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    Kmt2a lysine methyltransferase 2A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 315606, updated on 9-Dec-2024

    Summary

    Official Symbol
    Kmt2aprovided by RGD
    Official Full Name
    lysine methyltransferase 2Aprovided by RGD
    Primary source
    RGD:1586165
    See related
    EnsemblRapid:ENSRNOG00000015133 AllianceGenome:RGD:1586165
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Mll; Mll1
    Summary
    Enables DNA-binding transcription factor binding activity. Involved in several processes, including cellular response to transforming growth factor beta stimulus; membrane depolarization; and response to potassium ion. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of MLL1 complex. Used to study transient cerebral ischemia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; cervical cancer; myelofibrosis; and non-Hodgkin lymphoma. Orthologous to human KMT2A (lysine methyltransferase 2A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 139.5), Spleen (RPKM 125.5) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Kmt2a in Genome Data Viewer
    Location:
    8q22
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 8 NC_086026.1 (54013547..54089219, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 8 NC_051343.1 (45116763..45193320, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 8 NC_005107.4 (49110407..49185872, complement)

    Chromosome 8 - NC_086026.1Genomic Context describing neighboring genes Neighboring gene transmembrane protein 25 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene U2 spliceosomal RNA Neighboring gene U6atac minor spliceosomal RNA Neighboring gene transfer RNA serine (anticodon AGA) 38

    Genomic regions, transcripts, and products

    Bibliography

    General gene information

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA binding  
    enables DNA-binding transcription factor binding  
    enables chromatin binding  
    enables histone H3K4 methyltransferase activity  
    enables histone H3K4 methyltransferase activity  
    enables histone H3K4 monomethyltransferase activity  
    enables histone H3K4 trimethyltransferase activity  
    enables identical protein binding  
    enables lysine-acetylated histone binding  
    enables protein homodimerization activity  
    enables protein-cysteine methyltransferase activity  
    enables unmethylated CpG binding  
    enables zinc ion binding  
    Items 1 - 25 of 31
    Process Evidence Code Pubs
    involved_in T-helper 2 cell differentiation  
    acts_upstream_of_or_within anterior/posterior pattern specification  
    involved_in cellular response to transforming growth factor beta stimulus PubMed 
    involved_in circadian regulation of gene expression  
    acts_upstream_of_or_within cognition  
    involved_in definitive hemopoiesis  
    acts_upstream_of_or_within embryonic hemopoiesis  
    acts_upstream_of_or_within epigenetic regulation of gene expression  
    acts_upstream_of_or_within exploration behavior  
    acts_upstream_of fibroblast proliferation  
    acts_upstream_of_or_within homeostasis of number of cells within a tissue  
    involved_in membrane depolarization PubMed 
    involved_in methylation  
    involved_in negative regulation of DNA methylation-dependent heterochromatin formation  
    acts_upstream_of_or_within negative regulation of fibroblast proliferation  
    acts_upstream_of_or_within peptidyl-lysine monomethylation  
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of DNA-templated transcription  
    involved_in positive regulation of gene expression PubMed 
    acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II  
    involved_in positive regulation of transcription by RNA polymerase II  
    acts_upstream_of_or_within post-embryonic development  
    involved_in protein modification process PubMed 
    involved_in protein-containing complex assembly  
    acts_upstream_of_or_within regulation of gene expression  
    acts_upstream_of_or_within regulation of short-term neuronal synaptic plasticity  
    acts_upstream_of_or_within response to light stimulus  
    involved_in response to potassium ion PubMed 
    acts_upstream_of_or_within spleen development  
    involved_in transcription initiation-coupled chromatin remodeling  
    acts_upstream_of_or_within visual learning  
    Items 1 - 25 of 31
    Component Evidence Code Pubs
    part_of MLL1 complex  
    located_in cytosol  
    located_in cytosol  
    part_of histone methyltransferase complex  
    part_of histone methyltransferase complex  
    located_in nucleoplasm  
    located_in nucleus  

