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Description for Protein NKX2-5

NK2 transcription factor related, locus 5 (Drosophila)
15 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 2)
Summary:
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09345
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    CSX; NKX2E; Homeobox protein NKX 2.5
    Approved Symbol:
    NKX2-5
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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:

  • Atrial septal defect with atrioventricular conduction defects(Pd);
  • Atrial septal defect with atrioventricular conduction defects, somatic(Pd);
  • Atrioventricular block, idiopathic second-degree(Pd);
  • Tetralogy of fallot(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02787 Entrez Gene ID: 1482 OMIM ID: 600584 Swissprot Accession: P52952; B4DNB6;