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Description for Protein SETD2

SET domain containing 2
5 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 1)
Summary:
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SET: SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
  • CC: Coiled Coil
  • WW: Domain with 2 conserved Trp (W) residues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    2.1.1.43
    KEGG - Orthology:
    K11423
    KEGG - Pathway(s):
    hsa00310
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    HIF1; FLJ22472; KIAA1732; HSPC069; Huntingtin interacting protein HYPB; HYPB; Huntingtin interacting protein B isoform 1
    Approved Symbol:
    SETD2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 76
    Human (de-) phosphorylation sites: 76; 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 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 11043 Entrez Gene ID: 29072 OMIM ID: 612778 Swissprot Accession: Q9BYW2;