PHOX2A
Identifiers
Aliases	PHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a
External IDs	OMIM: 602753 MGI: 106633 HomoloGene: 31296 GeneCards: PHOX2A
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.4 Start 72,239,077 bp[1] End 72,245,664 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 E2|7 54.66 cM Start 101,467,520 bp[2] End 101,471,933 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cecum appendix superior vestibular nucleus gastric mucosa right adrenal gland transverse colon muscle tissue face rectum left adrenal gland Top expressed in superior cervical ganglion external carotid artery enteric nervous system female urethra internal carotid artery adrenal gland parasympathetic nervous system inferior ganglion of vagus nerve carotid body pharynx More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process somatic motor neuron differentiation parasympathetic nervous system development regulation of respiratory gaseous exchange dopaminergic neuron differentiation noradrenergic neuron differentiation locus ceruleus development trochlear nerve formation regulation of transcription, DNA-templated sympathetic nervous system development oculomotor nerve formation transcription, DNA-templated midbrain development positive regulation of transcription by RNA polymerase II nervous system development autonomic nervous system development enteric nervous system development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 401 11859 Ensembl ENSG00000165462 ENSMUSG00000007946 UniProt O14813 Q62066 RefSeq (mRNA) NM_005169 NM_008887 RefSeq (protein) NP_005160 NP_032913 Location (UCSC) Chr 11: 72.24 – 72.25 Mb Chr 7: 101.47 – 101.47 Mb PubMed search [3] [4]
Wikidata
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Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.^[5][6][7]

Function

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).^[7]

Interactions

PHOX2A has been shown to interact with HAND2.^[8]