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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KAT6B
lysine acetyltransferase 6B
Chromosome 10 Β· 10q22.2
NCBI Gene: 23522Ensembl: ENSG00000156650.15HGNC: HGNC:17582UniProt: B2RWN8
83PubMed Papers
22Diseases
0Drugs
169Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of DNA-templated transcriptiontranscription coactivator activityhistone acetyltransferase activityhistone H3K14 acetyltransferase activitygenitopatellar syndromeblepharophimosis - intellectual disability syndrome, SBBYS typeBlepharophimosis-intellectual disability syndrome, SBBYS typeKAT6B-related multiple congenital anomalies syndrome
✦AI Summary

KAT6B is a histone lysine acetyltransferase that catalyzes acetylation of histone H3, particularly at H3K23 and H3K14 positions 1. It functions as a component of the BRPF1-KAT6B complex and the MOZ/MORF histone acetyltransferase complex, which regulate chr10 structure and transcription 2. KAT6B plays critical roles in developmental processes including forebrain and cerebral cortex development, skeletal patterning, hematopoiesis, and maintenance of stem cells 3. Beyond histone modification, KAT6B acetylates non-histone proteins involved in transcription, DNA repair, cell cycle progression, and signal transduction 3. Germline KAT6B mutations cause neurodevelopmental syndromes including genitopatellar syndrome and Say-Barcher-Biesecker-Young-Simpson (SBBYS) syndrome, characterized by intellectual disability, cerebral anomalies, optic nerve hypoplasia, and limb anomalies 4. Clinically, KAT6B has dual roles in cancer. Somatic KAT6A/KAT6B overexpression drives ER+ breast cancer and leukemia 5, while KAT6B::KANSL1 fusions define an aggressive uterine sarcoma 6. Pharmacologic KAT6A/KAT6B inhibition demonstrates therapeutic efficacy in ER+ breast cancer and shows promise in MLL-fusion leukemia when combined with menin inhibitors 78.

Sources cited
1
KAT6B catalyzes histone H3K23 acetylation and propionylation; functions in BRPF1-KAT6B complexes
PMID: 32010779
2
KAT6B is component of BRPF1-KAT6B complex involved in embryonic development, forebrain development, skeletal patterning, and hematopoiesis
PMID: 36077605
3
KAT6B acetyltransferase regulates transcription, developmental processes, stem cell maintenance, cell cycle, and acetylates both histone and non-histone proteins
PMID: 33130515
4
Germline KAT6B variants cause genitopatellar syndrome and SBBYS with intellectual disability, cerebral anomalies, optic nerve hypoplasia, and limb anomalies
PMID: 32424177
5
KAT6A/KAT6B are frequently amplified/overexpressed in ER+ breast cancer; acetylate H3K23; can be therapeutically targeted with selective inhibitors
PMID: 37557181
6
KAT6A/KAT6B inhibition shows clinical efficacy in heavily pretreated ER+HER2- metastatic breast cancer, establishing them as druggable cancer targets
PMID: 38824244
7
KAT6B::KANSL1 fusion is the molecular driver of aggressive uterine sarcoma with hybrid endometrial stromal and smooth muscle tumor features
PMID: 37307879
8
Combined KAT6A/KAT6B/KAT7 inhibition overcomes primary and acquired resistance to menin inhibitors in MLL-fusion acute myeloid leukemia
PMID: 40536420
Disease Associationsβ“˜22
genitopatellar syndromeOpen Targets
0.79Strong
blepharophimosis - intellectual disability syndrome, SBBYS typeOpen Targets
0.78Strong
Blepharophimosis-intellectual disability syndrome, SBBYS typeOpen Targets
0.77Strong
KAT6B-related multiple congenital anomalies syndromeOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.54Moderate
Intellectual disabilityOpen Targets
0.51Moderate
Neurodevelopmental disorderOpen Targets
0.43Moderate
prostate adenocarcinomaOpen Targets
0.43Moderate
colorectal adenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
esophageal adenocarcinomaOpen Targets
0.37Weak
Hepatobiliary NeoplasmOpen Targets
0.37Weak
HER2 Positive Breast CarcinomaOpen Targets
0.37Weak
kidney neoplasmOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
Genitopatellar syndromeUniProt
Ohdo syndrome, SBBYS variantUniProt
Pathogenic Variants169
NM_012330.4(KAT6B):c.3040C>T (p.Gln1014Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β˜…β˜…β˜†β˜†2025β†’ Residue 1014
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)Pathogenic
