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Description for Protein PHOX2A

paired-like homeobox 2a
6 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09330
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Aristaless homeobox protein homolog; ARIX1 homeodomain protein; Paired mesoderm homeobox protein 2A; Paired-like homeobox 2A; ARIX
    Approved Symbol:
    PHOX2A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; 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:

  • Fibrosis of extraocular muscles, congenital, 2(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 04129 Entrez Gene ID: 401 OMIM ID: 602753 Swissprot Accession: O14813;