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Aliases for KMT2E Gene

Aliases for KMT2E Gene

  • Lysine Methyltransferase 2E 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
  • Lysine (K)-Specific Methyltransferase 2E 2 3
  • MLL5 3 4
  • Histone-Lysine N-Methyltransferase MLL5 3
  • Histone-Lysine N-Methyltransferase 2E 3
  • Lysine N-Methyltransferase 2E 4
  • EC 2.1.1.43 4
  • HDCMC04P 3
  • NKp44L 3

External Ids for KMT2E Gene

Previous HGNC Symbols for KMT2E Gene

  • MLL5

Previous GeneCards Identifiers for KMT2E Gene

  • GC07P104655

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) is a Protein Coding gene. Diseases associated with KMT2E include Myeloid/Lymphoid Or Mixed Lineage Leukemia. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. 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 for KMT2E Gene

  • Histone methyltransferase that specifically mono- and dimethylates Lys-4 of histone H3 (H3K4me1 and H3K4me2). H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. 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. Plays an essential role in retinoic-acid-induced granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters. Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the G1 and G2/M phases.

  • 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 , fRNAdb sequence ontologies and piRNA Summary for KMT2E Gene

Genomics for KMT2E Gene

Regulatory Elements for KMT2E Gene

Enhancers for KMT2E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G104976 2 FANTOM5 Ensembl ENCODE dbSUPER 14.4 -32.2 -32179 10.8 CREB3L1 AGO1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 MEF2D ZNF610 KMT2E LINC01004 KMT2E-AS1 SRPK2 LOC101927902 GC07P104969
GH07G104940 1.8 FANTOM5 ENCODE dbSUPER 10 -70.5 -70533 6.5 CREB3L1 FEZF1 DMAP1 YBX1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 RNU6-1322P KMT2E LOC101927902 SRPK2 GC07P104968
GH07G104987 1 ENCODE dbSUPER 12.5 -24.4 -24429 3.6 FOXA2 SAP130 FEZF1 ZEB1 TEAD3 GATA2 GLI2 POLR2A ZNF600 KLF7 LINC01004 KMT2E-AS1 KMT2E SRPK2 GC07P104969
GH07G104956 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5 -56.6 -56646 2.9 HDGF BMI1 ZBTB40 CBX5 ZSCAN5C FOS RELB IKZF2 CREM CBFB LOC101927902 KMT2E GC07P104968
GH07G104960 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -51.4 -51399 4.8 PKNOX1 ATF1 FOXA2 ARID4B DMAP1 TCF12 ZNF766 GATA2 FOS KLF13 LOC101927902 KMT2E SRPK2 GC07P104968
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KMT2E on UCSC Golden Path with GeneCards custom track

Promoters for KMT2E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216278 -379 8801 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for KMT2E Gene

Chromosome:
7
Start:
105,014,179 bp from pter
End:
105,114,361 bp from pter
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:
    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 the MLL5-L complex, at least composed of KMT2E/MLL5, STK38, PPP1CA, PPP1CB, PPP1CC, HCFC1, ACTB and OGT. Interacts with RARA.
    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

  • O-glycosylation at Thr-440 in the SET domain by OGT is essential for the histone methyltransferase and the coactivator activity toward RARA in granulopoiesis. The absence of Thr-440 glycosylation in assays done in vitro may explain why some authors did not detected any histone methyltransferase activity for this protein.
  • Glycosylation at posLast=440440
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KMT2E Gene

Domains & Families for KMT2E Gene

Suggested Antigen Peptide Sequences for KMT2E Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZD2

UniProtKB/Swiss-Prot:

KMT2E_HUMAN :
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
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 CatalyticActivity:
S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
UniProtKB/Swiss-Prot Function:
Histone methyltransferase that specifically mono- and dimethylates Lys-4 of histone H3 (H3K4me1 and H3K4me2). H3 Lys-4 methylation represents a specific tag for epigenetic transcriptional activation. 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. Plays an essential role in retinoic-acid-induced granulopoiesis by acting as a coactivator of RAR-alpha (RARA) in target gene promoters. Also acts as an important cell cycle regulator, participating in cell cycle regulatory network machinery at multiple cell cycle stages. Required to suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells. Overexpression inhibits cell cycle progression, while knockdown induces cell cycle arrest at both the G1 and G2/M phases.
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.

