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] See more...

Aliases for KMT2E Gene

Aliases for KMT2E Gene

  • Lysine Methyltransferase 2E (Inactive) 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 5 (Trithorax Homolog, Drosophila) 2 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 5 3 4
  • Inactive Histone-Lysine N-Methyltransferase 2E 3 4
  • Lysine (K)-Specific Methyltransferase 2E 2 3
  • Inactive Lysine N-Methyltransferase 2E 3 4
  • HDCMC04P 2 3
  • MLL5 3 4
  • Histone-Lysine N-Methyltransferase MLL5 3
  • Histone-Lysine N-Methyltransferase 2E 3
  • Lysine Methyltransferase 2E 2
  • NKp44L 3
  • ODLURO 3
  • KMT2E 5

External Ids for KMT2E Gene

Previous HGNC Symbols for KMT2E Gene

  • MLL5

Previous GeneCards Identifiers for KMT2E Gene

  • GC07P104655
  • GC07P105014

Summaries for KMT2E Gene

Entrez Gene Summary for KMT2E Gene

  • 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]

GeneCards Summary for KMT2E Gene

KMT2E (Lysine Methyltransferase 2E (Inactive)) is a Protein Coding gene. Diseases associated with KMT2E include O'donnell-Luria-Rodan Syndrome and Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome. Among its related pathways are Chromatin organization and Lysine degradation. Gene Ontology (GO) annotations related to this gene include enzyme binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is SETD5.

UniProtKB/Swiss-Prot Summary for KMT2E Gene

  • Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity).
  • [Isoform NKp44L]: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KMT2E Gene

Genomics for KMT2E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KMT2E Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KMT2E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KMT2E

Genomic Locations for KMT2E Gene

Latest Assembly
chr7:104,940,949-105,115,019
(GRCh38/hg38)
Size:
174,071 bases
Orientation:
Plus strand

Previous Assembly
chr7:104,654,652-104,755,466
(GRCh37/hg19 by Entrez Gene)
Size:
100,815 bases
Orientation:
Plus strand

chr7:104,654,626-104,754,808
(GRCh37/hg19 by Ensembl)
Size:
100,183 bases
Orientation:
Plus strand

Genomic View for KMT2E Gene

Genes around KMT2E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KMT2E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KMT2E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT2E Gene

Proteins for KMT2E Gene

  • Protein details for KMT2E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZD2-KMT2E_HUMAN
    Recommended name:
    Inactive histone-lysine N-methyltransferase 2E
    Protein Accession:
    Q8IZD2
    Secondary Accessions:
    • B6ZDE4
    • B6ZDM3
    • M4K8J3
    • Q6P5Y2
    • Q6PKG4
    • Q6T316
    • Q86TI3
    • Q86W12
    • Q86WG0
    • Q86WL2
    • Q8IV78
    • Q8IWR5
    • Q8NFF8
    • Q9NWE7

    Protein attributes for KMT2E Gene

    Size:
    1858 amino acids
    Molecular mass:
    204965 Da
    Quaternary structure:
    • Component of a complex composed of KMT2E (isoform 3), OGT and USP7; the complex stabilizes KMT2E, preventing KMT2E ubiquitination and proteosomal-mediated degradation (PubMed:26678539). Isoform 3 interacts (via N-terminus) with OGT (via TRP repeats) (PubMed:26678539, PubMed:23629655). Isoform 3 interacts with deubiquitinating enzyme USP7 (via MATH domain) (PubMed:26678539). Isoform 3 interacts (via HBM motif) with HCFC1 (via Kelch domain) (PubMed:23629655). Isoform 3 interacts with E2F1; the interaction is probably indirect and is mediated via HCFC1 (PubMed:23629655).
    SequenceCaution:
    • Sequence=AAH01296.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 492.; Evidence={ECO:0000305}; Sequence=AAH40004.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 227.; Evidence={ECO:0000305}; Sequence=AAH53906.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 227.; Evidence={ECO:0000305}; Sequence=AAI42988.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 492.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KMT2E Gene

