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Description for Protein MLL2

myeloid/lymphoid or mixed-lineage leukemia 2
13 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PHD: PHD zinc finger
  • HMG: high mobility group
  • CC: Coiled Coil
  • FYRN: "FY-rich" domain, N-terminal region
  • FYRC: "FY-rich" domain, C-terminal region
  • SET: SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09187
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ALR; ALL1 related gene
    Approved Symbol:
    MLL2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 61
    Human (de-) phosphorylation sites: 61; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03664 Entrez Gene ID: 8085 OMIM ID: 602113 Swissprot Accession: O14686; Q59FG6; Q6PIA1;