KMT5B Chromosome 11
Lysine methyltransferase 5B
Upload your DNA to see your personal genotypes for variants in KMT5B.
What This Gene Does
This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Gene Info
Gene Group
"Histone lysine methyltransferases|SET domain containing"
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000110066
Associated Conditions (9)
Inborn genetic diseases
KMT5B-related disorder
Intellectual disability
autosomal dominant 51
Neurodevelopmental delay
See cases
Rare genetic intellectual disability
Autistic behavior
Neural tube defect
Key Variants
RS144521985
Conflicting classifications of pathogenicity
Inborn genetic diseases, KMT5B-related disorder, Inborn genetic diseases
Health Risk
RS2495592252
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 51, KMT5B-related disorder
Health Risk
RS371880484
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS565603169
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 51, Intellectual disability
Health Risk
RS575248505
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS888239971
Conflicting classifications of pathogenicity
Health Risk
RS148005738
Likely pathogenic
Health Risk
RS1555027828
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1565212298
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1565214242
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS1565226034
Likely pathogenic
Health Risk
RS1590955042
Likely pathogenic
Health Risk
All Variants (57)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2496205950 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 51, Intellectual disability |
| RS2496210221 | Health Risk | Pathogenic | Intellectual disability, autosomal dominant 51, Intellectual disability |
| RS751145286 | Health Risk | Pathogenic | — |
| RS114727354 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 51, Neural tube defect |
| RS1859424641 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 51, Intellectual disability |
| RS2153039957 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 51, Intellectual disability |
| RS2153052061 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 51, Intellectual disability |