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    Kmt2d lysine methyltransferase 2D [ Rattus norvegicus (Norway rat) ]

    Gene ID: 100362634, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Kmt2dprovided by RGD
    Official Full Name
    lysine methyltransferase 2Dprovided by RGD
    Primary source
    RGD:2324324
    See related
    EnsemblRapid:ENSRNOG00000061499 AllianceGenome:RGD:2324324
    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
    Mll2
    Summary
    Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific; histone H3K4 methyltransferase activity; and transcription cis-regulatory region binding activity. Predicted to be involved in several processes, including oocyte growth; positive regulation of intracellular estrogen receptor signaling pathway; and regulation of gene expression. Predicted to act upstream of or within in utero embryonic development and regulation of gene expression. Predicted to be part of MLL3/4 complex. Human ortholog(s) of this gene implicated in Kabuki syndrome; carcinoma (multiple); and intracranial aneurysm. Orthologous to human KMT2D (lysine methyltransferase 2D). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Adrenal (RPKM 108.9), Spleen (RPKM 99.7) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Kmt2d in Genome Data Viewer
    Location:
    7q36
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 7 NC_086025.1 (131859696..131901032, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 7 NC_051342.1 (129980744..130022088, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 7 NC_005106.4 (140507137..140542479, complement)

    Chromosome 7 - NC_086025.1Genomic Context describing neighboring genes Neighboring gene tubulin, alpha 1C Neighboring gene protein kinase AMP-activated non-catalytic subunit gamma 1 Neighboring gene dendrin Neighboring gene RHEB like 1 Neighboring gene desert hedgehog signaling molecule

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Oxidative stress abrogates the degradation of KMT2D to promote degeneration in nucleus pulposus. Xu W, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Oct 1. PMID 32599142
    2. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Micale L, et al. Hum Mutat, 2014 Jul. PMID 24633898, Free PMC Article
    3. Epigenetic Role of Histone 3 Lysine Methyltransferase and Demethylase in Regulating Apoptosis Predicting the Recurrence of Atypical Meningioma. Lee SH, et al. J Korean Med Sci, 2015 Aug. PMID 26240495, Free PMC Article
    4. The strong association of left-side heart anomalies with Kabuki syndrome. Yoon JK, et al. Korean J Pediatr, 2015 Jul. PMID 26300940, Free PMC Article
    5. Histone acetylation and methylation significantly change with severity of atherosclerosis in human carotid plaques. Greißel A, et al. Cardiovasc Pathol, 2016 Mar-Apr. PMID 26764138

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone H3K4 methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone H3K4 methyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone H3K4 trimethyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within in utero embryonic development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oocyte growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in oogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of intracellular estrogen receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in response to estrogen ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of MLL3/4 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of MLL3/4 complex ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    histone-lysine N-methyltransferase 2D
    Names
    lysine (K)-specific methyltransferase 2D
    myeloid/lymphoid or mixed-lineage leukemia 2
    NP_001414238.1
    XP_017450810.1
    XP_063118908.1
    XP_063118909.1
    XP_063118910.1
    XP_063118911.1
    XP_063118912.1
    XP_063118913.1
    XP_063118914.1
    XP_063118915.1
    XP_063118916.1
    XP_063118917.1
    XP_063118918.1

    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_001427309.1 → NP_001414238.1  histone-lysine N-methyltransferase 2D

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000007
      UniProtKB/TrEMBL
      A0A8I5ZVL8
      Related
      ENSRNOP00000081837.2, ENSRNOT00000111826.2

    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_086025.1 Reference GRCr8

      Range
      131859696..131901032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063262841.1 → XP_063118911.1  histone-lysine N-methyltransferase 2D isoform X4

    2. XM_063262839.1 → XP_063118909.1  histone-lysine N-methyltransferase 2D isoform X2

    3. XM_063262848.1 → XP_063118918.1  histone-lysine N-methyltransferase 2D isoform X12

    4. XM_063262842.1 → XP_063118912.1  histone-lysine N-methyltransferase 2D isoform X5

    5. XM_063262847.1 → XP_063118917.1  histone-lysine N-methyltransferase 2D isoform X10

    6. XM_063262845.1 → XP_063118915.1  histone-lysine N-methyltransferase 2D isoform X8

    7. XM_063262844.1 → XP_063118914.1  histone-lysine N-methyltransferase 2D isoform X7

    8. XM_063262840.1 → XP_063118910.1  histone-lysine N-methyltransferase 2D isoform X3

    9. XM_063262838.1 → XP_063118908.1  histone-lysine N-methyltransferase 2D isoform X1

    10. XM_017595321.3 → XP_017450810.1  histone-lysine N-methyltransferase 2D isoform X11

      UniProtKB/TrEMBL
      A0A0G2JVD6
      Related
      ENSRNOP00000069442.2, ENSRNOT00000077502.3
      Conserved Domains (11) summary
      smart00398
      Location:1979 → 2030
      HMG; high mobility group
      smart00542
      Location:5247 → 5334
      FYRC; FY-rich domain, C-terminal region
      smart00317
      Location:5404 → 5526
      SET; SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
      cd15509
      Location:228 → 273
      PHD1_KMT2C_like; PHD finger 1 found in Histone-lysine N-methyltransferase 2C (KMT2C) and 2D (KMT2D)
      cd15513
      Location:1386 → 1432
      PHD5_KMT2C_like; PHD finger 5 found in Histone-lysine N-methyltransferase 2C (KMT2C) and PHD finger 4 found in KMT2D
      cd15597
      Location:1335 → 1385
      PHD3_KMT2D; PHD finger 3 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15601
      Location:1463 → 1513
      PHD5_KMT2D; PHD finger 5 found in Histone-lysine N-methyltransferase 2D (KMT2D)
      cd15695
      Location:134 → 217
      ePHD1_KMT2D; Extended PHD finger 1 found in histone-lysine N-methyltransferase 2D (KMT2D)
      cd15698
      Location:5039 → 5145
      ePHD2_KMT2D; Extended PHD finger 2 found in histone-lysine N-methyltransferase 2D (KMT2D)
      pfam05964
      Location:5189 → 5239
      FYRN; F/Y-rich N-terminus
      cl22851
      Location:275 → 320
      PHD_SF; PHD finger superfamily

    11. XM_063262843.1 → XP_063118913.1  histone-lysine N-methyltransferase 2D isoform X6

    12. XM_063262846.1 → XP_063118916.1  histone-lysine N-methyltransferase 2D isoform X9

    Nucleotide Protein Strain
    Heading Accession and Version

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