Details for Gene KAT2B

GENE NAME KAT2B
CHROMOSOME 3
ENSEMBL ID ENSG00000114166
ENTREZ ID 8850
UNIPROT ACCESSION NUMBER Q92831
GO MOLECULAR FUNCTION cyclin-dependent protein serine/threonine kinase inhibitor activity; histone acetyltransferase activity; protein kinase binding; protein binding; transcription coactivator activity; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor; acetyltransferase activity; chromatin binding
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-210744; R-HSA-73864; R-HSA-2644606; R-HSA-8878171; R-HSA-2644602; R-HSA-8939211; R-HSA-392499; R-HSA-8941856; R-HSA-9614085; R-HSA-2894862; R-HSA-9012852; R-HSA-397014; R-HSA-5250913; R-HSA-73762; R-HSA-5688426; R-HSA-186712; R-HSA-73857; R-HSA-8936459; R-HSA-1980143; R-HSA-8878159; R-HSA-597592; R-HSA-9617629; R-HSA-73854; R-HSA-9013508; R-HSA-3214847; R-HSA-350054; R-HSA-5663202; R-HSA-5689901; R-HSA-74160; R-HSA-5578768; R-HSA-2032785; R-HSA-2122947; R-HSA-9013695; R-HSA-212436; R-HSA-9006931; R-HSA-9013694; R-HSA-1266738; R-HSA-5576891; hsa05166; hsa05203; R-HSA-3247509; R-HSA-212165; hsa04919; R-HSA-1643685; R-HSA-9018519; R-HSA-1912422; R-HSA-5250924; R-HSA-157118; R-HSA-2644603; R-HSA-2894858; R-HSA-1912408; R-HSA-162582; hsa04330; R-HSA-4839726
1 combination linked to KAT2B OLI007
1 variant linked to KAT2B KAT2B:c.920T>C, p.Phe307Ser
2 diseases linked to KAT2B Genetic steroid-resistant nephrotic syndrome; Microcephaly-cardiomyopathy syndrome
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