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    Kmt2e lysine (K)-specific methyltransferase 2E [ Mus musculus (house mouse) ]

    Gene ID: 69188, updated on 9-May-2024

    Summary

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    Official Symbol
    Kmt2eprovided by MGI
    Official Full Name
    lysine (K)-specific methyltransferase 2Eprovided by MGI
    Primary source
    MGI:MGI:1924825
    See related
    Ensembl:ENSMUSG00000029004 AllianceGenome:MGI:1924825
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mll5; NKp44L; 1810033J14Rik; 9530077A04Rik; D230038D11Rik
    Summary
    Predicted to enable enzyme binding activity and methylated histone binding activity. Involved in several processes, including DNA methylation; erythrocyte differentiation; and neutrophil activation. Predicted to be located in nuclear body and transcriptionally active chromatin. Predicted to be part of protein-containing complex. Is expressed in several structures, including alimentary system; eye; heart; metanephros; and nervous system. Human ortholog(s) of this gene implicated in autistic disorder and cervical cancer. Orthologous to human KMT2E (lysine methyltransferase 2E (inactive)). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E14 (RPKM 16.9), whole brain E14.5 (RPKM 16.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kmt2e in Genome Data Viewer
    Location:
    5 A3; 5 10.33 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (23638034..23709233)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (23433036..23504235)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene lipoma HMGIC fusion partner-like 3 Neighboring gene STARR-positive B cell enhancer mm9_chr5:22666753-22667054 Neighboring gene STARR-seq mESC enhancer starr_12596 Neighboring gene macrophage migration inhibitory factor, pseudogene 12 Neighboring gene STARR-seq mESC enhancer starr_12597 Neighboring gene STARR-seq mESC enhancer starr_12598 Neighboring gene STARR-seq mESC enhancer starr_12600 Neighboring gene STARR-seq mESC enhancer starr_12601 Neighboring gene SPATA31 subfamily H member 2 Neighboring gene STARR-seq mESC enhancer starr_12603 Neighboring gene RIKEN cDNA 5031425E22 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:22892703-22893070 Neighboring gene STARR-seq mESC enhancer starr_12607 Neighboring gene STARR-seq mESC enhancer starr_12606 Neighboring gene STARR-positive B cell enhancer ABC_E1297 Neighboring gene STARR-positive B cell enhancer ABC_E528 Neighboring gene serine/arginine-rich protein specific kinase 2 Neighboring gene STARR-seq mESC enhancer starr_12611 Neighboring gene STARR-positive B cell enhancer mm9_chr5:23122338-23122639 Neighboring gene STARR-positive B cell enhancer mm9_chr5:23143262-23143562 Neighboring gene STARR-seq mESC enhancer starr_12614 Neighboring gene STARR-positive B cell enhancer mm9_chr5:23206519-23206819 Neighboring gene expressed sequence AI506816 Neighboring gene predicted gene, 42226 Neighboring gene predicted gene, 50451

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice. Li YJ, et al. Mol Neurobiol, 2023 Mar. PMID 36534336
    2. MLL5 is involved in retinal photoreceptor maturation through facilitating CRX-mediated photoreceptor gene transactivation. Zhang X, et al. iScience, 2022 Apr 15. PMID 35359806, Free PMC Article
    3. Mll5 is required for normal spermatogenesis. Yap DB, et al. PLoS One, 2011. PMID 22069496, Free PMC Article
    4. DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization. Tasdogan A, et al. Cell Stem Cell, 2016 Dec 1. PMID 27641306
    5. Hematopoietic stem cell transplantation without irradiation. Waskow C, et al. Nat Methods, 2009 Apr. PMID 19270698

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice.
      Title: KMT2E Haploinsufficiency Manifests Autism-Like Behaviors and Amygdala Neuronal Development Dysfunction in Mice.
    2. MLL5 has a role in suppressing antiviral innate immune response by facilitating STUB1-mediated RIG-I degradation
      Title: MLL5 suppresses antiviral innate immune response by facilitating STUB1-mediated RIG-I degradation.
    3. toxic reactive oxygen species levels in Mll5(-/-) mice are critically dependent on type 1 interferon (IFN-1) signaling, which triggers mitochondrial accumulation of full-length Bid.[IFN-1]
      Title: DNA Damage-Induced HSPC Malfunction Depends on ROS Accumulation Downstream of IFN-1 Signaling and Bid Mobilization.
    4. MLL5 plays an integral role in novel chromatin regulatory mechanisms that suppress inappropriate expression of S-phase-promoting genes and maintain expression of determination genes in quiescent cells.
      Title: MLL5, a trithorax homolog, indirectly regulates H3K4 methylation, represses cyclin A2 expression, and promotes myogenic differentiation.
    5. MLL5 is a key regulator of normal hematopoiesis
      Title: Loss of MLL5 results in pleiotropic hematopoietic defects, reduced neutrophil immune function, and extreme sensitivity to DNA demethylation.
    6. findings establish several nonredundant functions for Mll5, including an essential role in regulating proliferation and functional integrity of hematopoietic stem/progenitor cells
      Title: Impaired function of primitive hematopoietic cells in mice lacking the Mixed-Lineage-Leukemia homolog MLL5.
    7. inactivation of the Mll5 gene in mice results in a 30% reduction in the average representation of hematopoietic stem cells and in functional impairment of long-term hematopoietic repopulation potential under competitive conditions
      Title: MLL5 contributes to hematopoietic stem cell fitness and homeostasis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10078

