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Gene

KAT6A

lysine acetyltransferase 6A

Summary

Cytogenetic location
8p11.21
Coordinates
Chromosome 8: 41,929,479–42,051,987 (GRCh38)
Exons
17 exons across 122.5 kb
Protein
2,004 amino acids
Also known as
MOZ
Previous symbols
ZNF220, RUNXBP2, MYST3
MANE Select transcript
ENST00000265713.8NM_006766.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

Broader groupings

  • Intellectual Disability

    • One of 233 genes linked to it

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How KAT6A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 8, with a bracket where KAT6A sits. KAT6A and 12 genes near it on chromosome 8, from 41,490,733 to 42,490,732.Chromosome 88p11.21p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.341.6 Mb41.8 Mb42 Mb42.2 Mb42.4 MbGOLGA7: 41,488,200–41,511,095, forward strandGOLGA7GINS4: 41,529,211–41,549,905, forward strandGINS4GPAT4: 41,577,187–41,625,001, forward strandGPAT4NKX6-3: 41,645,177–41,650,817, reverse strandNKX6-3ANK1: 41,653,220–41,896,812, reverse strandANK1KAT6A: 41,929,479–42,051,987, reverse strandKAT6AAP3M2: 42,152,946–42,171,673, forward strandAP3M2PLAT: 42,174,718–42,207,709, reverse strandPLATIKBKB: 42,271,302–42,332,460, forward strandIKBKBPOLB: 42,338,454–42,373,513, forward strandPOLBDKK4: 42,373,195–42,384,830, reverse strandDKK4VDAC3: 42,391,624–42,407,493, forward strandVDAC3SLC20A2: 42,416,449–42,542,530, reverse strandSLC20A2Diagram of KAT6A: 17 exons on the reverse strand of chromosome 8Exon 17: 45 known disease-causing sitesExon 16: 8 known disease-causing sitesExon 15: 8 known disease-causing sitesExon 14: 5 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 3 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 5 known disease-causing sitesExon 6: 7 known disease-causing sitesExon 5: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 7 known disease-causing sitesExon 17: 41,929,479–41,934,867, 5,389 basesExon 16: 41,937,256–41,937,568, 313 basesExon 15: 41,940,842–41,941,444, 603 basesExon 14: 41,942,793–41,943,000, 208 basesExon 13: 41,943,748–41,943,979, 232 basesExon 12: 41,946,591–41,946,684, 94 basesExon 11: 41,947,751–41,947,912, 162 basesExon 10: 41,949,222–41,949,363, 142 basesExon 9: 41,955,296–41,955,411, 116 basesExon 8: 41,974,704–41,974,822, 119 basesExon 7: 41,977,008–41,977,327, 320 basesExon 6: 41,978,642–41,978,777, 136 basesExon 5: 41,980,846–41,980,927, 82 basesExon 4: 41,981,839–41,981,954, 116 basesExon 3: 41,987,455–41,987,563, 109 basesExon 2: 42,048,378–42,049,302, 925 basesExon 1: 42,051,901–42,051,987, 87 bases171510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 9.2 kb of the gene's 122.5 kb; 6,015 of those bases code for the protein.

How a genome test reads KAT6A

106

positions in KAT6A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 122.5 kb of KAT6A, introns included, not only the 9.2 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). KAT6A gene: lysine acetyltransferase 6A. Retrieved 16 October 2026, from https://dantelabs.com/genes/kat6a

Vancouver

Dante Labs. KAT6A gene: lysine acetyltransferase 6A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/kat6a

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