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Aliases for KMT2E Gene

Aliases for KMT2E Gene

  • Lysine Methyltransferase 2E 2 3
  • Lysine (K)-Specific 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
  • MLL5 3 4
  • Histone-Lysine N-Methyltransferase MLL5 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 Chromatin organization. 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

Regulatory Elements for KMT2E Gene

Promoters for KMT2E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KMT2E on UCSC Golden Path with GeneCards custom track

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

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 Thr 440
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KMT2E Gene

Domains & Families for KMT2E Gene

Gene 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 :
  • Contains 1 SET domain.
  • Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
  • Contains 1 PHD-type zinc finger.
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

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 --
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

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.

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:0070688 MLL5-L complex IDA --
genes like me logo Genes that share ontologies with KMT2E: view

No data available for Subcellular locations from COMPARTMENTS for KMT2E Gene

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 KEGG pathway for KMT2E Gene

Gene Ontology (GO) - Biological Process for KMT2E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006306 DNA methylation ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0030854 positive regulation of granulocyte differentiation IMP --
GO:0048384 retinoic acid receptor signaling pathway IMP --
GO:0051568 histone H3-K4 methylation IDA --
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

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

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, 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 expression patterns with KMT2E: view

Protein tissue co-expression partners for KMT2E Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for 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 36
  • 100 (a)
OneToOne
MLL5 35
  • 99.8 (n)
  • 99.84 (a)
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 16
Kmt2e 35
  • 88.79 (n)
  • 89.8 (a)
Kmt2e 36
  • 89 (a)
OneToOne
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 MLL5 35
  • 80.79 (n)
  • 83.45 (a)
KMT2E 36
  • 83 (a)
OneToOne
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 36
  • 56 (a)
OneToOne
kmt2e 35
  • 59.8 (n)
  • 61.72 (a)
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

(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
rs35605511 - 105,112,026(+) GTAAT(C/T)CATCT reference, missense
rs1628 -- 105,061,911(-) AAAAA(A/T)TACTA intron-variant
rs766981 -- 105,102,168(+) AATGT(C/G/T)CTACC nc-transcript-variant, reference, missense
rs766982 -- 105,102,223(+) ACTGT(G/T)TTTCT intron-variant
rs875567 -- 105,048,221(-) TATCT(C/G)TACAA intron-variant

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

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

(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 23 67
  2. Monosomy 7 and 7q--associated with myeloid malignancy. (PMID: 9218106) Johnson E. … Cotter F.E. (Blood Rev. 1997) 2 3
  3. Myelodysplastic syndromes: the pediatric point of view. (PMID: 7672722) Locatelli F. … Severi F. (Haematologica 1995) 2 3
  4. Impact of MLL5 expression on decitabine efficacy and DNA methylation in acute myeloid leukemia. (PMID: 24895338) Yun H. … Heuser M. (Haematologica 2014) 3
  5. Prognostic impact of KMT2E transcript levels on outcome of patients with acute promyelocytic leukaemia treated with all-trans retinoic acid and anthracycline-based chemotherapy: an International Consortium on Acute Promyelocytic Leukaemia study. (PMID: 24796963) Lucena-Araujo A.R. … Rego E.M. (Br. J. Haematol. 2014) 3

Products for KMT2E Gene

Sources for KMT2E Gene

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