H2AC15 (H2A Clustered Histone 15)
A replication-dependent histone H2A variant involved in chromatin structure and gene regulation
Gene Information Card
| Symbol | H2AC15 |
|---|---|
| Full Name | H2A clustered histone 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8339 ncbi.nlm.nih.gov/gene/8339 |
| Ensembl ID | ENSG00000276368 |
| UniProt ID | P0C0S8 |
| OMIM ID | 602796 |
| HGNC ID | 18750 |
| Aliases | H2A/S, H2AFS, HIST1H2AJ |
Description
H2AC15 (H2A clustered histone 15) is a replication-dependent histone H2A variant encoded by a gene in the histone cluster 1 on chromosome 6p22.2. Histones are basic nuclear proteins that form the nucleosome, the fundamental repeating unit of chromatin. H2A is one of the five main histone proteins (H1, H2A, H2B, H3, and H4) and plays a central role in packaging DNA into chromatin. H2AC15 is synthesized during S-phase and incorporated into nucleosomes, contributing to chromatin structure and regulation of gene expression. Post-translational modifications of H2A, such as ubiquitination and phosphorylation, are involved in DNA repair, transcriptional regulation, and chromosome dynamics. Mutations or aberrant expression of histone genes, including H2AC15, have been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of histone genes, including H2AC15, can disrupt chromatin structure and gene regulation, contributing to tumorigenesis. | COSMIC lists somatic mutations in H2AC15 in multiple cancer types; ClinVar reports variants with uncertain significance. |
| Immunodeficiency (potential) | Histone genes are critical for immune cell development; defects may impair lymphocyte function. | ClinVar has entries for H2AC15 variants in immune-related conditions, though evidence is limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | High | High expression in proliferating tissues |
| Testis | High | High expression in germ cells |
| Lymph node | Moderate | Moderate expression |
| Brain | Low | Low expression in non-dividing tissues |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cancer cell line with active proliferation |
| K562 | High | Leukemia cell line |
| HUVEC | Moderate | Endothelial cells |
| Fibroblasts | Low | Primary fibroblasts |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg38His | Missense | Rare | Potential impact on nucleosome stability |
| p.Gly52Asp | Missense | Rare | Unknown functional effect |
| c.1-? (frameshift) | Frameshift | Very rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in H2AC15 are rare and may lead to haploinsufficiency, affecting chromatin integrity and gene expression.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported; overexpression in cancers may act as an oncogenic driver.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant H2A proteins incorporate into nucleosomes and disrupt chromatin structure.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein heterodimerization activity |
| • nucleosome assembly | • chromatin organization |
| • negative regulation of gene expression | • positive regulation of transcription |
Pathways
• Packaging of Telomere Ends
• Chromatin organization
• Epigenetic regulation of gene expression
Protein Summary
H2AC15 is a core histone H2A protein that forms the nucleosome core by dimerizing with H2B and associating with H3-H4 tetramers. It contains a conserved histone fold domain that mediates DNA binding and protein-protein interactions. Post-translational modifications, such as ubiquitination at lysine 119, regulate DNA repair and transcriptional silencing. The protein is highly conserved across species and essential for proper chromatin function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC15 Knockout HEK293 Cell Line | EDJ-KQ50753 | Human | 8330 | Details Get a Quote |
| H2AC15 Knockout HeLa Cell Line | EDJ-KQ54858 | Human | 8330 | Details Get a Quote |
| H2AC15 Knockout A-549 Cell Line | EDJ-KQ63345 | Human | 8330 | Details Get a Quote |
| H2AC15 Knockout HCT 116 Cell Line | EDJ-KQ71814 | Human | 8330 | Details Get a Quote |
