KMT2E (lysine methyltransferase 2E (inactive))

2003-02-01  

Identity

HGNC
KMT2E
LOCATION
7q22.3
LOCUSID
55904
ALIAS
HDCMC04P,MLL5,NKp44L,ODLURO
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000005483ENST00000257745Q8IZD2
ENSG00000005483ENST00000311117Q8IZD2
ENSG00000005483ENST00000334884Q8IZD2
ENSG00000005483ENST00000473063H7C4F3
ENSG00000005483ENST00000474203C9JQ68
ENSG00000005483ENST00000476671Q8IZD2
ENSG00000005483ENST00000478079H7C5C4
ENSG00000005483ENST00000478990C9JYI9
ENSG00000005483ENST00000479838S4R363
ENSG00000005483ENST00000482560F8WAU9
ENSG00000005483ENST00000495267C9JNE1
ENSG00000005483ENST00000622386A0A087WYW5
ENSG00000005483ENST00000667857A0A590UK87

Expression (GTEx)

0
10
20
30
40
50
60
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

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Lysine degradationKEGGhsa00310
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
PKMTs methylate histone lysinesREACTOMER-HSA-3214841

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10066duloxetineChemicalClinicalAnnotationassociatedPD28696415
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD28696415

References

Pubmed IDYearTitleCitations
326912242021ODLURO syndrome: personal experience and review of the literature.9
331113032021Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.8
338242672021MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.3
326912242021ODLURO syndrome: personal experience and review of the literature.9
331113032021Clinical Characteristics and Genotype-Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature.8
338242672021MLL5 improves ATRA driven differentiation and promotes xenotransplant engraftment in acute promyelocytic leukemia model.3
330509862020MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.5
330509862020MLL5, a histone modifying enzyme, regulates androgen receptor activity in prostate cancer cells by recruiting co-regulators, HCF1 and SET1.5
310798972019Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.34
310798972019Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.34
286964152018Genome-wide association studies of placebo and duloxetine response in major depressive disorder.9
286964152018Genome-wide association studies of placebo and duloxetine response in major depressive disorder.9
270021662016MLL5 maintains spindle bipolarity by preventing aberrant cytosolic aggregation of PLK1.2
278121322016The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity.23
270021662016MLL5 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/js/css/template-nav.css