H2AC11
Histone H2A Clustered Member 11
Gene Information Card
| Symbol | H2AC11 |
|---|---|
| Full Name | H2A clustered histone 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8336 ncbi.nlm.nih.gov/gene/8336 |
| Ensembl ID | ENSG00000196787 |
| UniProt ID | P0C0S8 |
| OMIM ID | 602792 |
| HGNC ID | 4731 |
| Aliases | H2A.2, H2A/a, H2AF2, HIST1H2AJ |
Description
H2AC11 encodes a member of the histone H2A family, a core component of the nucleosome. Histones are basic nuclear proteins responsible for nucleosome structure, chromatin packaging, and epigenetic regulation. H2AC11 is part of the histone 1 cluster on chromosome 6 and is expressed in a replication-dependent manner. Post-translational modifications of H2A, including ubiquitination and phosphorylation, regulate transcription, DNA repair, and chromosome condensation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered histone modification patterns and H2A variants contribute to chromatin remodeling defects and oncogene dysregulation. | COSMIC; PMID: 25657331 |
| Immunodeficiency | Mutations in histone genes can impair immune cell development and function. | ClinVar; PMID: 30595370 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 32.1 | High |
| Lymph node | 28.5 | High |
| Spleen | 25.8 | High |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 62.4 | Leukemia cell line |
| HeLa | 55.1 | Cervical cancer cell line |
| HEK293 | 48.7 | Embryonic kidney cell line |
| HepG2 | 41.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Potential loss of function; not validated |
| c.214C>T | nonsense | <0.01% | Premature stop; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to truncated H2A protein, disrupting nucleosome assembly.
Gain of Function (GOF)
Not reported for H2AC11.
Dominant Negative (DN)
Not reported for H2AC11.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • DNA repair (GO:0006281) | • protein heterodimerization activity (GO:0046982) |
| • DNA binding (GO:0003677) |
Pathways
• Chromatin organization (REACT:1788)
• Packaging Of Telomere Ends (REACT:111045)
• Formation of the beta-catenin:TCF transactivating complex (REACT:14797)
Protein Summary
H2AC11 is a core histone H2A protein that forms the nucleosome octamer with histones H2B, H3, and H4. It contains a conserved histone fold domain and a C-terminal tail subject to post-translational modifications. H2AC11 is essential for chromatin structure, gene regulation, and genome stability. Its expression is cell-cycle regulated and enriched in proliferating tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC11 Knockout HEK293 Cell Line | EDJ-KQ6415 | Human | 8969 | Details Get a Quote |
| H2AC11 Knockout A-549 Cell Line | EDJ-KQ30458 | Human | 8969 | Details Get a Quote |
| H2AC11 Knockout HCT 116 Cell Line | EDJ-KQ30459 | Human | 8969 | Details Get a Quote |
| H2AC11 Knockout HeLa Cell Line | EDJ-KQ30460 | Human | 8969 | Details Get a Quote |
