Correlation Engine 2.0
Clear Search sequence regions
Bookmark Forward Export SNPs

QuickView for KMT2D (gene)


Gene Symbol:
KMT2D Homo sapiens Homo sapiens
Full name:
lysine methyltransferase 2D
Synonyms:
AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21, 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
Genomic Location:
Chr 12: 47699025-47735374
Description:
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 s...
Orthologs:
Mus musculus Macaca mulatta Canis lupus familiaris Bos taurus
External Links:
Entrez Gene
Transcription Factor
Binding Sites:
Cytogenetic Map:
chr 12
12q13.12





GO Molecular Function

transcription regulatory region DNA binding | RNA polymerase II transcription factor activity, sequence-specific DNA binding | histone-lysine N-methyltransferase activity | lysine N-methyltransferase activity | protein methyltransferase activity | cation binding | nucleic acid binding | S-adenosylmethionine-dependent methyltransferase activity | catalytic activity | histone methyltransferase activity (H3-K4 specific) | DNA binding | histone methyltransferase activity | ion binding | organic cyclic compound binding | transcription coactivator activity | protein binding | DNA-binding transcription factor activity | N-methyltransferase activity | transferase activity | histone binding | protein-lysine N-methyltransferase activity | methyltransferase activity | transcription coregulator activity | metal ion binding | heterocyclic compound binding

GO Biological Process

RNA metabolic process | positive regulation of macromolecule biosynthetic process | developmental process involved in reproduction | peptidyl-amino acid modification | regulation of immune system process | negative regulation of cellular process | RNA polymerase II transcription factor activity, sequence-specific DNA binding | negative regulation of RNA biosynthetic process | histone modification | cell differentiation | histone-lysine N-methyltransferase activity | lysine N-methyltransferase activity | protein methyltransferase activity | positive regulation of cellular biosynthetic process | cellular process | regulation of gene expression, epigenetic | chromatin organization | developmental growth | multicellular organismal reproductive process | negative regulation of nucleic acid-templated transcription | regulation of megakaryocyte differentiation | regulation of myeloid cell differentiation | positive regulation of nitrogen compound metabolic process | negative regulation of cellular metabolic process | regulation of cell differentiation | gamete generation | regulation of cellular process | gene silencing | regulation of metabolic process | S-adenosylmethionine-dependent methyltransferase activity | organic cyclic compound metabolic process | RNA biosynthetic process | cellular aromatic compound metabolic process | cellular component organization | response to stimulus | female gamete generation | regulation of intracellular steroid hormone receptor signaling pathway | germ cell development | cellular nitrogen compound biosynthetic process | regulation of cell proliferation | beta-catenin-TCF complex assembly | reproduction | histone H3-K4 methylation | cellular nitrogen compound metabolic process | negative regulation of metabolic process | positive regulation of RNA biosynthetic process | cellular component assembly | protein modification process | cellular biosynthetic process | macromolecule modification | regulation of nucleic acid-templated transcription | nitrogen compound metabolic process | reproductive process | regulation of signal transduction | histone methylation | regulation of intracellular estrogen receptor signaling pathway | oocyte differentiation | regulation of gene expression | methylation | histone methyltransferase activity (H3-K4 specific) | negative regulation of gene expression, epigenetic | positive regulation of cellular metabolic process | regulation of nitrogen compound metabolic process | regulation of transcription by RNA polymerase II | oogenesis | biosynthetic process | aromatic compound biosynthetic process | histone methyltransferase activity | positive regulation of intracellular estrogen receptor signaling pathway | response to estrogen | regulation of cellular metabolic process | positive regulation of signal transduction | positive regulation of cell proliferation | transcription coactivator activity | regulation of RNA metabolic process | multicellular organism reproduction | protein-containing complex assembly | protein metabolic process | DNA-binding transcription factor activity | peptidyl-lysine methylation | regulation of hemopoiesis | oocyte growth | N-methyltransferase activity | anatomical structure development | metabolic process | regulation of RNA biosynthetic process | negative regulation of transcription, DNA-templated | peptidyl-lysine modification | nucleobase-containing compound metabolic process | organic substance metabolic process | histone lysine methylation | negative regulation of biosynthetic process | negative regulation of gene expression | gene expression | transcription, DNA-templated | oocyte development | regulation of cell communication | covalent chromatin modification | regulation of transcription, DNA-templated | positive regulation of intracellular steroid hormone receptor signaling pathway | cell development | protein-lysine N-methyltransferase activity | cellular protein metabolic process | cellular macromolecule biosynthetic process | protein methylation | regulation of developmental process | methyltransferase activity | developmental process | organelle organization | cellular protein modification process | positive regulation of transcription, DNA-templated | developmental cell growth | positive regulation of nucleic acid-templated transcription | transcription coregulator activity | positive regulation of transcription by RNA polymerase II | heterocycle metabolic process | positive regulation of metabolic process | chromosome organization | chromatin silencing | cellular metabolic process | sexual reproduction | positive regulation of signaling | regulation of signaling | positive regulation of gene expression | macromolecule metabolic process | multicellular organismal process

GO Cellular Component

intracellular membrane-bounded organelle | catalytic complex | cell | nuclear lumen | MLL3/4 complex | intracellular organelle | histone methyltransferase complex | protein-containing complex | methyltransferase complex | nucleoplasm | transferase complex | membrane-bounded organelle | nucleus | organelle | membrane-enclosed lumen | intracellular