ZFIN ID: ZDB-GENE-060223-2
Gene Name: lysine (K)-specific methyltransferase 2D
Gene Symbol: kmt2d    Nomenclature History

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Previous Names: mll2, im:7157663

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 23 Mapping Details/Browsers
Description: Predicted to have histone binding activity; histone methyltransferase activity (H3-K4 specific); and transcription coactivator activity. Involved in animal organ development and convergent extension involved in gastrulation. Predicted to localize to the MLL3/4 complex. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome and esophagus squamous cell carcinoma. Orthologous to human KMT2D (lysine methyltransferase 2D).
Genome Resources: Alliance (1),  Gene:100536523 (1),  Ensembl(GRCz11):ENSDARG00000037060 (2)
GENE EXPRESSION
All Expression Data: 2 figures from 2 publications
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:7157663]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Hatching:Pec-fin (60.0h-72.0h)
 
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la014386Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la022616Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • la022617Tg Transgenic Insertion Unknown Unknown DNA
    rdu1001 Small Deletion Exon 6 Frameshift, Premature Stop CRISPR
    sa5980 Point Mutation Unknown Premature Stop ENU
    sa10227 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa14115 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa16818 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24354 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa24355 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa29947 Point Mutation Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa29948 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa32447 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37732 Point Mutation Unknown Unknown ENU
    sa37733 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37734 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37735 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39411 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43996 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43997 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa43998 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45804 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • DISEASE ASSOCIATED WITH kmt2d HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Kabuki syndrome Alliance Kabuki syndrome 1 147920
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process convergent extension (more)
    Cellular Component histone methyltransferase complex (more)
    Molecular Function histone-lysine N-methyltransferase activity (more)
    GO Terms (all 16)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR001214 SET domain
    Domain IPR001841 Zinc finger, RING-type
    Domain IPR001965 Zinc finger, PHD-type
    Domain IPR003616 Post-SET domain
    Domain IPR003888 FY-rich, N-terminal
    Domain IPR003889 FY-rich, C-terminal
    Homologous_superfamily IPR011011 Zinc finger, FYVE/PHD-type
    Homologous_superfamily IPR013083 Zinc finger, RING/FYVE/PHD-type
    Domain IPR019787 Zinc finger, PHD-finger
    Domain IPR034732 Extended PHD (ePHD) domain
    Family IPR037890 Histone-lysine N-methyltransferase 2D
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA kmt2d-202 (1)    Ensembl 1382
    kmt2d-203 (1)    Ensembl 704
    kmt2d-204 (1)    Ensembl 1217
    kmt2d-205 (1)    Ensembl 1612
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM kmt2d No data available
    MARKER RELATIONSHIPS
    kmt2d Contained in: [BAC] CH73-367E20, CH211-169D8 (1), DKEY-166N8 (1) (order this)
    kmt2d Encodes: [EST] IMAGE:7157663 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_009296953 (1)
    Genomic GenBank:CR352210 (1) 180924 bp
    Select Tool
    Polypeptide UniProtKB:E7F2F7 (1) 3325 aa
    Sequence Information (all 26)
    ORTHOLOGY for kmt2d ( Chr: 23 )
    CITATIONS (32)