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FLASH GENE
Symbol PHOX2A contributors: - updated : 13-09-2007
HGNC name paired-like (aristaless) homeobox 2a
HGNC id 691
Corresponding disease
FEOM2 congenital fibrosis of the extraocular muscles, 2
Location 11q13.3-q13.4      Physical location : 71.950.121 - 71.955.220
Synonym name
  • aristaless (Drosophila) homeobox
  • paired-like homeo domain gene ARIX
  • Synonym symbol(s) ARIX, NCAM2, PMX2A, MGC52227
    DNA
    TYPE functioning gene
    STRUCTURE 5.00 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   transcription factor
    text structure canonical Sp1 binding site and homeodomain transcription factors binding sites
    MAPPING cloned Y linked   status provisional
    Physical map
    DHCR7 11q13.2-q13.5 7-dehydrocholesterol reductase NADSYN1 11q13.2 NAD synthetase 1 LOC57830 11q13.2 UHS KerB KRN1 11q13.5 keratin, cuticle, ultrahigh sulphur 1 LOC390219 11 LOC390219 OR7E3P 11q13 olfactory receptor, family 7, subfamily E, member 3 pseudogene LOC255620 11q13.2 hypothetical gene supported by NM_030930; AY007125 OR7E4P 11p15 olfactory receptor, family 7, subfamily E, member 4 pseudogene FLJ10661 11q13.3 hypothetical protein FLJ10661 LOC283202 11q13.3 hypothetical LOC283202 OR7E10P 8p22 olfactory receptor, family 7, subfamily E, member 10 pseudogene RNF121 11q13.3 ring finger protein 121 IL18BP 11q13 interleukin 18 binding protein NUMA1 11q13.3-q13.5 nuclear mitotic apparatus protein 1 LOC220074 11q13.3 Hypothetical 55.1 kDa protein F09G8.5 in chromosome III FLJ20625 11q13.3 hypothetical protein FLJ20625 LOC390220 11 similar to Catechol-O-methyltransferase DKFZP564M082 11q13.3 DKFZP564M082 protein FOLR3 11q13 folate receptor 3 (gamma) LOC390221 11 similar to folate receptor 1 precursor LOC390222 11 hypothetical gene supported by U08471; Z32564; NM_000804 FOLR1 11q13.3-q13.5 folate receptor 1 (adult) FOLR2 11q13.3-q13.5 folate receptor 2 (fetal) INPPL1 11q23 inositol polyphosphate phosphatase-like 1 PHOX2A 11q13.3-q13.4 paired-like (aristaless) homeobox 2a LOC220077 11q13.3 hypothetical gene supported by AF229166 LOC390223 11 similar to Splicing factor U2AF 35 kDa subunit (U2 auxiliary factor 35 kDa subunit) (U2 snRNP auxiliary factor small subunit) SKD3 11q13.3 suppressor of potassium transport defect 3 ART2P 11q13 ADP-ribosyltransferase 2 pseudogene (RT6 antigen homolog, rat) PDE2A 11cen-q12.1 phosphodiesterase 2A, cGMP-stimulated CENTD2 11q13.3 centaurin, delta 2 STARD10 11q13 START domain containing 10 FLJ00012 11q13.3 hypothetical protein FLJ00012 KIAA0769 11q13.2 hypothetical protein FLJ00012
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue   
    Endocrineadrenal glandmedulla   
    Nervousbrain    
     nervecranial nerveoculomotor nerve  
     nervecranial nervetrochlear nerve  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousautonomous   
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text during neuronal differentiation
    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