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KMT2A

Synonyms
ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
External resources
Summary
This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.

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
16
Likely pathogenic
0
VUS
3,433
Likely benign
14,184
Benign
1,508

Patient phenotypes

Proportions of phenotypes among 16 patients carring pathogenic or likely pathogenic variants on KMT2A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
75%
Abnormality of the musculoskeletal system
62.5%
Growth abnormality
62.5%
Abnormality of head or neck
50%
Abnormality of limbs
25%
Abnormality of the eye
25%
Abnormality of the integument
25%
Abnormality of the cardiovascular system
12.5%
Abnormality of the digestive system
12.5%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of prenatal development or birth
6.3%
Abnormality of the endocrine system
6.3%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
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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