    General protein information

    Preferred Names
    histone-lysine N-methyltransferase 2A
    Names
    Mixed-lineage leukemia (also acute lymphocytic leukemia 1 or trithorax Drosophila gene)
    Mixed-lineage leukemia (also acute lymphocytic leukemia 1 or tritorax Drosophila gene)
    histone-lysine N-methyltransferase MLL
    lysine (K)-specific methyltransferase 2A
    myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
    myeloid/lymphoid or mixed-lineage leukemia 1
    NP_001101609.2
    NP_001406869.1
    XP_038938273.1
    XP_038938274.1
    XP_038938275.1
    XP_038938276.1
    XP_063121504.1
    XP_063121505.1
    XP_063121506.1
    XP_063121507.1

    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_001108139.2NP_001101609.2  histone-lysine N-methyltransferase 2A isoform 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6J416
    2. NM_001419940.1NP_001406869.1  histone-lysine N-methyltransferase 2A isoform 2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000008
      UniProtKB/TrEMBL
      A6J416

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086026.1 Reference GRCr8

      Range
      54013547..54089219 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039082348.2XP_038938276.1  histone-lysine N-methyltransferase 2A isoform X6

      UniProtKB/TrEMBL
      A6J416
      Conserved Domains (9) summary
      cd05493
      Location:9381068
      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:29563039
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:721767
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:769818
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:856915
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:11621274
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam02008
      Location:415462
      zf-CXXC; CXXC zinc finger domain
      cd19170
      Location:31033256
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
      pfam05964
      Location:13151362
      FYRN; F/Y-rich N-terminus
    2. XM_039082347.2XP_038938275.1  histone-lysine N-methyltransferase 2A isoform X3

      UniProtKB/TrEMBL
      A6J416
      Conserved Domains (9) summary
      cd05493
      Location:16671797
      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:36853768
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14511497
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14991547
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15851644
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18912003
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam02008
      Location:11451192
      zf-CXXC; CXXC zinc finger domain
      cd19170
      Location:38323985
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
      pfam05964
      Location:20442091
      FYRN; F/Y-rich N-terminus
    3. XM_063265435.1XP_063121505.1  histone-lysine N-methyltransferase 2A isoform X5

      UniProtKB/TrEMBL
      A6J416
    4. XM_063265434.1XP_063121504.1  histone-lysine N-methyltransferase 2A isoform X4

      UniProtKB/TrEMBL
      A6J416
      Related
      ENSRNOP00000103868.1, ENSRNOT00000140833.1
    5. XM_039082346.2XP_038938274.1  histone-lysine N-methyltransferase 2A isoform X2

      UniProtKB/TrEMBL
      A6J416
      Conserved Domains (9) summary
      cd05493
      Location:16681798
      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:36853768
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14511497
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14991548
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15861645
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18922004
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam02008
      Location:11451192
      zf-CXXC; CXXC zinc finger domain
      cd19170
      Location:38323985
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
      pfam05964
      Location:20452092
      FYRN; F/Y-rich N-terminus
    6. XM_039082345.2XP_038938273.1  histone-lysine N-methyltransferase 2A isoform X1

      UniProtKB/TrEMBL
      A6J416, F1M0L3
      Related
      ENSRNOP00000020573.7, ENSRNOT00000020573.8
      Conserved Domains (9) summary
      cd05493
      Location:16681798
      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:36863769
      FYRC; FY-rich domain, C-terminal region
      cd15588
      Location:14511497
      PHD1_KMT2A; PHD finger 1 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15590
      Location:14991548
      PHD2_KMT2A; PHD finger 2 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15592
      Location:15861645
      PHD3_KMT2A; PHD finger 3 found in histone-lysine N-methyltransferase 2A (KMT2A)
      cd15693
      Location:18922004
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam02008
      Location:11451192
      zf-CXXC; CXXC zinc finger domain
      cd19170
      Location:38333986
      SET_KMT2A_2B; SET domain (including post-SET domain) found in histone-lysine N-methyltransferase 2A (KMT2A), 2B (KMT2B) and similar proteins
      pfam05964
      Location:20452092
      FYRN; F/Y-rich N-terminus
    7. XM_063265437.1XP_063121507.1  histone-lysine N-methyltransferase 2A isoform X8

      UniProtKB/TrEMBL
      A6J416
    8. XM_063265436.1XP_063121506.1  histone-lysine N-methyltransferase 2A isoform X7

      UniProtKB/TrEMBL
      A6J416
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