H4C13: Histone H4 Cluster 13
A core histone gene encoding histone H4, essential for nucleosome assembly and chromatin structure.
Gene Information Card
| Symbol | H4C13 |
|---|---|
| Full Name | H4 clustered histone 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8363 ncbi.nlm.nih.gov/gene/8363 |
| Ensembl ID | ENSG00000276180 |
| UniProt ID | P62805 |
| OMIM ID | 602831 |
| HGNC ID | 4782 |
| Aliases | H4/i, H4C1, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, H4C11, H4C12, H4C14, H4C15, HIST1H4I |
Description
H4C13 is one of the replication-dependent histone H4 genes clustered on chromosome 6p22.1. It encodes histone H4, a core histone protein that, together with histones H2A, H2B, and H3, forms the nucleosome octamer. Histone H4 is highly conserved and plays a fundamental role in chromatin packaging, gene regulation, DNA repair, and chromosome segregation. Post-translational modifications of H4, such as acetylation and methylation, are critical for epigenetic regulation.
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, ClinVar |
| Immunodeficiency | Mutations in histone H4 genes can impair chromatin remodeling required for immune cell development. | OMIM |
| Neurodevelopmental disorders | Disruption of histone H4 expression may affect neuronal gene expression programs. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | High |
| Lymph node | 11.8 | High |
| Testis | 10.2 | High |
| Spleen | 9.7 | High |
| Brain | 4.3 | Medium |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical) | 14.8 | High expression |
| HEK293 (embryonic kidney) | 13.5 | High expression |
| HepG2 (liver) | 8.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.98G>A (p.Gly33Asp) | Missense | <0.01% | Alters histone fold domain; potential dominant negative |
| c.205C>T (p.Arg69Cys) | Missense | <0.01% | Impairs nucleosome assembly; loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the histone fold domain or prevent proper nucleosome assembly, such as p.Met1Val and p.Arg69Cys.
Gain of Function (GOF)
Not well documented for H4C13; gain-of-function mutations are rare in core histones.
Dominant Negative (DN)
Mutations like p.Gly33Asp may interfere with nucleosome formation by producing defective H4 that incorporates into chromatin.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • nucleosome assembly |
| • chromatin organization | • protein heterodimerization activity |
| • nucleus |
Pathways
• Chromatin organization
• Nucleosome assembly
• Epigenetic regulation of gene expression
Protein Summary
Histone H4 is a 103-amino acid protein that forms the core of the nucleosome. It interacts with histone H3 to form an H3-H4 dimer, which then tetramerizes to create the nucleosome scaffold. H4 is subject to extensive post-translational modifications, including acetylation at lysine residues (e.g., K5, K8, K12, K16) and methylation at arginine residues, which regulate chromatin accessibility and gene expression. The protein is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C13 Knockout HEK293 Cell Line | EDJ-KQ6215 | Human | 8368 | Details Get a Quote |
| H4C13 Knockout HeLa Cell Line | EDJ-KQ54887 | Human | 8368 | Details Get a Quote |
| H4C13 Knockout A-549 Cell Line | EDJ-KQ63374 | Human | 8368 | Details Get a Quote |
| H4C13 Knockout HCT 116 Cell Line | EDJ-KQ71843 | Human | 8368 | Details Get a Quote |
