KAT2A: Lysine Acetyltransferase 2A
Transcriptional coactivator and histone acetyltransferase regulating gene expression and chromatin remodeling
Gene Information Card
| Symbol | KAT2A |
|---|---|
| Full Name | Lysine Acetyltransferase 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 2648 ncbi.nlm.nih.gov/gene/2648 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | Q92830 |
| OMIM ID | 602301 |
| HGNC ID | 4201 |
| Aliases | GCN5, GCN5L2, PCAF-b, hGCN5 |
Description
KAT2A (lysine acetyltransferase 2A) encodes a histone acetyltransferase (HAT) that functions as a transcriptional coactivator. It acetylates lysine residues on histone H3 (e.g., H3K9, H3K14) and non-histone proteins, regulating chromatin structure, gene transcription, DNA repair, and cell cycle progression. KAT2A is a component of the SAGA (Spt-Ada-Gcn5-acetyltransferase) and ATAC (Ada-Two-A-containing) complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of KAT2A expression or activity alters histone acetylation patterns, promoting oncogenic transcription programs | COSMIC, ClinVar |
| Neurodevelopmental disorders | KAT2A mutations may impair neuronal gene expression and chromatin remodeling | ClinVar, OMIM |
| Immunodeficiency | Altered KAT2A function affects T-cell activation and immune response | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 8.5 | Medium |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Embryonic kidney |
| HeLa | 11.7 | Cervical carcinoma |
| K562 | 9.8 | Leukemia |
| A549 | 8.2 | Lung carcinoma |
| MCF7 | 7.6 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Reduced HAT activity, altered substrate specificity |
| c.567_569del (p.Lys189del) | Deletion | <0.1% | Loss of function, impaired SAGA complex assembly |
| c.2101G>A (p.Glu701Lys) | Missense | <0.1% | Gain of function, increased acetylation of oncogenic targets |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish histone acetyltransferase activity, impairing transcriptional activation and chromatin remodeling.
Gain of Function (GOF)
Mutations that enhance KAT2A activity, leading to aberrant acetylation of histones and non-histone proteins, potentially driving oncogenesis.
Dominant Negative (DN)
Mutations that produce a defective protein interfering with wild-type KAT2A function in multi-protein complexes like SAGA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin modifying enzymes (Reactome: R-HSA-3214847)
• Transcriptional regulation by the AP-2 family (Reactome: R-HSA-8866907)
• HDACs deacetylate histones (Reactome: R-HSA-3214815)
Protein Summary
KAT2A (GCN5) is a 837-amino acid lysine acetyltransferase with a conserved HAT domain and a bromodomain that recognizes acetylated lysines. It acetylates histone H3 at lysines 9 and 14, and non-histone targets such as p53, MYC, and E2F1. KAT2A is essential for embryonic development, cell proliferation, and differentiation. Its dysregulation is implicated in cancer, neurodevelopmental disorders, and immune dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Kat2a Knockout HBZY-1 Cell Line | EDJ-KZ301 | Rat | 2648 | Details Get a Quote |
