H2AC17
Histone H2A Clustered Member 17
Gene Information Card
| Symbol | H2AC17 |
|---|---|
| Full Name | H2A clustered histone 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 8337 ncbi.nlm.nih.gov/gene/8337 |
| Ensembl ID | ENSG00000196787 |
| UniProt ID | Q6FI13 |
| OMIM ID | 615014 |
| HGNC ID | 4736 |
| Aliases | HIST2H2AA3, H2A.2, H2A histone family member A2 |
Description
H2AC17 (H2A clustered histone 17) is a replication-dependent histone H2A gene located in the histone cluster 2 on chromosome 1q21.2. It encodes a core histone protein that forms the nucleosome by wrapping DNA. H2A variants play critical roles in chromatin structure, gene regulation, and DNA repair.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered histone H2A expression and post-translational modifications contribute to chromatin remodeling and oncogene activation. | COSMIC; ClinVar |
| Immunodeficiency | Mutations in histone genes can disrupt nucleosome assembly and immune gene expression. | ClinVar |
| Developmental disorders | Histone gene deletions or mutations may affect chromatin dynamics during embryogenesis. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 32.1 | Medium |
| Lymph node | 28.5 | Medium |
| Spleen | 25.0 | Medium |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 62.4 | Leukemia cell line |
| HeLa | 55.1 | Cervical cancer cell line |
| HepG2 | 40.7 | Liver cancer cell line |
| A549 | 38.2 | Lung 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% | Loss of start codon; likely loss of function |
| c.214G>A (p.Gly72Arg) | missense | <0.01% | Alters histone fold domain; potential dominant negative |
| c.307_308insA | frameshift | <0.01% | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations lead to truncated or absent H2A protein, impairing nucleosome assembly.
Gain of Function (GOF)
Not reported for H2AC17.
Dominant Negative (DN)
Missense mutations in the histone fold domain may disrupt nucleosome stability and interfere with wild-type histone function.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • DNA binding (GO:0003677) | • protein heterodimerization activity (GO:0046982) |
Pathways
• Formation of the nucleosome (R-HSA-774815)
• Chromatin modifying enzymes (R-HSA-3247509)
• Packaging Of Telomere Ends (R-HSA-171306)
Protein Summary
H2AC17 encodes histone H2A type 2-A, a 130-amino-acid core histone protein. It contains a conserved histone fold domain that mediates dimerization with H2B and interaction with H3/H4 tetramers. Post-translational modifications include acetylation, methylation, and ubiquitination, which regulate chromatin accessibility and gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H2AC17 Knockout HEK293 Cell Line | EDJ-KQ50757 | Human | 8336 | Details Get a Quote |
| H2AC17 Knockout HeLa Cell Line | EDJ-KQ54862 | Human | 8336 | Details Get a Quote |
| H2AC17 Knockout A-549 Cell Line | EDJ-KQ63349 | Human | 8336 | Details Get a Quote |
| H2AC17 Knockout HCT 116 Cell Line | EDJ-KQ71818 | Human | 8336 | Details Get a Quote |
