PHOX2A paired-like homeobox 2a [Homo sapiens (human)]
| Gene Symbol | PHOX2A |
| Entrez Gene ID | 401 |
| Full Name | paired-like homeobox 2a |
| Synonyms | ARIX, CFEOM2, FEOM2, MGC52227, NCAM2, PMX2A |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
11 11q13.2 |
| 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]. |
| Disorder | MIM: 602753 Fibrosis of extraocular muscles, congenital, 2, 602078 (3) |
| mRNA | NM_005169, 188536104 |
| Protein | NP_005160, 46249382 |
| Product | paired mesoderm homeobox protein 2A |
| RefSeq Status | REVIEWED |
| WP706 | SIDS Susceptibility Pathways |
| Homo sapiens (human) | PHOX2A | NP_005160.2 |
| Canis lupus familiaris (dog) | PHOX2A | XP_542326.2 |
| Bos taurus (cattle) | PHOX2A | XP_584327.2 |
| Mus musculus (house mouse) | Phox2a | NP_032913.1 |
| Rattus norvegicus (Norway rat) | Phox2a | NP_446321.1 |
| Danio rerio (zebrafish) | phox2a | NP_996953.1 |
| ID | Name | Evidence |
| GO:0006351 | transcription, DNA-dependent | NAS |
| GO:0006355 | regulation of transcription, DNA-dependent | IEA |
| GO:0007568 | aging | IEA |
| GO:0021523 | somatic motor neuron differentiation | IEA |
| GO:0021703 | locus ceruleus development | IEA |
| GO:0043576 | regulation of respiratory gaseous exchange | IEA |
| GO:0048485 | sympathetic nervous system development | IEA |
| GO:0048486 | parasympathetic nervous system development | IEA |
Component
| ID | Name | Evidence |
| GO:0005634 | nucleus | IEA |
Function
| ID | Name | Evidence |
| GO:0003700 | sequence-specific DNA binding transcription factor activity | IEA |
| GO:0043565 | sequence-specific DNA binding | IEA |
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