KAT7

Chr 17

lysine acetyltransferase 7

Also known as: HBO1, HBOA, MYST2, ZC2HC7

NCBI Gene: 11143ENSG00000136504UniProt: O95251

The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]

0
Active trials
11
Pathogenic / LP
62
ClinVar variants
13
Pubs (1 yr)
4.3
Missense Z· constrained
0.13
LOEUF· LoF intolerant
Clinical Summary— KAT7
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 50 VUS of 62 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.13LOEUF
pLI 1.000
Z-score 5.50
OE 0.03 (0.01–0.13)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
4.28Z-score
OE missense 0.36 (0.31–0.41)
125 obs / 350.4 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.03 (0.01–0.13)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.36 (0.31–0.41)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.02
0≤1.21.6
LoF obs/exp: 1 / 37.2Missense obs/exp: 125 / 350.4Syn Z: -0.16

ClinVar Variant Classifications

62 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS50
Benign1
10
Pathogenic
1
Likely Pathogenic
50
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
49
1
0
50
Likely Benign
0
0
0
0
0
Benign
0
0
0
1
1
Total04912162

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KAT7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Histone Lactylation-Mediated Metabolic Remodeling in Vascular Smooth Muscle Cells Aggravates Aortic Aneurysm and Dissection by Promoting Lactate Accumulation.
Liu L et al.·Circulation
2026Functional
Histone lysine acetyltransferase inhibitors: an emerging class of drugs for cancer therapy.
White J et al.·Trends Pharmacol Sci
2024Review
KAT6A and KAT7 Histone Acetyltransferase Complexes Are Molecular Dependencies and Therapeutic Targets in NUP98-Rearranged Acute Myeloid Leukemia.
Michmerhuizen NL et al.·Cancer Discov
2025
Catalytic Inhibition of KAT6/KAT7 Enhances the Efficacy and Overcomes Primary and Acquired Resistance to Menin Inhibitors in MLL Leukemia.
Gordon SJV et al.·Cancer Discov
2025
Spermidine metabolism regulates leukemia stem and progenitor cell function through KAT7 expression in patient-derived mouse models.
Rondeau V et al.·Sci Transl Med
2024Functional
KAT7-acetylated YBX1 promotes hepatocellular carcinoma proliferation by reprogramming nucleotide metabolism.
Huang H et al.·BMC Cancer
2025
HBO1 is required for the maintenance of leukaemia stem cells.
MacPherson L et al.·Nature
2020
KAT7 promotes radioresistance through upregulating PI3K/AKT signaling in breast cancer.
Ma Y et al.·J Radiat Res
2023
A KAT7-lncPVT1 positive feedback loop promotes lung cancer carcinogenesis and therapy resistance via H3K14ac/HDGF/PI3K/AKT Axis.
Lu Y et al.·Int J Biol Macromol
2026
Targeting Senescent Alveolar Type 2 Cells with a Gene-Editable FePt Dual-Atom Catalyst for Mitigating Idiopathic Pulmonary Fibrosis.
Lu Q et al.·ACS Nano
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
KAT7/HMGN1 signaling epigenetically induces tyrosine phosphorylation-regulated kinase 1A expression to ameliorate insulin resistance in Alzheimer's disease
Lu QS et al.·World J Psychiatry
2024
Targeting KAT7 inhibits the progression of colorectal cancer
Wang H et al.·Theranostics
2025
Stem cell plasticity, acetylation of H3K14, and de novo gene activation rely on KAT7.
Kueh AJ et al.·Cell Rep
2023
A genome-wide CRISPR-based screen identifies KAT7 as a driver of cellular senescence.
Wang W et al.·Sci Transl Med
2021
ACSS2 coupled with KAT7 regulates histone beta-hydroxybutyrylation to enhance transcription
Wang S et al.·Sci Adv
2025
Circ-myh8/KAT7 Affects PANoptosis in Pulmonary Arterial Smooth Muscle Cells: Involvement of Super-Enhancers in FOSL2 Expression
Zhang J et al.·J Am Heart Assoc
2025
Identification of Chromatin Regulatory Factors Related to Immunity and Treatment of Alzheimer's Disease
Xiong F et al.·J Mol Neurosci
2023
Insulin sensitivity in the aged heart is improved by down-regulation of KAT7 in vivo and in vitro.
Wang B et al.·Cell Cycle
2022
KAT7 promoted gastric cancer progression through promoting YAP1 activation.
Guo X et al.·Pathol Res Pract
2022
Competitive antagonism of KAT7 crotonylation against acetylation affects procentriole formation and colorectal tumorigenesis
Wang M et al.·Nat Commun
2025
Top 10 full-text resultsSearch PubTator3 ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients