Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PHOX2A contributors: - updated : 13-09-2007
HGNC name paired-like (aristaless) homeobox 2a
HGNC id 691
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
an helix-turn-helix and paired DNA binding domains
HOMOLOGY
interspecies homolog to Drosophila aristaless
Homologene
FAMILY
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus,chromatin/chromosome
basic FUNCTION
  • functioning as a transcriptional activator of the promoter of the dopamine beta hydroxylase (DBH)
  • involved in the midbrain motor nuclei development (III and IV)
  • participates in specifying the autonomic nervous system, and involved in the transcriptional control of the noradrenergic neurotransmitter phenotype as it regulates the gene expression of tyrosine hydroxylase and dopamine hydroxylase
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • mediating protein kinase stimulated dopamine beta-hydroxylase gene transcription
  • capable of regulating the transcription of the 3 nicotinic acetylcholine receptor gene (CHRNA3), which encodes the ligand-binding subunit of the ganglionic type nicotinic receptor
  • interacting with TLX2 (involved in the cascade leading to TLX2 transactivation and presumably in the intestinal neuronal differentiation)
    • cell & other
    REGULATION
    Other regulated by PMX2B
    ASSOCIATED DISORDERS
    corresponding disease(s) FEOM2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS