KMT2D, lysine methyltransferase 2D

KMT2D, lysine methyltransferase 2D

• The 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, Oct 2010]

• Gene Synonyms (histone-lysine N-methyltransferase 2D, ALL1-related protein, Kabuki make-up syndrome, Kabuki mental retardation syndrome, histone-lysine N-methyltransferase MLL2, lysine (K)-specific methyltransferase 2D, lysine N-methyltransferase 2D, myeloid/lymphoid or mixed-lineage leukemia 2, trinucleotide repeat containing 21, truncated lysine methyltransferase 2D, AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21,)
• NCBI Gene ID: 8085
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q59FG6
  UNIPROT ID#>>Q6PIA1
  UNIPROT ID#>>O14686
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

lysine methyltransferase 2D interacts with:

• ASH2 like, histone lysine methyltransferase complex subunit
  cell division cycle 6
  checkpoint kinase 2
  CXXC finger protein 1
  elongator acetyltransferase complex subunit 3
  H3 clustered histone 14
  H4 clustered histone 1
  HECT and RLD domain containing E3 ubiquitin protein ligase 2
  lysine demethylase 4B
  PAX interacting protein 1
  protein phosphatase 1 regulatory subunit 21
  pygopus family PHD finger 2
  RNA binding motif protein 45
  serine and arginine repetitive matrix 1
  SET domain containing 1A, histone lysine methyltransferase
  SET domain containing 3
  SUMO specific peptidase 3
  SUZ12 polycomb repressive complex 2 subunit
  UBA domain containing 2
  vir like m6A methyltransferase associated
  WD repeat domain 5
  WD repeat domain 5
  WD repeat domain 82

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.