KMT2B Chromosome 19
Lysine methyltransferase 2B
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What This Gene Does
This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Zinc fingers CXXC-type|Histone lysine methyltransferases|SET domain containing"
Locus Type
gene with protein product
Location
19q13.12
Ensembl
ENSG00000272333
Associated Conditions (28)
Inborn genetic diseases
KMT2B-related disorder
Dystonia 28
childhood-onset
Intellectual disability
Kabuki syndrome 1
Gastric cancer
Intellectual developmental disorder
autosomal dominant 68
Sarcoma
Autism spectrum disorder
See cases
Thyroid cancer
nonmedullary
1
Autism
Dystonic disorder
Rare genetic intellectual disability
Hepatocellular carcinoma
Colon adenocarcinoma
+8 more conditions
Key Variants
RS1002774016
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1018604774
Conflicting classifications of pathogenicity
KMT2B-related disorder, KMT2B-related disorder
Health Risk
RS1021849113
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1036243378
Conflicting classifications of pathogenicity
Dystonia 28, childhood-onset, Dystonia 28
Health Risk
RS1042932501
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1047396806
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519285
Conflicting classifications of pathogenicity
Dystonia 28, childhood-onset, Dystonia 28
Health Risk
RS111665475
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1166786919
Conflicting classifications of pathogenicity
Health Risk
RS1172025068
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1216840899
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1223543367
Conflicting classifications of pathogenicity
Inborn genetic diseases, KMT2B-related disorder, Inborn genetic diseases
Health Risk
All Variants (254)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS775294431 | Health Risk | Pathogenic | Dystonia 28, childhood-onset, Neoplasm |
| RS1057519279 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 28, childhood-onset, Dystonia 28 |
| RS1057519283 | Health Risk | Pathogenic/Likely pathogenic | Dystonia 28, childhood-onset, Dystonia 28 |
| RS1239076295 | Health Risk | Pathogenic/Likely pathogenic | — |