H4C12 (H4 Histone, Cluster 1, Member 12)
A replication-dependent histone H4 gene involved in chromatin structure and gene regulation.
Gene Information Card
| Symbol | H4C12 |
|---|---|
| Full Name | H4 histone, cluster 1, member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8363 ncbi.nlm.nih.gov/gene/8363 |
| Ensembl ID | ENSG00000274620 |
| UniProt ID | P62805 |
| OMIM ID | 602833 |
| HGNC ID | 4784 |
| Aliases | H4/j, HIST1H4J |
Description
H4C12 encodes a replication-dependent histone H4 protein, a core component of the nucleosome. Histone H4, along with H2A, H2B, and H3, forms the octamer around which DNA is wrapped, playing a critical role in chromatin structure and gene regulation. H4C12 is part of the histone cluster 1 on chromosome 6p22.1, and its expression is tightly linked to DNA replication during S phase. Post-translational modifications of H4, such as acetylation and methylation, are key regulators of chromatin accessibility and transcriptional activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations in histone genes, including H4C12, can disrupt chromatin structure and gene expression, contributing to oncogenesis. | COSMIC and ClinVar list somatic mutations in H4C12 in multiple cancer types, though specific functional evidence is limited. |
| Immunodeficiency | Mutations in histone genes have been linked to immune dysregulation, but direct evidence for H4C12 is not established. | No direct OMIM or ClinVar entries for H4C12 in immunodeficiency; speculative. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High (e.g., ~50-100 nTPM) | High expression in proliferating tissues. |
| Testis | High (e.g., ~50-100 nTPM) | High expression due to active cell division. |
| Lymph Node | Moderate (e.g., ~20-50 nTPM) | Moderate expression in immune tissues. |
| Brain | Low (e.g., <10 nTPM) | Low expression in non-dividing tissues. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High (e.g., >100 nTPM) | Cancer cell line with active proliferation. |
| K562 | High (e.g., >100 nTPM) | Leukemia cell line with high histone expression. |
| HUVEC | Moderate (e.g., ~50 nTPM) | Endothelial cells with moderate proliferation. |
| Fibroblasts | Low (e.g., <10 nTPM) | Primary fibroblasts have low replication-dependent histone expression. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (not in gnomAD) | Potential loss of start codon, affecting protein translation. |
| c.307G>A (p.Gly103Arg) | Missense | Somatic in cancer (COSMIC) | May affect histone fold domain, altering nucleosome stability. |
| c.100C>T (p.Arg34Ter) | Nonsense | Somatic in cancer (COSMIC) | Truncated protein, likely loss of function. |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations that truncate the protein are likely loss-of-function, impairing nucleosome assembly.
Gain of Function (GOF)
No evidence for gain-of-function mutations in H4C12; most mutations are loss-of-function or neutral.
Dominant Negative (DN)
Missense mutations in the histone fold domain could act as dominant-negative by disrupting nucleosome formation, but 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
The H4C12 protein is a 103-amino-acid histone H4 variant that is nearly identical to other H4 proteins. It contains a histone fold domain that mediates interaction with H2A, H2B, and H3 to form the nucleosome core. H4 is subject to extensive post-translational modifications, including acetylation at lysine residues (e.g., K5, K8, K12, K16) and methylation at arginine and lysine residues, which are critical for chromatin dynamics and gene regulation. The protein is highly conserved across species, underscoring its essential role in DNA packaging.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C12 Knockout HEK293 Cell Line | EDJ-KQ50776 | Human | 8362 | Details Get a Quote |
| H4C12 Knockout HeLa Cell Line | EDJ-KQ54881 | Human | 8362 | Details Get a Quote |
| H4C12 Knockout A-549 Cell Line | EDJ-KQ63368 | Human | 8362 | Details Get a Quote |
| H4C12 Knockout HCT 116 Cell Line | EDJ-KQ71837 | Human | 8362 | Details Get a Quote |
