KAT2B (Lysine Acetyltransferase 2B)
Transcriptional coactivator and histone acetyltransferase involved in chromatin remodeling and gene regulation.
Gene Information Card
| Symbol | KAT2B |
|---|---|
| Full Name | Lysine Acetyltransferase 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 3p24.3 |
| NCBI Gene ID | 8850 ncbi.nlm.nih.gov/gene/8850 |
| Ensembl ID | ENSG00000114166 |
| UniProt ID | Q92831 |
| OMIM ID | 602303 |
| HGNC ID | 4208 |
| Aliases | PCAF, P/CAF, GCN5L2 |
Description
KAT2B (lysine acetyltransferase 2B) encodes a histone acetyltransferase that functions as a transcriptional coactivator. The protein acetylates both histone and non-histone proteins, playing a key role in chromatin remodeling, cell cycle regulation, and differentiation. It interacts with multiple transcription factors and is involved in various cellular processes including DNA repair and apoptosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of KAT2B expression and activity alters gene expression programs promoting oncogenesis | PMID: 23431136 |
| Neurodevelopmental disorders | KAT2B mutations may affect neuronal gene expression and synaptic function | PMID: 27545680 |
| Metabolic disorders | KAT2B modulates metabolic gene expression via acetylation of transcription factors | PMID: 25635045 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 11.5 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cell line |
| MCF7 | 13.2 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Altered acetyltransferase activity |
| c.567delA | Frameshift | Rare | Loss of function |
| c.890A>G (p.Gln297Arg) | Missense | <0.05% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the catalytic domain.
Gain of Function (GOF)
Not well documented; some missense variants may increase activity but evidence is limited.
Dominant Negative (DN)
Mutations that retain interaction domains but lack catalytic activity may interfere with wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity | • transcription coactivator activity |
| • chromatin binding | • nucleus |
| • cytoplasm | • protein acetylation |
| • positive regulation of transcription by RNA polymerase II |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by TP53
• Notch signaling pathway
• Cell cycle
Protein Summary
KAT2B (PCAF) is a 832-amino acid protein with an N-terminal domain that interacts with transcription factors and a C-terminal acetyltransferase domain. It acetylates lysine residues on histones H3 and H4, as well as non-histone proteins such as p53 and MyoD. The protein is involved in transcriptional activation, cell cycle control, and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KAT2B Knockout HEK293 Cell Line | EDJ-KQ429 | Human | 8850 | Details Get a Quote |
| KAT2B Knockout HCT 116 Cell Line | EDJ-KQ17999 | Human | 8850 | Details Get a Quote |
| KAT2B Knockout A-549 Cell Line | EDJ-KQ18717 | Human | 8850 | Details Get a Quote |
| KAT2B Knockout HeLa Cell Line | EDJ-KQ18718 | Human | 8850 | Details Get a Quote |
| Kat2b Knockout HBZY-1 Cell Line | EDJ-KZ302 | Rat | 8850 | Details Get a Quote |
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