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Description for Protein EPB42

erythrocyte membrane protein band 4.2
12 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TGC: Transglutaminase/protease-like homologues
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Protein 4.2, erythrocytic; E42P; Pallidin; P4.2; Erythrocyte membrane protein band 4.2; Erythrocyte surface protein band 4.2
    Approved Symbol:
    EPB42
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Hemolytic anemia, hereditary, due to protein 4.2-Lisboa(Pd);
  • Hemolytic anemia, hereditary, due to protein 4.2-Tozeur(Pd);
  • Spherocytosis, hereditary, due to protein 4.2-Hammersmith(Pd);
  • Spherocytosis, hereditary, due to protein 4.2-Notame(Pd);
  • Spherocytosis, hereditary, Japanese type(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01517 Entrez Gene ID: 2038 OMIM ID: 177070 Swissprot Accession: P16452;