HDAC2 Gene: Histone Deacetylase 2 - Function, Disease Associations, and Expression
Comprehensive biomedical overview of HDAC2, including genomic context, protein function, disease links, tissue expression, and mutation data.
Gene Information Card
| Symbol | HDAC2 |
|---|---|
| Full Name | Histone deacetylase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 3066 ncbi.nlm.nih.gov/gene/3066 |
| Ensembl ID | ENSG00000196591 |
| UniProt ID | Q92769 |
| OMIM ID | 605164 |
| HGNC ID | 4853 |
| Aliases | HD2, RPD3, YAF1 |
Description
HDAC2 encodes a class I histone deacetylase that removes acetyl groups from lysine residues on histone and non-histone proteins, thereby regulating chromatin structure and gene expression. It is a core component of the Sin3 and NuRD complexes and plays critical roles in cell cycle, differentiation, and apoptosis. HDAC2 is frequently overexpressed or mutated in various cancers and is a target for epigenetic therapies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression or aberrant recruitment of HDAC2 leads to silencing of tumor suppressor genes; mutations can alter its enzymatic activity. | COSMIC; PMID: 20081835 |
| Inflammatory diseases | HDAC2 deacetylates NF-κB and other transcription factors, modulating inflammatory gene expression. | PMID: 20081835 |
| Neurological disorders | HDAC2 regulates genes involved in synaptic plasticity and memory; altered expression is linked to neurodegeneration. | PMID: 20081835 |
| Cardiac hypertrophy | HDAC2 represses anti-hypertrophic genes; its inhibition is protective in heart failure models. | PMID: 20081835 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 17.2 | Medium |
| Lung | 12.5 | Medium |
| Liver | 10.8 | Medium |
| Kidney | 11.3 | Medium |
| Testis | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical carcinoma; high expression |
| A549 | 13.2 | Lung carcinoma; moderate |
| MCF7 | 12.1 | Breast carcinoma; moderate |
| K562 | 14.0 | Leukemia; high |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg172His | Missense | 0.5% (COSMIC) | Reduced deacetylase activity; associated with cancer |
| p.Gly429Asp | Missense | 0.3% (COSMIC) | Altered substrate specificity; observed in colon cancer |
| p.Val482Ile | Missense | 0.2% (COSMIC) | Unknown functional impact; rare in population |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish HDAC2 enzymatic activity, leading to derepression of target genes, often seen in cancer.
Gain of Function (GOF)
Amplification or overexpression of HDAC2, enhancing deacetylase activity and promoting silencing of tumor suppressors.
Dominant Negative (DN)
Mutations that produce a truncated or altered protein that interferes with wild-type HDAC2 function in complexes.
View complete mutation data：
Gene Ontology (GO)
| • histone deacetylase activity | • protein deacetylase activity |
| • transcription corepressor activity | • chromatin binding |
| • nucleus | • cytoplasm |
| • regulation of transcription by RNA polymerase II | • chromatin remodeling |
| • cell cycle | • apoptotic process |
Pathways
• Notch signaling pathway
• Wnt signaling pathway
• p53 signaling pathway
• Epigenetic regulation of gene expression
• HDAC class I signaling
Protein Summary
HDAC2 is a 488-amino acid protein with a conserved deacetylase domain. It forms complexes with Sin3, NuRD, and CoREST to deacetylate histone tails, leading to chromatin condensation and transcriptional repression. It also deacetylates non-histone proteins such as p53, NF-κB, and STAT3, affecting their stability and activity. Post-translational modifications include phosphorylation and ubiquitination, which regulate its stability and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HDAC2 Knockout HEK293 Cell Line | EDJ-KQ17824 | Human | 3066 | Details Get a Quote |
| HDAC2 Knockout A-549 Cell Line | EDJ-KQ18700 | Human | 3066 | Details Get a Quote |
| HDAC2 Knockout HCT 116 Cell Line | EDJ-KQ18701 | Human | 3066 | Details Get a Quote |
| HDAC2 Knockout HeLa Cell Line | EDJ-KQ18702 | Human | 3066 | Details Get a Quote |
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