Database of mammalian genes
Home

Home Search Browse Statistics User guide FAQs Links Questions Contribute Download


Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for KMT2D (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8085
Official gene symbolKMT2D
Full namemyeloid/lymphoid or mixed-lineage leukemia 2
Aliases,AAD10,ALR,CAGL114,KABUK1,KMS,MLL2,MLL4,TNRC21,
Gene summaryThe protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq]
LocationChromosome: 12   Locus: 12q12-q14
Gene position49449107 - 49412758  Map Viewer
Gene orientationminus
Gene size36350 bp
Gene sequence
OMIM ID602113