    Alternative splice isoforms for KMT2E Gene

neXtProt entry for KMT2E Gene

Post-translational modifications for KMT2E Gene

  • Ubiquitinated. Deubiquitinated by USP7.
  • O-glycosylated at Ser-435 and Thr-440 in the SET domain by OGT which probably prevents KMT2E proteasomal-mediated degradation.
  • Glycosylation at Ser435 and Thr440
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for KMT2E
  • Boster Bio Antibodies for KMT2E

No data available for DME Specific Peptides for KMT2E Gene

Domains & Families for KMT2E Gene

Gene Families for KMT2E Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KMT2E Gene

Suggested Antigen Peptide Sequences for KMT2E Gene

GenScript: Design optimal peptide antigens:
  • Myeloid/lymphoid or mixed-lineage leukemia protein 5 (MLL5_HUMAN)
  • MLL5 (Q86W16_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZD2

UniProtKB/Swiss-Prot:

KMT2E_HUMAN :
  • The PHD-type domain binds specifically histone H3 tri-methylated at 'Lys-4' (H3K4me3), thus promoting binding to chromatin.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Domain:
  • The PHD-type domain binds specifically histone H3 tri-methylated at 'Lys-4' (H3K4me3), thus promoting binding to chromatin.
  • The SET domain does not bind the methyl group donor S-adenosyl-L-methionine and histone 3 H3K4 peptide as a large loop prevents the docking of the 'Lys-4' side chain.
  • The C-terminus domain is responsible for the localization to the centrosome during mitosis.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
genes like me logo Genes that share domains with KMT2E: view

Function for KMT2E Gene

Molecular function for KMT2E Gene

UniProtKB/Swiss-Prot Function:
Associates with chromatin regions downstream of transcriptional start sites of active genes and thus regulates gene transcription (PubMed:23629655, PubMed:24130829, PubMed:23798402). Chromatin interaction is mediated via the binding to tri-methylated histone H3 at 'Lys-4' (H3K4me3) (PubMed:24130829, PubMed:23798402). Key regulator of hematopoiesis involved in terminal myeloid differentiation and in the regulation of hematopoietic stem cell (HSCs) self-renewal by a mechanism that involves DNA methylation (By similarity). Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages including G1/S transition, S phase progression and mitotic entry (PubMed:14718661, PubMed:18573682, PubMed:19264965, PubMed:23629655). Recruited to E2F1 responsive promoters by HCFC1 where it stimulates tri-methylation of histone H3 at 'Lys-4' and transcriptional activation and thereby facilitates G1 to S phase transition (PubMed:23629655). During myoblast differentiation, required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells (By similarity).
UniProtKB/Swiss-Prot Function:
[Isoform NKp44L]: Cellular ligand for NCR2/NKp44, may play a role as a danger signal in cytotoxicity and NK-cell-mediated innate immunity.

Phenotypes From GWAS Catalog for KMT2E Gene

Gene Ontology (GO) - Molecular Function for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 21423215
GO:0018024 NOT histone-lysine N-methyltransferase activity IDA 27812132
GO:0019899 enzyme binding IPI 23629655
GO:0035064 methylated histone binding IMP 23798402
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with KMT2E: view
genes like me logo Genes that share phenotypes with KMT2E: view

Human Phenotype Ontology for KMT2E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KMT2E Gene

MGI Knock Outs for KMT2E:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2E

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KMT2E Gene

Localization for KMT2E Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2E Gene

Chromosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus speckle. Note=Absent from the nucleolus (PubMed:14718661). Localizes to chromosome during interphase and to centrosomes during mitosis (PubMed:23798402). Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402). {ECO:0000269 PubMed:14718661, ECO:0000269 PubMed:23798402}.
[Isoform 3]: Nucleus, nucleoplasm. Nucleus speckle. Note=Absent from the nucleolus (PubMed:23629655). Localizes to chromosome during interphase and to nucleus speckle during mitosis (PubMed:23798402). Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402). {ECO:0000269 PubMed:23629655, ECO:0000269 PubMed:23798402}.
[Isoform NKp44L]: Cytoplasm. Cell membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KMT2E gene
Compartment Confidence
nucleus 5
cytoskeleton 4
plasma membrane 3
cytosol 3
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 23798402
GO:0005634 nucleus IEA,IDA 23629655
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with KMT2E: view

