H4C11: Histone H4 Cluster Member 11
A replication-dependent histone H4 gene involved in chromatin structure and epigenetic regulation.
Gene Information Card
| Symbol | H4C11 |
|---|---|
| Full Name | H4 histone family member C11 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8363 ncbi.nlm.nih.gov/gene/8363 |
| Ensembl ID | ENSG00000276180 |
| UniProt ID | P62805 |
| OMIM ID | 602833 |
| HGNC ID | 4781 |
| Aliases | H4C11, H4/c, H4FC, HIST1H4C, H4C1, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, H4C10, H4C12, H4C13, H4C14, H4C15 |
Description
H4C11 is a replication-dependent histone H4 gene located within the histone cluster 1 on chromosome 6p22.2. It encodes a core histone protein that forms the nucleosome octamer together with histones H2A, H2B, and H3. Histone H4 is essential for chromatin packaging and plays a key role in epigenetic regulation through post-translational modifications such as acetylation and methylation. Expression of H4C11 is cell-cycle regulated, peaking 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 gene expression changes in tumorigenesis. | COSMIC, ClinVar |
| Immunodeficiency | Mutations in histone H4 genes have been associated with immune system dysfunction in rare cases. | ClinVar |
| Neurodevelopmental disorders | Histone H4 variants may affect chromatin remodeling and neuronal gene expression. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Spleen | 9.2 | Medium |
| Testis | 8.7 | Medium |
| Small intestine | 7.3 | Low |
| Colon | 6.9 | Low |
| Lung | 5.4 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.2 | High expression |
| HeLa (cervical) | 12.8 | High expression |
| HEK293 (embryonic kidney) | 10.5 | Medium expression |
| HepG2 (liver) | 8.1 | Medium expression |
| A549 (lung) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% | Likely loss of start codon; predicted loss of function |
| c.79G>A (p.Gly27Arg) | Missense | <0.1% | Unknown significance; reported in COSMIC |
| c.205C>T (p.Arg69Cys) | Missense | <0.1% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or critical residues in the histone fold domain may impair nucleosome assembly and chromatin compaction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for H4C11.
Dominant Negative (DN)
Missense mutations in the histone fold domain could disrupt nucleosome structure in a dominant-negative manner, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome (GO:0000786) | • DNA binding (GO:0003677) |
| • nucleosome assembly (GO:0006334) | • protein heterodimerization activity (GO:0046982) |
| • nucleus (GO:0005634) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
• Epigenetic regulation of gene expression (KEGG: hsa05202)
Protein Summary
Histone H4 is a highly conserved core histone protein that, together with histones H2A, H2B, and H3, forms the nucleosome octamer. The H4C11 gene encodes a replication-dependent variant expressed during S phase. Histone H4 undergoes extensive post-translational modifications, including acetylation at lysine residues (e.g., K5, K8, K12, K16) and methylation at arginine residues, which regulate chromatin structure and gene expression. The protein is essential for DNA packaging, repair, replication, and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C11 Knockout HEK293 Cell Line | EDJ-KQ50777 | Human | 8363 | Details Get a Quote |
| H4C11 Knockout HeLa Cell Line | EDJ-KQ54882 | Human | 8363 | Details Get a Quote |
| H4C11 Knockout A-549 Cell Line | EDJ-KQ63369 | Human | 8363 | Details Get a Quote |
| H4C11 Knockout HCT 116 Cell Line | EDJ-KQ71838 | Human | 8363 | Details Get a Quote |
