H2AC12
H2A Clustered Histone 12
Gene Information Card
| Symbol | H2AC12 |
|---|---|
| Full Name | H2A Clustered Histone 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8336 ncbi.nlm.nih.gov/gene/8336 |
| Ensembl ID | ENSG00000184270 |
| UniProt ID | P0C0S8 |
| OMIM ID | 602792 |
| HGNC ID | 4733 |
| Aliases | H2A.2, H2A/m, H2AFM, HIST1H2AM |
Description
H2AC12 is a member of the histone H2A family, which encodes a core histone protein that forms the nucleosome structure by wrapping DNA. Histones are essential for chromatin packaging, gene regulation, and DNA repair. H2AC12 is part of the histone cluster 1 on chromosome 6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered histone expression and post-translational modifications contribute to chromatin remodeling and oncogenesis. | ClinVar, COSMIC |
| Immunodeficiency | Mutations in histone genes can disrupt immune cell development and function. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 10.1 | Medium |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.1 | Cervical cancer cell line |
| K562 | 18.7 | Leukemia cell line |
| HEK293 | 14.3 | Embryonic kidney cell line |
| HepG2 | 11.5 | 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% | Unknown functional impact |
| c.95C>T | Nonsense | <0.01% | Predicted 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 assembly | • chromatin silencing |
| • DNA repair | • protein heterodimerization activity |
| • DNA binding |
Pathways
• Chromatin organization
• Nucleosome assembly
• Epigenetic regulation of gene expression
Protein Summary
Histone H2A type 1 (H2AC12) is a 130-amino acid core histone protein that forms the nucleosome by dimerizing with H2B. It contains a histone-fold domain and is subject to various post-translational modifications (e.g., acetylation, ubiquitination) that regulate chromatin dynamics and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC12 Knockout HEK293 Cell Line | EDJ-KQ51874 | Human | 85235 | Details Get a Quote |
| H2AC12 Knockout HeLa Cell Line | EDJ-KQ57692 | Human | 85235 | Details Get a Quote |
| H2AC12 Knockout A-549 Cell Line | EDJ-KQ66193 | Human | 85235 | Details Get a Quote |
| H2AC12 Knockout HCT 116 Cell Line | EDJ-KQ74620 | Human | 85235 | Details Get a Quote |