Pathways & Interactions for KMT2E Gene

genes like me logo Genes that share pathways with KMT2E: view

Pathways by source for KMT2E Gene

1 BioSystems pathway for KMT2E Gene
2 KEGG pathways for KMT2E Gene
1 GeneTex pathway for KMT2E Gene

SIGNOR curated interactions for KMT2E Gene

Activates:

Gene Ontology (GO) - Biological Process for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002446 neutrophil mediated immunity ISS --
GO:0006306 DNA methylation ISS --
GO:0006325 chromatin organization IEA --
GO:0007049 cell cycle IEA --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with KMT2E: view

Drugs & Compounds for KMT2E Gene

(2) Drugs for KMT2E Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma 0
s-adenosylhomocysteine Experimental Pharma 0

(1) Additional Compounds for KMT2E Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-Amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with KMT2E: view

Transcripts for KMT2E Gene

mRNA/cDNA for KMT2E Gene

3 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KMT2E

Alternative Splicing Database (ASD) splice patterns (SP) for KMT2E Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^
SP1: - - - -
SP2:
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6:
SP7: - - - -
SP8: - - - - - - -
SP9:
SP10:
SP11:
SP12:
SP13: - - -
SP14:

ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14:

Relevant External Links for KMT2E Gene

GeneLoc Exon Structure for
KMT2E

Expression for KMT2E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KMT2E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KMT2E Gene

This gene is overexpressed in Blymphocyte (46.4) and CD8 Tcells (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KMT2E Gene



Protein tissue co-expression partners for KMT2E Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KMT2E

mRNA Expression by UniProt/SwissProt for KMT2E Gene:

Q8IZD2-KMT2E_HUMAN
Tissue specificity: Widely expressed in both adult and fetal tissues (PubMed:12101424, PubMed:23958951). Highest levels of expression observed in fetal thymus and kidney and in adult hematopoietic tissues, jejunum and cerebellum (PubMed:12101424, PubMed:23958951). Isoform NKp44L: Not detected on circulating cells from healthy individuals, but is expressed on a large panel of tumor and transformed cells (PubMed:23958951).

Evidence on tissue expression from TISSUES for KMT2E Gene

  • Liver(4.4)
  • Nervous system(3.6)
  • Spleen(2.7)
  • Blood(2.5)
  • Bone marrow(2.4)
  • Intestine(2.4)
  • Lung(2.4)
  • Kidney(2.4)
  • Muscle(2.3)
  • Eye(2.3)
  • Pancreas(2.2)
  • Heart(2.2)
  • Lymph node(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with KMT2E: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KMT2E Gene

Orthologs for KMT2E Gene

This gene was present in the common ancestor of animals.

Orthologs for KMT2E Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MLL5 29 30
  • 99.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KMT2E 30
  • 94 (a)
OneToOne
MLL5 29
  • 92.78 (n)
Dog
(Canis familiaris)
Mammalia KMT2E 29 30
  • 90.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Kmt2e 29 16 30
  • 88.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kmt2e 29
  • 87.57 (n)
Oppossum
(Monodelphis domestica)
Mammalia KMT2E 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KMT2E 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KMT2E 30
  • 83 (a)
OneToOne
MLL5 29
  • 80.79 (n)
Lizard
(Anolis carolinensis)
Reptilia KMT2E 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kmt2e 29
  • 72.01 (n)
Str.4749 29
Zebrafish
(Danio rerio)
Actinopterygii kmt2e 29 30
  • 59.8 (n)
OneToOne
wufc74b02 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG9007 30
  • 6 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea set-24 30
  • 16 (a)
ManyToMany
Y73B3A.1 30
  • 10 (a)
ManyToMany
set-9 30
  • 7 (a)
ManyToMany
set-26 30
  • 7 (a)
ManyToMany
Species where no ortholog for KMT2E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for KMT2E Gene

ENSEMBL:
Gene Tree for KMT2E (if available)
TreeFam:
Gene Tree for KMT2E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KMT2E: view image
Alliance of Genome Resources:
Additional Orthologs for KMT2E

