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Aliases for KMT2E Gene

Aliases for KMT2E Gene

  • Lysine (K)-Specific Methyltransferase 2E 2 3
  • MLL5 3 4 6
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia 5 (Trithorax Homolog, Drosophila) 2 3
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 5 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 (K)-Specific Methyltransferase 2E) is a Protein Coding gene. Diseases associated with KMT2E include leukemia. Among its related pathways are Lysine degradation. 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 Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KMT2E Gene

Genomics for KMT2E Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KMT2E Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KMT2E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KMT2E Gene

No data available for Regulatory Elements 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

Proteomics data for KMT2E Gene at MOPED

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 Thr440
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KMT2E Gene

Domains for KMT2E Gene

Gene Families for KMT2E Gene

HGNC:
  • KMT :Chromatin-modifying enzymes / K-methyltransferases
  • PHF :Zinc fingers, PHD-type

Graphical View of Domain Structure for InterPro Entry

Q8IZD2

UniProtKB/Swiss-Prot:

KMT2E_HUMAN :
  • Q8IZD2
Domain:
  • Contains 1 SET domain.
Family:
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Similarity:
  • Contains 1 PHD-type zinc finger.
genes like me logo Genes that share domains with KMT2E: view

No data available for Suggested Antigen Peptide Sequences for KMT2E Gene

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:0003713 transcription coactivator activity IMP --
GO:0005515 protein binding IPI --
GO:0008270 zinc ion binding IEA --
GO:0019899 enzyme binding IPI --
GO:0042800 histone methyltransferase activity (H3-K4 specific) IDA --
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

miRNA for KMT2E Gene

miRTarBase miRNAs that target KMT2E

No data available for Transcription Factor Targeting 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.

Gene Ontology (GO) - Cellular Components for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016607 nuclear speck IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with KMT2E: view

No data available for Subcellular locations from COMPARTMENTS for KMT2E Gene

Pathways for KMT2E Gene

SuperPathways for KMT2E Gene

Superpath Contained pathways
1 Lysine degradation
genes like me logo Genes that share pathways with KMT2E: view

Pathways by source 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:0006325 chromatin organization TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0007050 cell cycle arrest IEA --
genes like me logo Genes that share ontologies with KMT2E: view

Transcripts for KMT2E Gene

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KMT2E

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KMT2E
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 for KMT2E Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KMT2E Gene

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.
genes like me logo Genes that share expressions with KMT2E: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
  • 99.8 (n)
  • 99.84 (a)
MLL5 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KMT2E 36
  • 94 (a)
OneToOne
MLL5 35
  • 92.78 (n)
  • 94.13 (a)
dog
(Canis familiaris)
Mammalia KMT2E 35
  • 90.78 (n)
  • 92.14 (a)
KMT2E 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kmt2e 35
  • 88.79 (n)
  • 89.8 (a)
Kmt2e 36
  • 89 (a)
OneToOne
Mll5 16
oppossum
(Monodelphis domestica)
Mammalia KMT2E 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KMT2E 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kmt2e 35
  • 87.57 (n)
  • 88.88 (a)
chicken
(Gallus gallus)
Aves KMT2E 36
  • 83 (a)
OneToOne
MLL5 35
  • 80.79 (n)
  • 83.45 (a)
lizard
(Anolis carolinensis)
Reptilia KMT2E 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kmt2e 35
  • 72.01 (n)
  • 70.57 (a)
Str.4749 35
zebrafish
(Danio rerio)
Actinopterygii kmt2e 35
  • 59.8 (n)
  • 61.72 (a)
kmt2e 36
  • 56 (a)
OneToOne
wufc74b02 35
fruit fly
(Drosophila melanogaster)
Insecta CG9007 36
  • 6 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea set-24 36
  • 16 (a)
ManyToMany
set-26 36
  • 7 (a)
ManyToMany
set-9 36
  • 7 (a)
ManyToMany
Y73B3A.1 36
  • 10 (a)
ManyToMany
Species with no ortholog for KMT2E:
  • 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

Selected 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 MAF
rs1628 -- 105,061,911(-) AAAAA(A/T)TACTA intron-variant
rs740297 -- 105,029,444(+) AGGGA(A/G)GAGGG intron-variant
rs740298 -- 105,029,986(-) GGATA(C/T)CCACC intron-variant
rs740300 -- 105,036,924(-) GCAAG(C/T)CATTT intron-variant
rs766981 -- 105,102,168(+) AATGT(C/G/T)CTACC reference, missense

Relevant External Links for KMT2E Gene

HapMap Linkage Disequilibrium report
KMT2E
Human Gene Mutation Database (HGMD)
KMT2E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KMT2E Gene

Disorders for KMT2E Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KMT2E Gene including...

Search for KMT2E Gene in MalaCards »
genes like me logo Genes that share disorders with KMT2E: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Myelodysplastic syndromes: the pediatric point of view. (PMID: 7672722) Locatelli F. … Severi F. (Haematologica 1995) 2 3
  3. Monosomy 7 and 7q--associated with myeloid malignancy. (PMID: 9218106) Johnson E. … Cotter F.E. (Blood Rev. 1997) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. 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

Products for KMT2E Gene

Sources for KMT2E Gene

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