KMT2E (lysine methyltransferase 2E (inactive))

2003-02-01 Affiliation

Identity

HGNC

KMT2E

LOCATION

7q22.3

LOCUSID

55904

ALIAS

HDCMC04P,MLL5,NKp44L,ODLURO

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55904
MIM: 608444
HGNC: 18541
Ensembl: ENSG00000005483

Variants:

dbSNP: 55904
ClinVar: 55904
TCGA: ENSG00000005483
COSMIC: KMT2E

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000005483	ENST00000257745	Q8IZD2
ENSG00000005483	ENST00000311117	Q8IZD2
ENSG00000005483	ENST00000334884	Q8IZD2
ENSG00000005483	ENST00000473063	H7C4F3
ENSG00000005483	ENST00000474203	C9JQ68
ENSG00000005483	ENST00000476671	Q8IZD2
ENSG00000005483	ENST00000478079	H7C5C4
ENSG00000005483	ENST00000478990	C9JYI9
ENSG00000005483	ENST00000479838	S4R363
ENSG00000005483	ENST00000482560	F8WAU9
ENSG00000005483	ENST00000495267	C9JNE1
ENSG00000005483	ENST00000622386	A0A087WYW5
ENSG00000005483	ENST00000667857	A0A590UK87

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Lysine degradation	KEGG	ko00310
Lysine degradation	KEGG	hsa00310
Chromatin organization	REACTOME	R-HSA-4839726
Chromatin modifying enzymes	REACTOME	R-HSA-3247509
PKMTs methylate histone lysines	REACTOME	R-HSA-3214841

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA10066	duloxetine	Chemical	ClinicalAnnotation	associated		PD	28696415
PA447321	Depressive Disorder, Major	Disease	ClinicalAnnotation	associated		PD	28696415

References

Pubmed ID	Year	Title	Citations
32691224	2021	ODLURO syndrome: personal experience and review of the literature.	9
33111303	2021	Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.	8
33824267	2021	MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.	3
32691224	2021	ODLURO syndrome: personal experience and review of the literature.	9
33111303	2021	Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.	8
33824267	2021	MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.	3
33050986	2020	MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.	5
33050986	2020	MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.	5
31079897	2019	Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.	34
31079897	2019	Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.	34
28696415	2018	Genome-wide association studies of placebo and duloxetine response in major depressive disorder.	9
28696415	2018	Genome-wide association studies of placebo and duloxetine response in major depressive disorder.	9
27002166	2016	MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1.	2
27812132	2016	The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity.	23
27002166	2016	MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1.	2

Citation

Dessen P

KMT2E (lysine methyltransferase 2E (inactive))

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41378/kmt2e-(lysine-methyltransferase-2e-(inactive))