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KAT6B

Synonyms
GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf
External resources
Summary
The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
5
Likely pathogenic
2
VUS
844
Likely benign
2,310
Benign
1,056

Patient Phenotypes

Proportions of phenotypes among 6 patients carrying pathogenic or likely pathogenic variants on KAT6B gene are displayed below. The following symptoms were found in patients with a variant in KAT6B. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
83.3%
Growth abnormality
66.7%
Abnormality of head or neck
50%
Abnormality of the musculoskeletal system
50%
Abnormality of blood and blood forming tissues
33.3%
Abnormality of limbs
33.3%
Abnormality of the ear
33.3%
Abnormality of the eye
33.3%
Abnormality of the breast
16.7%
Abnormality of the cardiovascular system
16.7%
Abnormality of the digestive system
16.7%
Abnormality of the endocrine system
16.7%
Abnormality of the genitourinary system
16.7%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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