Paralogs for KMT2E Gene

Paralogs for KMT2E Gene

(3) SIMAP similar genes for KMT2E Gene using alignment to 9 proteins:

  • KMT2E_HUMAN
  • C9JNE1_HUMAN
  • C9JQ68_HUMAN
  • C9JYI9_HUMAN
  • E7ETZ7_HUMAN
  • F8WAU9_HUMAN
  • H7C4F3_HUMAN
  • H7C5C4_HUMAN
  • S4R363_HUMAN
genes like me logo Genes that share paralogs with KMT2E: view

Variants for KMT2E Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KMT2E Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1028609 Uncertain Significance: O'Donnell-Luria-Rodan syndrome 105,090,023(+) A/T
NM_182931.3(KMT2E):c.1373A>T (p.Asp458Val)
MISSENSE
1029707 Likely Pathogenic: O'Donnell-Luria-Rodan syndrome 105,107,165(+) G/A
NM_182931.3(KMT2E):c.2848-1G>A
SPLICE_ACCEPTOR
1029708 Uncertain Significance: O'Donnell-Luria-Rodan syndrome 105,110,281(+) A/G
NM_182931.3(KMT2E):c.3757A>G (p.Thr1253Ala)
MISSENSE
1029709 Uncertain Significance: O'Donnell-Luria-Rodan syndrome 105,111,991(+) C/T
NM_182931.3(KMT2E):c.4235C>T (p.Ser1412Leu)
MISSENSE
928846 Likely Pathogenic: O'Donnell-Luria-Rodan syndrome 105,110,548(+) A/AT
NM_182931.3(KMT2E):c.3917dup (p.Pro1307fs)
FRAMESHIFT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KMT2E Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for KMT2E Gene

Variant ID Type Subtype PubMed ID
dgv237e55 CNV gain 17911159
esv3614412 CNV loss 21293372
nsv436902 CNV insertion 17901297
nsv608068 CNV loss 21841781
nsv819773 CNV loss 19587683

Variation tolerance for KMT2E Gene

Residual Variation Intolerance Score: 0.626% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.19; 61.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KMT2E Gene

Human Gene Mutation Database (HGMD)
KMT2E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KMT2E
Leiden Open Variation Database (LOVD)
KMT2E

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KMT2E Gene

Disorders for KMT2E Gene

MalaCards: The human disease database

(9) MalaCards diseases for KMT2E Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KMT2E in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KMT2E_HUMAN
  • O'Donnell-Luria-Rodan syndrome (ODLURO) [MIM:618512]: A neurodevelopmental disorder characterized by global developmental delay, speech delay, intellectual disability and a subtle facial gestalt. Additional common features include autism, seizures, hypotonia and functional gastrointestinal abnormalities. {ECO:0000269 PubMed:31079897}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KMT2E

genes like me logo Genes that share disorders with KMT2E: view

No data available for Genatlas for KMT2E Gene

Publications for KMT2E Gene

  1. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. (PMID: 31079897) O'Donnell-Luria AH … Rodan LH (American journal of human genetics 2019) 2 3 4 72
  2. The Human Mixed Lineage Leukemia 5 (MLL5), a Sequentially and Structurally Divergent SET Domain-Containing Protein with No Intrinsic Catalytic Activity. (PMID: 27812132) Mas-Y-Mas S … le Maire A (PloS one 2016) 2 3 4
  3. MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression. (PMID: 14718661) Deng LW … Strominger JL (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22
  4. Mixed Lineage Leukemia 5 (MLL5) Protein Stability Is Cooperatively Regulated by O-GlcNac Transferase (OGT) and Ubiquitin Specific Protease 7 (USP7). (PMID: 26678539) Ding X … Zhang Y (PloS one 2015) 3 4
  5. Mixed lineage leukemia 5 (MLL5) protein regulates cell cycle progression and E2F1-responsive gene expression via association with host cell factor-1 (HCF-1). (PMID: 23629655) Zhou P … Zhang Y (The Journal of biological chemistry 2013) 3 4

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