. Histone H4 undergoes extensive post-translational modifications, including acetylation and methylation, which regulate gene expression, DNA repair, and chromosome stability. H4C14 is part of a multigene family with multiple copies across the genome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone H4 expression and mutations may disrupt chromatin structure and gene regulation, contributing to tumorigenesis. | COSMIC lists somatic mutations in H4C14 across multiple cancer types, though specific functional impact is not fully characterized. |
| Immunodeficiency | Mutations in histone H4 genes have been linked to immune dysregulation, but direct evidence for H4C14 is limited. | ClinVar does not currently list pathogenic variants for H4C14. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High expression (nTPM ~ 200) | High expression consistent with active cell division. |
| Bone marrow | High expression (nTPM ~ 150) | High expression in proliferating hematopoietic cells. |
| Skin | Moderate expression (nTPM ~ 50) | Moderate expression in dividing keratinocytes. |
| Brain | Low expression (nTPM ~ 5) | Low expression in non-dividing neurons. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High (nTPM ~ 300) | Cervical cancer cell line with active proliferation. |
| K562 | High (nTPM ~ 250) | Chronic myeloid leukemia cell line. |
| MCF7 | Moderate (nTPM ~ 100) | Breast cancer cell line. |
| HUVEC | Low (nTPM ~ 20) | Endothelial cells with low proliferation rate. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (<0.01%) | Potential loss of start codon, leading to truncated protein. |
| c.95G>A (p.Arg32His) | Missense | Somatic (COSMIC) | May affect histone fold domain, altering nucleosome stability. |
| c.200C>T (p.Thr67Ile) | Missense | Somatic (COSMIC) | Located in histone fold, possible impact on protein interactions. |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the start codon or introduce premature stop codons could lead to reduced histone H4 protein levels, impairing nucleosome assembly and chromatin integrity.
Gain of Function (GOF)
No evidence of gain-of-function mutations for H4C14; histone genes typically act as tumor suppressors, and gain-of-function is not documented.
Dominant Negative (DN)
Mutations in the histone fold domain may produce altered histone H4 proteins that incorporate into nucleosomes, potentially disrupting chromatin structure in a dominant-negative manner, though this is speculative.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein heterodimerization activity |
| • nucleosome assembly | • chromatin organization |
| • nucleus |
Pathways
• Packaging Of Telomere Ends
• Chromatin organization
• DNA replication-dependent nucleosome assembly
Protein Summary
Histone H4 is a highly conserved protein that forms the core of the nucleosome, wrapping DNA into chromatin. It interacts with histone H3, H2A, and H2B to form the octamer. Post-translational modifications, such as acetylation at lysine residues (e.g., K16), regulate chromatin structure and gene expression. H4C14 encodes a replication-dependent histone, expressed during S-phase and incorporated into newly synthesized DNA.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C14 Knockout HEK293 Cell Line | EDJ-KQ50784 | Human | 8370 | Details Get a Quote |
| H4C14 Knockout HeLa Cell Line | EDJ-KQ54889 | Human | 8370 | Details Get a Quote |
| H4C14 Knockout A-549 Cell Line | EDJ-KQ63376 | Human | 8370 | Details Get a Quote |
| H4C14 Knockout HCT 116 Cell Line | EDJ-KQ71845 | Human | 8370 | Details Get a Quote |
