H4C9: H4 Clustered Histone 9
Core histone component of the nucleosome, essential for chromatin structure and gene regulation.
Gene Information Card
| Symbol | H4C9 |
|---|---|
| Full Name | H4 Clustered Histone 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8364 ncbi.nlm.nih.gov/gene/8364 |
| Ensembl ID | ENSG00000197912 |
| UniProt ID | P62805 |
| OMIM ID | 602833 |
| HGNC ID | 4781 |
| Aliases | H4/j, H4C9, HIST1H4J, H4 histone family member J |
Description
H4C9 (H4 Clustered Histone 9) is a protein-coding gene that encodes a member of the histone H4 family. Histones are basic nuclear proteins responsible for nucleosome structure, where DNA wraps around an octamer of core histones (two each of H2A, H2B, H3, and H4). H4C9 is one of several replication-dependent histone genes clustered on chromosome 6p22.1. The protein plays a critical role in chromatin compaction, gene expression regulation, and DNA repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered histone H4 expression and post-translational modifications disrupt chromatin structure and gene silencing, contributing to tumorigenesis. | ClinVar, COSMIC |
| Immunodeficiency | Mutations in histone genes can affect immune cell development and function. | ClinVar |
| Developmental disorders | Histone H4 variants are implicated in chromatin remodeling defects leading to developmental abnormalities. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 35.1 | High |
| Lymph node | 30.5 | High |
| Spleen | 28.9 | High |
| Brain | 12.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 52.4 | High expression |
| HeLa (cervical) | 45.1 | High expression |
| HEK293 (embryonic kidney) | 38.6 | High expression |
| HepG2 (liver) | 22.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; affects translation initiation |
| c.307G>A (p.Gly103Arg) | Missense | <0.01% | Alters histone fold domain; potential dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the histone fold domain or prevent proper nucleosome assembly lead to loss of function.
Gain of Function (GOF)
Not well characterized for H4C9; gain-of-function mutations are rare in core histones.
Dominant Negative (DN)
Mutations affecting the histone fold may interfere with nucleosome formation in a dominant negative manner.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • nucleosome assembly |
| • chromatin silencing | • protein heterodimerization activity |
| • nucleus |
Pathways
• Chromatin organization
• Nucleosome assembly
• Epigenetic regulation of gene expression
Protein Summary
Histone H4 is a highly conserved core histone that, together with histone H3, forms the H3-H4 tetramer, the central scaffold of the nucleosome. H4C9 is a replication-dependent variant expressed during S phase. Post-translational modifications of H4, such as acetylation and methylation, regulate chromatin dynamics and gene transcription. The protein is essential for maintaining genomic integrity and proper cell cycle progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H4C9 Knockout HEK293 Cell Line | EDJ-KQ6194 | Human | 8294 | Details Get a Quote |
| H4C9 Knockout HeLa Cell Line | EDJ-KQ30027 | Human | 8294 | Details Get a Quote |
| H4C9 Knockout A-549 Cell Line | EDJ-KQ63339 | Human | 8294 | Details Get a Quote |
| H4C9 Knockout HCT 116 Cell Line | EDJ-KQ71808 | Human | 8294 | Details Get a Quote |
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