H2AC8 (Histone Cluster 2, H2ac8)
A replication-independent histone H2A variant involved in chromatin structure and gene regulation.
Gene Information Card
| Symbol | H2AC8 |
|---|---|
| Full Name | Histone Cluster 2, H2ac8 |
| Gene Type | Protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 8334 ncbi.nlm.nih.gov/gene/8334 |
| Ensembl ID | ENSG00000175756 |
| UniProt ID | Q16777 |
| OMIM ID | 602792 |
| HGNC ID | 4736 |
| Aliases | H2A.2, H2A/c, H2AC8, HIST2H2AC |
Description
H2AC8 encodes a replication-independent histone H2A protein (H2A type 2-C) that is a core component of nucleosomes. It plays a fundamental role in chromatin packaging, DNA repair, and transcriptional regulation. Unlike replication-dependent histones, H2AC8 is expressed throughout the cell cycle and can be incorporated into chromatin independently of DNA synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H2AC8 expression may disrupt nucleosome stability and chromatin accessibility, contributing to oncogenic transcriptional programs. | COSMIC reports somatic mutations in multiple cancer types. |
| Immunodeficiency | Mutations in histone genes can affect immune cell development and function. | ClinVar lists variants associated with primary immunodeficiency disorders. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Brain | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 35.0 | High expression |
| HeLa (cervical cancer) | 22.4 | Moderate expression |
| HEK293 (embryonic kidney) | 18.7 | Moderate expression |
| HepG2 (liver cancer) | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, reduced protein expression |
| c.214G>A (p.Gly72Arg) | Missense | <0.01% | May alter histone fold domain, affecting nucleosome assembly |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the histone fold domain or prevent proper nucleosome incorporation.
Gain of Function (GOF)
Not well characterized; potential oncogenic variants may alter chromatin dynamics.
Dominant Negative (DN)
Mutations that interfere with wild-type histone function in nucleosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • chromatin organization |
| • DNA repair | • protein heterodimerization activity |
| • DNA binding |
Pathways
• Chromatin organization
• Nucleosome assembly
• Epigenetic regulation of gene expression
Protein Summary
Histone H2A type 2-C is a 130-amino-acid protein that forms the nucleosome core by dimerizing with H2B and associating with H3 and H4. It contains a conserved histone fold domain and a C-terminal tail subject to post-translational modifications (e.g., ubiquitination, acetylation) that regulate chromatin dynamics and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC8 Knockout HEK293 Cell Line | EDJ-KQ4829 | Human | 3012 | Details Get a Quote |
| H2AC8 Knockout HeLa Cell Line | EDJ-KQ26393 | Human | 3012 | Details Get a Quote |
| H2AC8 Knockout A-549 Cell Line | EDJ-KQ61953 | Human | 3012 | Details Get a Quote |
| H2AC8 Knockout HCT 116 Cell Line | EDJ-KQ70434 | Human | 3012 | Details Get a Quote |
