Summary: 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].

lysine methyltransferase 2DMIM:602113Ensembl:ENSG00000167548HGNC:HGNC:7133PA3084612q13.12

GO terms in KMT2D

Term TypeEvidence TypeGO Term IDGO Des.
MFISMGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFNASGO:0003677DNA binding
MFIBAGO:0003713transcription coactivator activity
MFIPIGO:0005515protein binding
MFTASGO:0018024histone-lysine N-methyltransferase activity
MFIBAGO:0042393histone binding
MFIBAGO:0042800histone methyltransferase activity (H3-K4 specific)
MFTASGO:0042800histone methyltransferase activity (H3-K4 specific)
MFIDAGO:0044212transcription regulatory region DNA binding
MFIEAGO:0046872metal ion binding
BPISSGO:0001555oocyte growth
BPISSGO:0006342chromatin silencing
BPIEAGO:0006351transcription, DNA-templated
BPNASGO:0006355regulation of transcription, DNA-templated
BPIMPGO:0008284positive regulation of cell proliferation
BPIMPGO:0033148positive regulation of intracellular estrogen receptor signaling pathway
BPIDAGO:0043627response to estrogen
BPTASGO:0045652regulation of megakaryocyte differentiation
BPIBAGO:0045944positive regulation of transcription by RNA polymerase II
BPIMPGO:0045944positive regulation of transcription by RNA polymerase II
BPISSGO:0051568histone H3-K4 methylation
BPTASGO:1904837beta-catenin-TCF complex assembly
CCIPIGO:0035097histone methyltransferase complex
CCIBAGO:0044666MLL3/4 complex
CCIDAGO:0044666MLL3/4 complex

Gene expression in normal tissue: KMT2D

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in KMT2D

DatabasePathway IDPathway Des.
kegghsa00310Lysine degradation - Homo sapiens (human)
kegghsa04934Cushing,s syndrome - Homo sapiens (human)
wikipathwaysWP2369Histone Modifications
reactomeR-HSA-1266738Developmental Biology
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-195721Signaling by WNT
reactomeR-HSA-201681TCF dependent signaling in response to WNT
reactomeR-HSA-201722Formation of the beta-catenin:TCF transactivating complex
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-3214841PKMTs methylate histone lysines
reactomeR-HSA-3247509Chromatin modifying enzymes
reactomeR-HSA-3769402Deactivation of the beta-catenin transactivating complex
reactomeR-HSA-4839726Chromatin organization
reactomeR-HSA-5617472Activation of anterior HOX genes in hindbrain development during early embryogenesis
reactomeR-HSA-5619507Activation of HOX genes during differentiation
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-8878171Transcriptional regulation by RUNX1
reactomeR-HSA-8936459RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in KMT2D