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables methylated histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epigenetic regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in erythrocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neutrophil activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neutrophil mediated immunity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of G1/S transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Rpd3L-Expanded complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Set3 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of euchromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    inactive histone-lysine N-methyltransferase 2E
    Names
    histone-lysine N-methyltransferase MLL5
    myeloid/lymphoid or mixed-lineage leukemia protein 5 homolog
    NP_081260.1
    XP_006535868.1
    XP_006535869.1
    XP_006535870.1
    XP_017176579.1
    XP_036021362.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_026984.2 → NP_081260.1  inactive histone-lysine N-methyltransferase 2E

      See identical proteins and their annotated locations for NP_081260.1

      Status: VALIDATED

      Source sequence(s)
      AC122022, AC138671
      Consensus CDS
      CCDS51430.1
      UniProtKB/Swiss-Prot
      Q3SYI5, Q3TUY2, Q3UG20, Q3V410, Q5FWI1, Q6P3B3, Q8BS65, Q8CFX7, Q9CVK6
      Related
      ENSMUSP00000092569.3, ENSMUST00000094962.9
      Conserved Domains (5) summary
      COG1196
      Location:483 → 716
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03427
      Location:1749 → 1857
      PRK03427; cell division protein ZipA; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam05109
      Location:1350 → 1609
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      23638034..23709233
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006535805.4 → XP_006535868.1  inactive histone-lysine N-methyltransferase 2E isoform X1

      See identical proteins and their annotated locations for XP_006535868.1

      UniProtKB/Swiss-Prot
      Q3SYI5, Q3TUY2, Q3UG20, Q3V410, Q5FWI1, Q6P3B3, Q8BS65, Q8CFX7, Q9CVK6
      Related
      ENSMUSP00000110781.2, ENSMUST00000115128.8
      Conserved Domains (5) summary
      COG1196
      Location:483 → 716
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03427
      Location:1749 → 1857
      PRK03427; cell division protein ZipA; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam05109
      Location:1350 → 1609
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

    2. XM_006535806.3 → XP_006535869.1  inactive histone-lysine N-methyltransferase 2E isoform X2

      Conserved Domains (5) summary
      COG1196
      Location:483 → 716
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03427
      Location:1707 → 1815
      PRK03427; cell division protein ZipA; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam05109
      Location:1308 → 1567
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

    3. XM_006535807.3 → XP_006535870.1  inactive histone-lysine N-methyltransferase 2E isoform X3

      Conserved Domains (5) summary
      COG1196
      Location:483 → 746
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03427
      Location:1664 → 1772
      PRK03427; cell division protein ZipA; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam05109
      Location:1265 → 1524
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

    4. XM_017321090.2 → XP_017176579.1  inactive histone-lysine N-methyltransferase 2E isoform X4

      Conserved Domains (5) summary
      COG1196
      Location:483 → 746
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03427
      Location:1622 → 1730
      PRK03427; cell division protein ZipA; Provisional
      cd15550
      Location:120 → 163
      PHD_MLL5; PHD finger found in mixed lineage leukemia 5 (MLL5)
      pfam05109
      Location:1223 → 1482
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd19182
      Location:323 → 451
      SET_KMT2E; SET domain found in inactive histone-lysine N-methyltransferase 2E (KMT2E) and similar proteins

    5. XM_036165469.1 → XP_036021362.1  inactive histone-lysine N-methyltransferase 2E isoform X5

      Conserved Domains (3) summary
      PRK13042
      Location:830 → 925
      PRK13042; superantigen-like protein SSL4; Reviewed
      PRK03427
      Location:1169 → 1277
      PRK03427; cell division protein ZipA; Provisional
      pfam05109
      Location:770 → 1029
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    RNA

    1. XR_003955707.2 RNA Sequence

    2. XR_389753.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UG20.2 GenPept UniProtKB/Swiss-Prot:Q3UG20

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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