KMT2E - lysine methyltransferase 2E (inactive) Gene

Homo sapiens

Also known as MLL5; NKp44L; ODLURO; SETD5B; HDCMC04P

Gene ID: 55904 | Gene type: protein coding

About KMT2E

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:105,014,205-105,115,019 (from NCBI)

This gene has 23 transcripts (splice variants), 215 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 19.1), endometrium (RPKM 16.5) and 25 other tissues.

Summary

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

KMT2E Products(3)

mRNA	Protein	Name
NM_001410908.1	NP_001397837.1	inactive histone-lysine N-methyltransferase 2E isoform b
NM_018682.4	NP_061152.3	inactive histone-lysine N-methyltransferase 2E isoform a
NM_182931.3	NP_891847.1	inactive histone-lysine N-methyltransferase 2E isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	23629655	GOA
NOT enables histone H3 methyltransferase activity	IDA IDA: Inferred from direct assay	27812132	GOA
enables methylated histone binding	IDA IDA: Inferred from direct assay	24130829	GOA
enables methylated histone binding	IMP IMP: Inferred from mutant phenotype	23798402	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21423215	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	23629655	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	23629655	GOA
involved in positive regulation of G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	23629655	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	23798402	GOA
located in euchromatin	IDA IDA: Inferred from direct assay	23798402	GOA
located in nucleus	IDA IDA: Inferred from direct assay	23629655	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	23629655	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KMT2E Protein Structure

PHD

SET

0
300
600
900
1200
1500
1858 a.a.

Protein Preferred Names

Protein Names

inactive histone-lysine N-methyltransferase 2E

histone-lysine N-methyltransferase 2E

KMT2E Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KMT2E	Q8IZD2	TP53	Homo sapiens	P04637	Anti Tag CoIP	21423215

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

O'Donnell-Luria-Rodan Syndrome

ODLURO

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies

NEDDFL

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2

Alternating Exotropia

Exotropia

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07405	KMT2E Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KMT2E	VGNC	VGNC:42492
Bos taurus	KMT2E	VGNC	VGNC:30694
Mus musculus	KMT2E	MGD	MGI:1924825
Macaca mulatta	KMT2E	VGNC	VGNC:74073
Rattus norvegicus	KMT2E	RGD	RGD:1309641
Felis catus	KMT2E	VGNC	VGNC:63162

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