H4C15
H4 clustered histone 15
Gene Information Card
| Symbol | H4C15 |
|---|---|
| Full Name | H4 clustered histone 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8362 ncbi.nlm.nih.gov/gene/8362 |
| Ensembl ID | ENSG00000276903 |
| UniProt ID | P62805 |
| OMIM ID | 602831 |
| HGNC ID | 4794 |
| Aliases | H4/j, H4FJ, HIST1H4J |
Description
H4C15 is a member of the histone H4 family, which encodes a core histone protein that forms the nucleosome structure. Histone H4 is essential for chromatin packaging and regulation of gene expression through post-translational modifications. H4C15 is one of several replication-dependent histone genes clustered on chromosome 6p22.2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone H4 expression and post-translational modifications (e.g., acetylation, methylation) can disrupt chromatin structure and gene regulation, contributing to oncogenesis. | COSMIC; ClinVar |
| Immunodeficiency | Mutations in histone H4 genes have been linked to immune system dysfunction, though specific H4C15 variants are rare. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 120.5 | High |
| Bone marrow | 85.3 | Medium |
| Lymph node | 72.1 | Medium |
| Brain | 45.6 | Low |
| Liver | 38.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 150.2 | Cervical cancer cell line |
| K562 | 130.8 | Leukemia cell line |
| A549 | 95.4 | Lung cancer cell line |
| HEK293 | 88.7 | Embryonic kidney 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, likely loss of function |
| c.100G>A (p.Gly34Arg) | missense | 0.005% | Alters histone fold domain, may affect nucleosome stability |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or critical residues in the histone fold domain are predicted to cause loss of function.
Gain of Function (GOF)
No known gain-of-function mutations for H4C15.
Dominant Negative (DN)
Mutations that disrupt nucleosome assembly without complete loss of protein may act in a dominant-negative manner.
View complete mutation data:
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • DNA binding (GO:0003677) | • protein heterodimerization activity (GO:0046982) |
| • nucleus (GO:0005634) |
Pathways
• Chromatin organization
• Epigenetic regulation of gene expression
Protein Summary
Histone H4 is a highly conserved core histone protein that, together with histone H3, H2A, and H2B, forms the nucleosome octamer. H4C15 encodes a replication-dependent histone H4 variant. Post-translational modifications of H4, such as acetylation at lysine residues, regulate chromatin accessibility and gene transcription. H4C15 is expressed in proliferating cells and is essential for proper cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C15 Knockout HEK293 Cell Line | EDJ-KQ13720 | Human | 554313 | Details Get a Quote |
| H4C15 Knockout A-549 Cell Line | EDJ-KQ43459 | Human | 554313 | Details Get a Quote |
| H4C15 Knockout HeLa Cell Line | EDJ-KQ43460 | Human | 554313 | Details Get a Quote |
| H4C15 Knockout HCT 116 Cell Line | EDJ-KQ77334 | Human | 554313 | Details Get a Quote |