KAT6B (Lysine Acetyltransferase 6B)
A histone acetyltransferase critical for development, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | KAT6B |
|---|---|
| Full Name | Lysine Acetyltransferase 6B |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.2 |
| NCBI Gene ID | 23522 ncbi.nlm.nih.gov/gene/23522 |
| Ensembl ID | ENSG00000183688 |
| UniProt ID | Q8WYB5 |
| OMIM ID | 605880 |
| HGNC ID | 17582 |
| Aliases | MOZ2, MYST4, MORF, ZC2HC6B |
Description
KAT6B encodes a histone acetyltransferase that belongs to the MYST family. It acetylates histone H3 at lysine 9 and lysine 23, thereby regulating gene transcription. KAT6B is essential for normal development, particularly of the brain, skeleton, and heart. Mutations in KAT6B cause neurodevelopmental disorders such as Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome, and are also implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) | Heterozygous loss-of-function mutations (e.g., frameshift, nonsense) leading to haploinsufficiency or dominant-negative effects. | ClinVar, OMIM |
| Genitopatellar syndrome (GTPTS) | Heterozygous truncating mutations in the last exon, causing dominant-negative effects. | ClinVar, OMIM |
| Acute myeloid leukemia (AML) | Chromosomal translocations (e.g., t(10;16)) generating fusion proteins with KAT6A, leading to aberrant histone acetylation and leukemogenesis. | COSMIC, literature |
| Breast cancer | Somatic mutations and copy number alterations leading to altered KAT6B expression, affecting tumor progression. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Skeletal muscle | 10.5 | Medium |
| Kidney | 8.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line |
| A549 | 12.3 | Lung carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| K562 | 7.2 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.4627C>T (p.Arg1543Ter) | Nonsense | Rare (found in SBBYSS) | Loss-of-function, haploinsufficiency |
| c.3838dup (p.Gln1280ProfsTer5) | Frameshift | Rare (found in GTPTS) | Loss-of-function, dominant-negative |
| t(10;16)(q22;p13) | Chromosomal translocation | Rare (in AML) | Fusion protein with KAT6A, gain-of-function |
| c.2200A>G (p.Thr734Ala) | Missense | Somatic (in cancer) | Unknown, possibly loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations, including nonsense and frameshift, are common in SBBYSS and GTPTS, leading to reduced KAT6B activity and altered gene expression.
Gain of Function (GOF)
Chromosomal translocations in AML create fusion proteins (e.g., KAT6A-KAT6B) that exhibit aberrant acetyltransferase activity, contributing to leukemogenesis.
Dominant Negative (DN)
Truncating mutations in the last exon of KAT6B, as seen in GTPTS, can produce truncated proteins that interfere with the normal function of the wild-type allele.
View complete mutation data：
Gene Ontology (GO)
| • histone acetyltransferase activity | • transcription coactivator activity |
| • chromatin binding | • nucleus |
| • regulation of transcription | • DNA-templated |
| • histone acetylation |
Pathways
• Chromatin organization
• Transcriptional regulation by histone acetylation
• Notch signaling pathway (modulation)
• p53 signaling pathway (regulation)
Protein Summary
KAT6B is a 2073-amino acid protein containing a MYST catalytic domain, a PHD finger, and an acidic domain. It functions as a histone acetyltransferase, specifically acetylating histone H3 at lysine 9 and lysine 23. KAT6B is part of the MOZ/MORF complex, which is involved in transcriptional activation. It plays a role in development, particularly in the brain and skeleton, and is implicated in cancer when dysregulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KAT6B Knockout HEK293 Cell Line | EDJ-KQ2004 | Human | 23522 | Details Get a Quote |
| KAT6B Knockout A-549 Cell Line | EDJ-KQ22013 | Human | 23522 | Details Get a Quote |
| KAT6B Knockout HCT 116 Cell Line | EDJ-KQ22014 | Human | 23522 | Details Get a Quote |
| KAT6B Knockout HeLa Cell Line | EDJ-KQ22015 | Human | 23522 | Details Get a Quote |
