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KAT2B

Chr 3p24.3

lysine acetyltransferase 2B

Aliases:
P/CAF, GCN5, GCN5L
MANE:
ENST00000263754.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Proteinuric renal disease

    BIALLELIC, autosomal or pseudoautosomal
  • Bilateral congenital or childhood onset cataracts

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • cancer

    0.59
  • neurodegenerative disease

    0.50
  • hypertensive disorder

    0.46
  • essential hypertension

    0.35
  • mathematical ability

    0.30
  • insomnia

    0.29
  • androgenetic alopecia

    0.29
  • arthritic joint disease

    0.29
  • response to xenobiotic stimulus

    0.29
  • Abnormality of the skeletal system

    0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Histone acetyltransferase KAT2B

Functions as a histone acetyltransferase (HAT) to promote transcriptional activation (PubMed:8945521). Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles (PubMed:8945521). Has a a strong preference for acetylation of H3 at 'Lys-9' (H3K9ac) (PubMed:21131905). Also acetylates non-histone proteins, such as ACLY, MAPRE1/EB1, PLK4, RRP9/U3-55K and TBX5 (PubMed:10675335, PubMed:23001180, PubMed:23932781, PubMed:26867678, PubMed:27796307, PubMed:29174768, PubMed:9707565). Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A (PubMed:8684459). Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers (PubMed:14645221). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acetylates RRP9/U3-55K, a core subunit of the U3 snoRNP complex, impairing pre-rRNA processing (PubMed:26867678). Acetylates MAPRE1/EB1, promoting dynamic kinetochore-microtubule interactions in early mitosis (PubMed:23001180). Also acetylates spermidine (PubMed:27389534)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.