H2AC19: H2A Clustered Histone 19
A replication-independent histone variant involved in chromatin structure and gene regulation.
Gene Information Card
| Symbol | H2AC19 |
|---|---|
| Full Name | H2A clustered histone 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 8338 ncbi.nlm.nih.gov/gene/8338 |
| Ensembl ID | ENSG00000175756 |
| UniProt ID | Q16777 |
| OMIM ID | 602792 |
| HGNC ID | 4736 |
| Aliases | HIST2H2AC, H2A.2, H2A-GL101, H2A.2c |
Description
H2AC19 (H2A clustered histone 19) encodes a member of the histone H2A family, a core component of the nucleosome. This replication-independent histone variant is involved in chromatin packaging, transcriptional regulation, and DNA repair. It is expressed in multiple tissues and is associated with various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered histone expression and post-translational modifications disrupt chromatin structure and gene regulation. | COSMIC; literature |
| Neurodevelopmental disorders | Mutations in histone genes can affect chromatin remodeling during brain development. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 32.1 | High |
| Lymph node | 28.7 | High |
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 38.5 | Leukemia cell line |
| HeLa | 22.1 | Cervical cancer cell line |
| HEK293 | 15.4 | Embryonic kidney cell line |
| MCF7 | 18.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.104C>T (p.Thr35Ile) | missense | <0.01% | Unknown significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the start codon or core histone fold domain may disrupt nucleosome assembly.
Gain of Function (GOF)
Not well documented for H2AC19.
Dominant Negative (DN)
Not reported for H2AC19.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin organization (GO:0006325) |
| • DNA binding (GO:0003677) | • protein heterodimerization activity (GO:0046982) |
Pathways
• Chromatin organization (Reactome: R-HSA-4839726)
• Packaging Of Telomere Ends (Reactome: R-HSA-171306)
Protein Summary
Histone H2A type 2-C is a 130-amino-acid core histone protein that forms the nucleosome by dimerizing with H2B and associating with H3 and H4. It contains a conserved 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 | |
|---|---|---|---|---|
| H2AC19 Knockout HEK293 Cell Line | EDJ-KQ13705 | Human | 723790 | Details Get a Quote |
| H2AC19 Knockout A-549 Cell Line | EDJ-KQ43428 | Human | 723790 | Details Get a Quote |
| H2AC19 Knockout HCT 116 Cell Line | EDJ-KQ43429 | Human | 723790 | Details Get a Quote |
| H2AC19 Knockout HeLa Cell Line | EDJ-KQ43430 | Human | 723790 | Details Get a Quote |
