H2AC13
Histone H2A Clustered Member 13
Gene Information Card
| Symbol | H2AC13 |
|---|---|
| Full Name | H2A clustered histone 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8331 ncbi.nlm.nih.gov/gene/8331 |
| Ensembl ID | ENSG00000196787 |
| UniProt ID | Q99878 |
| OMIM ID | 602792 |
| HGNC ID | 4726 |
| Aliases | HIST1H2AJ, H2A/j, H2A.1 |
Description
H2AC13 (H2A clustered histone 13) is a member of the histone H2A family, located within the histone cluster 1 on chromosome 6. It encodes a replication-dependent histone that is a core component of the nucleosome. Histone H2A plays a central role in chromatin structure, DNA packaging, and regulation of gene expression through post-translational modifications.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered histone expression and post-translational modifications contribute to chromatin dysregulation and oncogenesis. | COSMIC; PMID: 22955915 |
| Immunodeficiency | Mutations in histone genes can disrupt chromatin remodeling in immune cells. | ClinVar; PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Testis | 9.2 | Medium |
| Spleen | 8.7 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.2 | Leukemia cell line |
| HeLa | 12.1 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cell line |
| HepG2 | 9.8 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown functional impact |
| c.214C>T | Nonsense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of histone function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome (GO:0000786) | • DNA binding (GO:0003677) |
| • nucleosome assembly (GO:0006334) | • protein heterodimerization activity (GO:0046982) |
Pathways
• REACT:163125 (Formation of the beta-catenin:TCF transactivating complex)
• REACT:164368 (Disease)
• REACT:170834 (Signaling by WNT)
Protein Summary
H2AC13 encodes histone H2A type 1-J, a 129-amino acid core histone protein. It contains a conserved histone fold domain that mediates dimerization with histone H2B and assembly into nucleosomes. Post-translational modifications include acetylation, methylation, and ubiquitination, which regulate chromatin dynamics and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC13 Knockout HEK293 Cell Line | EDJ-KQ50752 | Human | 8329 | Details Get a Quote |
| H2AC13 Knockout HeLa Cell Line | EDJ-KQ54857 | Human | 8329 | Details Get a Quote |
| H2AC13 Knockout A-549 Cell Line | EDJ-KQ63344 | Human | 8329 | Details Get a Quote |
| H2AC13 Knockout HCT 116 Cell Line | EDJ-KQ71813 | Human | 8329 | Details Get a Quote |
