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

    Gene ID: 214162, updated on 18-Nov-2017
    Official Symbol
    Kmt2aprovided by MGI
    Official Full Name
    lysine (K)-specific methyltransferase 2Aprovided by MGI
    Primary source
    MGI:MGI:96995
    See related
    Ensembl:ENSMUSG00000002028 Vega:OTTMUSG00000021055
    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
    Orthologs
    Location:
    9 A5.2; 9 24.84 cM
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (44803355..44881298, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (44611438..44689357, complement)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene transmembrane protein 25 Neighboring gene tetratricopeptide repeat domain 36 Neighboring gene predicted gene, 30816 Neighboring gene predicted gene, 46109 Neighboring gene predicted gene, 39326 Neighboring gene predicted gene, 30883 Neighboring gene ATP synthase, H+ transporting, mitochondrial F0 complex, subunit G

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA4050

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    core promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase activity (H3-K4 specific) ISO
    Inferred from Sequence Orthology
    more info
     
    histone-lysine N-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    lysine-acetylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    transcription regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    unmethylated CpG binding ISO
    Inferred from Sequence Orthology
    more info
     
    zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    DNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    anterior/posterior pattern specification IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    circadian regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    definitive hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H3-K4 dimethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H3-K4 methylation ISO
    Inferred from Sequence Orthology
    more info
     
    histone H3-K4 trimethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H3-K4 trimethylation ISO
    Inferred from Sequence Orthology
    more info
     
    histone H4-K16 acetylation ISO
    Inferred from Sequence Orthology
    more info
     
    homeostasis of number of cells within a tissue IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    methylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-lysine monomethylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cellular response to drug ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    post-embryonic development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of histone H3-K14 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of histone H3-K27 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of histone H3-K9 acetylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of short-term neuronal synaptic plasticity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    response to light stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    spleen development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    visual learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    MLL1 complex ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    histone methyltransferase complex ISO
    Inferred from Sequence Orthology
    more info
     
    nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    histone-lysine N-methyltransferase 2A
    Names
    histone-lysine N-methyltransferase MLL
    lysine N-methyltransferase 2A
    myeloid/lymphoid or mixed-lineage leukemia 1
    myeloid/lymphoid or mixed-lineage leukemia protein 1
    trithorax Drosophila
    zinc finger protein HRX
    NP_001074518.1
    XP_006510191.1
    XP_011240743.1
    XP_011240744.1
    XP_011240745.1
    XP_011240746.1

    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_001081049.1NP_001074518.1  histone-lysine N-methyltransferase 2A isoform 2

      Status: PROVISIONAL

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC061963, AC142113
      Consensus CDS
      CCDS40603.1
      UniProtKB/Swiss-Prot
      P55200
      Related
      ENSMUSP00000002095.3, OTTMUSP00000080044, ENSMUST00000002095.10, OTTMUST00000154963
      Conserved Domains (11) 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
      smart00317
      Location:38253945
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      smart00508
      Location:39473963
      PostSET; Cysteine-rich motif following a subset of SET domains
      COG2940
      Location:38113963
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      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: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)
      pfam05964
      Location:20242070
      FYRN; F/Y-rich N-terminus
    2. NM_001357549.1NP_001344478.1  histone-lysine N-methyltransferase 2A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC061963, AC142113
      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: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      44803355..44881298 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510128.2XP_006510191.1  histone-lysine N-methyltransferase 2A isoform X4

      Conserved Domains (11) 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
      smart00317
      Location:38253945
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      smart00508
      Location:39473963
      PostSET; Cysteine-rich motif following a subset of SET domains
      COG2940
      Location:38113963
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      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: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)
      pfam05964
      Location:20242070
      FYRN; F/Y-rich N-terminus
    2. XM_011242443.2XP_011240745.1  histone-lysine N-methyltransferase 2A isoform X3

      Conserved Domains (11) 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
      smart00317
      Location:38273947
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      smart00508
      Location:39493965
      PostSET; Cysteine-rich motif following a subset of SET domains
      COG2940
      Location:38133965
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      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: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)
      pfam05964
      Location:20262072
      FYRN; F/Y-rich N-terminus
    3. XM_011242442.2XP_011240744.1  histone-lysine N-methyltransferase 2A isoform X2

      Conserved Domains (11) 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
      smart00317
      Location:38273947
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      smart00508
      Location:39493965
      PostSET; Cysteine-rich motif following a subset of SET domains
      COG2940
      Location:38133965
      SET; SET domain-containing protein (function unknown) [General function prediction only]
      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:18721984
      ePHD_KMT2A; Extended PHD finger found in histone-lysine N-methyltransferase 2A (KMT2A)
      pfam05964
      Location:20262072
      FYRN; F/Y-rich N-terminus
    4. XM_011242441.2XP_011240743.1  histone-lysine N-methyltransferase 2A isoform X1

      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)
    5. XM_011242444.2XP_011240746.1  histone-lysine N-methyltransferase 2A isoform X5

      Conserved Domains (8) 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
      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:20272073
      FYRN; F/Y-rich N-terminus
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