Gene Report

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Basic Info

Approved Symbol	KMT2E
Previous Symbol	MLL5
Symbol Alias	HDCMC04P
Approved Name	lysine (K)-specific methyltransferase 2E
Previous Name	myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)
Location	7q22.1
Position	chr7:105014179-105114361, 1
External Links	HGNC: 18541 Entrez Gene: 55904 Ensembl: ENSG00000005483
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgi, B., 2014	SNP: rs117986340	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IEA	360

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019899	enzyme binding	molecular function	IPI	34
GO:0030218	erythrocyte differentiation	biological process	ISS	3
GO:0006306	DNA methylation	biological process	ISS	2
GO:0016607	nuclear speck	cellular component	IEA	16
GO:0045893	positive regulation of transcription, DNA-templated	biological process	IMP	58
GO:0045171	intercellular bridge	cellular component	IDA	3
GO:0042800	histone methyltransferase activity (H3-K4 specific)	molecular function	IDA	1
GO:0042119	neutrophil activation	biological process	ISS	1
GO:0030854	positive regulation of granulocyte differentiation	biological process	IMP	1
GO:0005737	cytoplasm	cellular component	IEA	322
GO:0003713	transcription coactivator activity	molecular function	IMP	22
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0051568	histone H3-K4 methylation	biological process	IDA	1
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0048384	retinoic acid receptor signaling pathway	biological process	IMP	1
GO:0006325	chromatin organization	biological process	TAS	14
GO:0070688	MLL5-L complex	cellular component	IDA	1
GO:0002446	neutrophil mediated immunity	biological process	ISS	4
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0005515	protein binding	molecular function	IPI	563
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0007050	cell cycle arrest	biological process	IEA	10
GO:0071300	cellular response to retinoic acid	biological process	IDA	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs117986340	chr7:105107452 - 105107452(1)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; upstream_gene_variant	1(0/0/1)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
7q22.3	chr7:104900000-107800000	1 (1/0/0)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
7q22	chr7:98400000-107800000	1 (0/1/0)
Chr 7	chr7:0-159345973	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr7:105014179..105114361 View in gBrowse