Enzyme Numbers (IUBMB) for KMT2E Gene

Gene Ontology (GO) - Molecular Function for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21423215
GO:0008168 methyltransferase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0018024 histone-lysine N-methyltransferase activity TAS --
genes like me logo Genes that share ontologies with KMT2E: view
genes like me logo Genes that share phenotypes with KMT2E: view

Animal Models for KMT2E Gene

MGI Knock Outs for KMT2E:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KMT2E Gene

Localization for KMT2E Gene

Subcellular locations from UniProtKB/Swiss-Prot for KMT2E Gene

Nucleus speckle. Note=Absent from the nucleolus. {ECO:0000269 PubMed:14718661}.
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
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane 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 GeneTex pathway for KMT2E Gene
1 BioSystems pathway for KMT2E Gene
1 KEGG pathway for KMT2E Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with KMT2E: view

No data available for SIGNOR curated interactions for KMT2E Gene

Drugs & Compounds for KMT2E Gene

(2) Drugs for KMT2E Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds with KMT2E: view

Transcripts for KMT2E Gene

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
KMT2E

Expression for KMT2E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for KMT2E Gene



Protein tissue co-expression partners for KMT2E Gene

NURSA nuclear receptor signaling pathways regulating expression of KMT2E Gene:

KMT2E

mRNA Expression by UniProt/SwissProt for KMT2E Gene:

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

Evidence on tissue expression from TISSUES for KMT2E Gene

  • Liver(4.3)
  • Nervous system(3.1)
  • Blood(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with KMT2E: view

Primer Products

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 35 34
  • 99.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KMT2E 35
  • 94 (a)
OneToOne
MLL5 34
  • 92.78 (n)
dog
(Canis familiaris)
Mammalia KMT2E 34 35
  • 90.78 (n)
mouse
(Mus musculus)
Mammalia Kmt2e 34 16 35
  • 88.79 (n)
rat
(Rattus norvegicus)
Mammalia Kmt2e 34
  • 87.57 (n)
oppossum
(Monodelphis domestica)
Mammalia KMT2E 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2E 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves KMT2E 35
  • 83 (a)
OneToOne
MLL5 34
  • 80.79 (n)
lizard
(Anolis carolinensis)
Reptilia KMT2E 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2e 34
  • 72.01 (n)
Str.4749 34
zebrafish
(Danio rerio)
Actinopterygii kmt2e 34 35
  • 59.8 (n)
wufc74b02 34
fruit fly
(Drosophila melanogaster)
Insecta CG9007 35
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea set-24 35
  • 16 (a)
ManyToMany
Y73B3A.1 35
  • 10 (a)
ManyToMany
set-9 35
  • 7 (a)
ManyToMany
set-26 35
  • 7 (a)
ManyToMany
Species where no ortholog for KMT2E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for KMT2E Gene

Paralogs for KMT2E Gene

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

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

Variants for KMT2E Gene

Sequence variations from dbSNP and Humsavar for KMT2E Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000020336 -- 105,078,411(+) TTCAC(-/TA)TGTCT intron-variant
rs1000049049 -- 105,051,931(+) CTACT(G/T)TTGTC intron-variant
rs1000096257 -- 105,066,031(+) CTGGC(A/G/T)TTAAT intron-variant
rs1000112301 -- 105,086,830(+) CACTC(C/T)ACATG intron-variant
rs1000119584 -- 105,033,383(+) ATTCT(A/G)TGTAT intron-variant

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)

Relevant External Links for KMT2E Gene

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

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

Disorders for KMT2E Gene

MalaCards: The human disease database

(1) MalaCards diseases for KMT2E Gene - From: GeneCards

Disorder Aliases PubMed IDs
myeloid/lymphoid or mixed lineage leukemia
  • mll
- elite association - COSMIC cancer census association via MalaCards
Search KMT2E in MalaCards View complete list of genes associated with diseases

Relevant External Links for KMT2E

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KMT2E
genes like me logo Genes that share disorders with KMT2E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KMT2E Gene

Publications for KMT2E Gene

  1. MLL 5 protein forms intranuclear foci, and overexpression inhibits cell cycle progression. (PMID: 14718661) Deng L.-W. … Strominger J.L. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64
  2. Identification of a cellular ligand for the natural cytotoxicity receptor NKp44. (PMID: 23958951) Baychelier F. … Vieillard V. (Blood 2013) 3 4 64
  3. RNA interference against mixed lineage leukemia 5 resulted in cell cycle arrest. (PMID: 18573682) Cheng F. … Deng L.-W. (Int. J. Biochem. Cell Biol. 2008) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemia. (PMID: 12101424) Emerling B.M. … Shannon K.M. (Oncogene 2002) 3 4 64

Products for KMT2E Gene

Sources for KMT2E Gene

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