Gene table of KMT2A : lysine methyltransferase 2A

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KMT2A	OMIM link	Number of associated genes	genes
PS122470	CORNELIA DE LANGE SYNDROME	ClinVar	link to OMIM	7	RAD21, TAF6, HDAC8, KMT2A, SMC1A, SMC3, NIPBL
605130	WIEDEMANN-STEINER SYNDROME	ClinVar, OMIM	link to OMIM	2	SMC1A, KMT2A

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Annotation of the gene KMT2A

Associated genes in ENSEMBL

ENSG00000118058

Associated proteins - SwissProt Accession ID

Q03164

Associated PDB IDs

Cytogenetic Band

11q23.3

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

SOX4

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Lysine degradation	hsa00310	7.01
Transcriptional misregulation in cancer	hsa05202	5.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Chromatin organization	R-HSA-4839726	5.19
PKMTs methylate histone lysines	R-HSA-3214841	7.66
Chromatin modifying enzymes	R-HSA-3247509	5.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
histone-lysine N-methyltransferase activity	GO:0018024	5.93
histone binding	GO:0042393	4.72
lysine N-methyltransferase activity	GO:0016278	5.7
protein-lysine N-methyltransferase activity	GO:0016279	5.71
unmethylated CpG binding	GO:0045322	7.95
histone methyltransferase activity	GO:0042054	5.68
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
methyltransferase activity	GO:0008168	4.35
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
transition metal ion binding	GO:0046914	2.48
zinc ion binding	GO:0008270	2.66
lysine-acetylated histone binding	GO:0070577	6.91
ion binding	GO:0043167	1.36
transferase activity	GO:0016740	1.95
transferase activity, transferring one-carbon groups	GO:0016741	4.3
double-stranded DNA binding	GO:0003690	3.09
metal ion binding	GO:0046872	1.41
histone methyltransferase activity (H3-K4 specific)	GO:0042800	6.85
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
cation binding	GO:0043169	1.4
S-adenosylmethionine-dependent methyltransferase activity	GO:0008757	4.81
regulatory region nucleic acid binding	GO:0001067	3.03
catalytic activity	GO:0003824	1.05
N-methyltransferase activity	GO:0008170	5.26
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
transcription regulatory region DNA binding	GO:0044212	3.03
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
protein methyltransferase activity	GO:0008276	5.33
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
AT DNA binding	GO:0003680	7.66
protein dimerization activity	GO:0046983	2.72
chromatin binding	GO:0003682	3.64
nucleic acid binding transcription factor activity	GO:0001071	2.65