Gene table of KMT2D : lysine methyltransferase 2D

Gene-disease associations table

Disease IDDisease nameSource of annotation with KMT2DOMIM linkNumber of associated genesgenes
PS147920KABUKI SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 2KMT2D, KDM6A

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Annotation of the gene KMT2D

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Lysine degradationhsa003107.01
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by WntR-HSA-1957214.79
formation of the beta-catenin:TCF transactivating complexR-HSA-2017227.18
PKMTs methylate histone lysinesR-HSA-32148417.66
Chromatin organizationR-HSA-48397265.19
deactivation of the beta-catenin transactivating complexR-HSA-37694027.59
TCF dependent signaling in response to WNTR-HSA-2016815.36
Signal TransductionR-HSA-1625821.78
Chromatin modifying enzymesR-HSA-32475095.19
Associated GO terms for Molecular function
GO termGO IDGO IC
histone-lysine N-methyltransferase activityGO:00180245.93
histone methyltransferase activityGO:00420545.68
lysine N-methyltransferase activityGO:00162785.7
protein-lysine N-methyltransferase activityGO:00162795.71
protein methyltransferase activityGO:00082765.33
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
methyltransferase activityGO:00081684.35
heterocyclic compound bindingGO:19013631.06
cation bindingGO:00431691.4
transition metal ion bindingGO:00469142.48
ion bindingGO:00431671.36
transferase activityGO:00167401.95
transferase activity, transferring one-carbon groupsGO:00167414.3
metal ion bindingGO:00468721.41
histone methyltransferase activity (H3-K4 specific)GO:00428006.85
S-adenosylmethionine-dependent methyltransferase activityGO:00087574.81
regulatory region nucleic acid bindingGO:00010673.03
catalytic activityGO:00038241.05
N-methyltransferase activityGO:00081705.26
transcription regulatory region DNA bindingGO:00442123.03
organic cyclic compound bindingGO:00971591.05
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
zinc ion bindingGO:00082702.66