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    Kmt2a lysine (K)-specific methyltransferase 2A [ Mus musculus (house mouse) ]

    Gene ID: 214162, updated on 9-May-2024

    Summary

    Official Symbol
    Kmt2aprovided by MGI
    Official Full Name
    lysine (K)-specific methyltransferase 2Aprovided by MGI
    Primary source
    MGI:MGI:96995
    See related
    Ensembl:ENSMUSG00000002028 AllianceGenome:MGI:96995
    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
    HRX; Mll; All1; Mll1; ALL-1; Cxxc7; HTRX1; mKIAA4050; 6430520K01
    Summary
    Enables DNA binding activity; chromatin binding activity; and histone methyltransferase activity (H3-K4 specific). Involved in several processes, including definitive hemopoiesis; regulation of gene expression; and regulation of histone modification. Acts upstream of or within several processes, including hematopoietic or lymphoid organ development; macromolecule methylation; and regulation of histone modification. Located in nucleus. Is expressed in several structures, including extraembryonic component; genitourinary system; hematopoietic system; nervous system; and retina. Used to study acute lymphoblastic leukemia and acute myeloid leukemia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; mixed phenotype acute leukemia; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thymus adult (RPKM 13.7), spleen adult (RPKM 10.1) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    9 A5.2; 9 24.84 cM
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (44714652..44793492, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (44803355..44881352, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9756 Neighboring gene intraflagellar transport 46 Neighboring gene transmembrane protein 25 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene predicted gene, 39326 Neighboring gene STARR-positive B cell enhancer ABC_E6728 Neighboring gene STARR-seq mESC enhancer starr_23986 Neighboring gene predicted gene, 30883 Neighboring gene predicted gene, 26249

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (26)  1 citation
    • Endonuclease-mediated (4) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA4050

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone H3K4 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H3K4 methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone H3K4 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K4 monomethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K4 trimethyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lysine-acetylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-cysteine methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables unmethylated CpG binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in T-helper 2 cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to transforming growth factor beta stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in definitive hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within epigenetic regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within homeostasis of number of cells within a tissue IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within methylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA methylation-dependent heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of fibroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within peptidyl-lysine monomethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within post-embryonic development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in protein modification process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein-containing complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of short-term neuronal synaptic plasticity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within spleen development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transcription initiation-coupled chromatin remodeling ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    part_of histone methyltransferase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of histone methyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase 2A
    Names
    cysteine methyltransferase KMT2A
    histone-lysine N-methyltransferase MLL
    myeloid/lymphoid or mixed-lineage leukemia protein 1
    trithorax Drosophila
    zinc finger protein HRX
    NP_001344478.1
    XP_006510191.1
    XP_011240744.1
    XP_011240745.1
    XP_011240746.1
    XP_030100077.1
    XP_036010712.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001357549.2NP_001344478.1  histone-lysine N-methyltransferase 2A

      Status: VALIDATED

      Source sequence(s)
      AC061963, AC142113, AC166048
      UniProtKB/Swiss-Prot
      E9QNE7, P55200, Q3UEU1, Q3USE7
      Related
      ENSMUSP00000110337.2, ENSMUST00000114689.8
      Conserved Domains (10) summary
      cd05493
      Location:16491779
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:36663749
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:38283948
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      pfam02008
      Location:11441191
      zf-CXXC; CXXC zinc finger domain
      cd15588
      Location:14321478
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14801529
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15671626
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18731985
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05964
      Location:20262073
      FYRN; F/Y-rich N-terminus
      cl25496
      Location:31523361
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      44714652..44793492 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242443.4XP_011240745.1  histone-lysine N-methyltransferase 2A isoform X2

      UniProtKB/Swiss-Prot
      E9QNE7, P55200, Q3UEU1, Q3USE7
      Conserved Domains (10) summary
      cd05493
      Location:16481778
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:36653748
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14321478
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14801528
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15661625
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18721984
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05109
      Location:31513360
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02008
      Location:11441191
      zf-CXXC; CXXC zinc finger domain
      pfam05964
      Location:20252072
      FYRN; F/Y-rich N-terminus
      cd19170
      Location:38123965
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    2. XM_030244217.2XP_030100077.1  histone-lysine N-methyltransferase 2A isoform X4

      UniProtKB/Swiss-Prot
      E9QNE7, P55200, Q3UEU1, Q3USE7
      Conserved Domains (10) summary
      cd05493
      Location:16461776
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:36623745
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14321478
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14801529
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15671623
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18691981
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05109
      Location:31483357
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02008
      Location:11441191
      zf-CXXC; CXXC zinc finger domain
      pfam05964
      Location:20222069
      FYRN; F/Y-rich N-terminus
      cd19170
      Location:38093962
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    3. XM_006510128.4XP_006510191.1  histone-lysine N-methyltransferase 2A isoform X3

      UniProtKB/Swiss-Prot
      E9QNE7, P55200, Q3UEU1, Q3USE7
      Conserved Domains (10) summary
      cd05493
      Location:16461776
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:36633746
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14321478
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14801529
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15671623
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18701982
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05109
      Location:31493358
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02008
      Location:11441191
      zf-CXXC; CXXC zinc finger domain
      pfam05964
      Location:20232070
      FYRN; F/Y-rich N-terminus
      cd19170
      Location:38103963
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    4. XM_011242442.4XP_011240744.1  histone-lysine N-methyltransferase 2A isoform X1

      UniProtKB/Swiss-Prot
      E9QNE7, P55200, Q3UEU1, Q3USE7
      Conserved Domains (10) summary
      cd05493
      Location:16491779
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:36653748
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14321478
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14801529
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15671626
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18721984
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05109
      Location:31513360
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02008
      Location:11441191
      zf-CXXC; CXXC zinc finger domain
      pfam05964
      Location:20252072
      FYRN; F/Y-rich N-terminus
      cd19170
      Location:38123965
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
    5. XM_036154819.1XP_036010712.1  histone-lysine N-methyltransferase 2A isoform X6

      Conserved Domains (9) summary
      cd05493
      Location:443573
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:24602543
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:226272
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:274323
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:361420
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:667779
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05109
      Location:19462155
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      cd19170
      Location:26072760
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
      pfam05964
      Location:820867
      FYRN; F/Y-rich N-terminus
    6. XM_011242444.4XP_011240746.1  histone-lysine N-methyltransferase 2A isoform X5

      UniProtKB/Swiss-Prot
      E9QNE7, P55200, Q3UEU1, Q3USE7
      Conserved Domains (9) summary
      cd05493
      Location:16491779
      Bromo_ALL-1; Bromodomain, ALL-1 like proteins. ALL-1 is a vertebrate homologue of Drosophila trithorax and is often affected in chromosomal rearrangements that are linked to acute leukemias, such as acute lymphocytic leukemia (ALL). Bromodomains are found in many ...
      smart00542
      Location:36663749
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14321478
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14801529
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15671626
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18731985
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05109
      Location:31523361
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam02008
      Location:11441191
      zf-CXXC; CXXC zinc finger domain
      pfam05964
      Location:20262073
      FYRN; F/Y-rich N-terminus

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001081049.1: Suppressed sequence

      Description
      NM_001081049.1: This RefSeq was removed because currently there is insufficient support for the transcript and protein.