Entity Details

Primary name KMT5B
Entity type gene
Source Source Link

Details

PrimaryID51111
RefseqGeneNG_052873
SymbolKMT5B
Namelysine methyltransferase 5B
Chromosome11
Location11q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKMT5B_HUMAN

GO terms

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GOName
GO:0000779 condensed chromosome, centromeric region
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006281 DNA repair
GO:0007517 muscle organ development
GO:0018024 histone-lysine N-methyltransferase activity
GO:0034772 histone H4-K20 dimethylation
GO:0034773 histone H4-K20 trimethylation
GO:0042799 histone methyltransferase activity (H4-K20 specific)
GO:0045830 positive regulation of isotype switching
GO:0046872 metal ion binding
GO:1904047 S-adenosyl-L-methionine binding
GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining

Diseases

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Disease IDSourceNameDescription
617788 OMIMMental retardation, autosomal dominant 51 (MRD51)A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. The disease is caused by variants affecting the gene represented in this entry.