KMT2A Chromosome 11
Lysine methyltransferase 2A
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What This Gene Does
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.[provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"PHD finger proteins|Zinc fingers CXXC-type|Histone lysine methyltransferases|Bromodomain containing|SET domain containing"
Locus Type
gene with protein product
Location
11q23.3
Ensembl
ENSG00000118058
Associated Conditions (22)
Inborn genetic diseases
KMT2A-related disorder
Wiedemann-Steiner syndrome
Gastric cancer
Bilateral ptosis
Atypical behavior
Neurodevelopmental delay
Language disorder
Kabuki syndrome 1
Autism spectrum disorder
Intellectual disability
Rubinstein Taybi like syndrome
See cases
Neurodevelopmental disorder
Rare genetic intellectual disability
Microcephaly
Hirsutism
Cornelia de Lange syndrome 1
Adrenal cortex carcinoma
Squamous cell carcinoma of the head and neck
+2 more conditions
Key Variants
RS1064797056
Conflicting classifications of pathogenicity
Health Risk
RS1259638674
Conflicting classifications of pathogenicity
Health Risk
RS1290276055
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1315427088
Conflicting classifications of pathogenicity
Health Risk
RS1317712293
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1342425133
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1385508131
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1388016179
Conflicting classifications of pathogenicity
KMT2A-related disorder, Wiedemann-Steiner syndrome, KMT2A-related disorder
Health Risk
RS138969270
Conflicting classifications of pathogenicity
KMT2A-related disorder, KMT2A-related disorder
Health Risk
RS139366882
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139450035
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1401608038
Conflicting classifications of pathogenicity
Health Risk
All Variants (518)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691503 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1555034779 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1555038090 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1555043796 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1591266263 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Inborn genetic diseases, Squamous cell carcinoma of the head and neck |
| RS1591393351 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Inborn genetic diseases, Wiedemann-Steiner syndrome |
| RS1949967549 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS1949970237 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS200497972 | Health Risk | Pathogenic/Likely pathogenic | See cases, Wiedemann-Steiner syndrome, Neoplasm |
| RS2134311608 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS2134408087 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2496812832 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS2496813149 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS2496818327 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS781843315 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS797044565 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS886041834 | Health Risk | Pathogenic/Likely pathogenic | Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome |
| RS886041856 | Health Risk | Pathogenic/Likely pathogenic | intellectual deficiency, Wiedemann-Steiner syndrome, Inborn genetic diseases |