H2AC16
Histone H2A Clustered Member 16
Gene Information Card
| Symbol | H2AC16 |
|---|---|
| Full Name | H2A clustered histone 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8331 ncbi.nlm.nih.gov/gene/8331 |
| Ensembl ID | ENSG00000196787 |
| UniProt ID | P0C0S8 |
| OMIM ID | 602786 |
| HGNC ID | 4732 |
| Aliases | HIST1H2AJ, H2A/j, H2A.1 |
Description
H2AC16 (H2A clustered histone 16) is a protein-coding gene that encodes a member of the histone H2A family. Histones are basic nuclear proteins responsible for nucleosome structure, which packages DNA into chromatin. H2AC16 is part of the histone H2A cluster on chromosome 6p22.2 and is involved in transcriptional regulation, DNA repair, and chromosome stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone expression and post-translational modifications affect chromatin remodeling and gene expression | COSMIC, ClinVar |
| Neurodevelopmental disorders | Mutations in histone genes can disrupt chromatin organization and neuronal gene regulation | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 22.3 | High |
| Lymph node | 18.7 | Medium |
| Brain | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical cancer cell line |
| K562 | 30.1 | Leukemia cell line |
| HEK293 | 25.6 | Embryonic kidney cells |
| HepG2 | 20.3 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | Potential impact on histone H2A function |
| c.100C>T | synonymous | 0.02% | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; loss of H2AC16 may affect nucleosome stability and gene expression.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly | • chromatin organization |
| • DNA binding | • protein heterodimerization activity |
| • nucleus |
Pathways
• Chromatin organization
• Packaging of telomere ends
• Formation of the beta-catenin:TCF transactivating complex
Protein Summary
Histone H2A type 1-J is a core histone protein that forms the nucleosome with histones H2B, H3, and H4. It contains a conserved histone fold domain and a C-terminal tail that undergoes various post-translational modifications (e.g., acetylation, methylation) to regulate chromatin dynamics and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC16 Knockout HEK293 Cell Line | EDJ-KQ50754 | Human | 8332 | Details Get a Quote |
| H2AC16 Knockout HeLa Cell Line | EDJ-KQ54859 | Human | 8332 | Details Get a Quote |
| H2AC16 Knockout A-549 Cell Line | EDJ-KQ63346 | Human | 8332 | Details Get a Quote |
| H2AC16 Knockout HCT 116 Cell Line | EDJ-KQ71815 | Human | 8332 | Details Get a Quote |