Genitopatellar syndrome|not provided|Inborn genetic diseases|KAT6B-Related Spectrum Disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 1258
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided|Inborn genetic diseases|Genitopatellar syndrome|Genitopatellar syndrome;Blepharophimosis - intellectual disability syndrome, SBBYS type|Genitopatellar syndrome;Epilepsy, familial temporal lobe, 1
β˜…β˜…β˜†β˜†2025β†’ Residue 1402
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome|Blepharophimosis - intellectual disability syndrome, SBBYS type|Genitopatellar syndrome|KAT6B-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1058
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type|Intellectual disability|KAT6B-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 1049
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)Pathogenic
not provided|Neurodevelopmental disorder|Blepharophimosis - intellectual disability syndrome, SBBYS type
β˜…β˜…β˜†β˜†2025β†’ Residue 1117
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided|Genitopatellar syndrome|KAT6B-related multiple congenital anomalies syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1797
NM_012330.4(KAT6B):c.5254C>T (p.Gln1752Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type|Blepharophimosis - intellectual disability syndrome, SBBYS type;Genitopatellar syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 1752
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs)Pathogenic
Genitopatellar syndrome|not provided|Inborn genetic diseases|KAT6B-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1263
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β˜…β˜…β˜†β˜†2024β†’ Residue 1638
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|KAT6B-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1883
NM_012330.4(KAT6B):c.3581del (p.Gln1194fs)Pathogenic
Genitopatellar syndrome|KAT6B-realted disoder|KAT6B-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 1194
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β˜…β˜…β˜†β˜†2023β†’ Residue 1073
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|Inborn genetic diseases
β˜…β˜…β˜†β˜†2023β†’ Residue 1768
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter)Pathogenic
not provided|Intellectual disability
β˜…β˜…β˜†β˜†2023β†’ Residue 1117
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1737
NM_012330.4(KAT6B):c.3401del (p.Gly1134fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1134
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs)Pathogenic
Blepharophimosis - intellectual disability syndrome, SBBYS type|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1321
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)Pathogenic
Genitopatellar syndrome|Blepharophimosis - intellectual disability syndrome, SBBYS type
β˜…β˜…β˜†β˜†2023β†’ Residue 1334
NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter)Pathogenic
not provided|Blepharophimosis - intellectual disability syndrome, SBBYS type
β˜…β˜…β˜†β˜†2023β†’ Residue 783
View on ClinVar β†—
Related Genes
TRRAPProtein interaction100%MORF4L1Protein interaction100%MEAF6Protein interaction100%EP300Protein interaction99%H3-3BProtein interaction99%ING4Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
54%
Heart
51%
Brain
45%
Lung
30%
Liver
20%
Gene Interaction Network
Click a node to explore
KAT6BTRRAPMORF4L1MEAF6EP300H3-3BING4
PROTEIN STRUCTURE
Preparing viewer…
PDB5U2J Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.10Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.06 [0.03–0.10]
RankingsWhere KAT6B stands among ~20K protein-coding genes
  • #5,733of 20,598
    Most Researched83
  • #440of 5,498
    Most Pathogenic Variants169 Β· top 10%
  • #53of 17,882
    Most Constrained (LOEUF)0.10 Β· top 1%
Genes detectedKAT6B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Discovery of a highly potent, selective, orally bioavailable inhibitor of KAT6A/B histone acetyltransferases with efficacy against KAT6A-high ER+ breast cancer.
PMID: 37557181
Cell Chem Biol Β· 2023
1.00
2
The key roles of the lysine acetyltransferases KAT6A and KAT6B in physiology and pathology.
PMID: 33130515
Drug Resist Updat Β· 2020
0.90
3
Inhibition of lysine acetyltransferase KAT6 in ER
PMID: 38824244
Nat Med Β· 2024
0.80
4
BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease.
PMID: 36077605
Cancers (Basel) Β· 2022
0.70
5
PMID: 23236640
0.60