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PHOX2A paired-like homeobox 2a [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_005169 Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA. GenEZ ORF Cloning On-demand TBD TBD

*Business Day

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Gene Symbol PHOX2A
Entrez Gene ID 401
Full Name paired-like homeobox 2a
Synonyms ARIX, CFEOM2, FEOM2, NCAM2, PMX2A
General protein information
Preferred Names
paired mesoderm homeobox protein 2A
Names
paired mesoderm homeobox protein 2A
arix homeodomain protein
ARIX1 homeodomain protein
aristaless homeobox homolog
aristaless homeobox protein homolog
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, Jul 2008].
Disorder

MIM: 602753

Fibrosis of extraocular muscles, congenital, 2, 602078 (3)

mRNA Protein Product Sequence Price Select
NM_005169, 188536104 NP_005160, 46249382 paired mesoderm homeobox protein 2A ORF Sequence $300.00
WikiPathways
WP706SIDS Susceptibility Pathways
Homo sapiens (human)PHOX2ANP_005160.2
Canis lupus familiaris (dog)PHOX2AXP_542326.2
Bos taurus (cattle)PHOX2ANP_001179086.1
Mus musculus (house mouse)Phox2aNP_032913.1
Rattus norvegicus (Norway rat)Phox2aNP_446321.1
Danio rerio (zebrafish)phox2aNP_996953.1
Xenopus (Silurana) tropicalis (western clawed frog)phox2aNP_001239128.1
Process
IDNameEvidence
GO:0003357noradrenergic neuron differentiationIC
GO:0003357noradrenergic neuron differentiationNAS
GO:0006351transcription, DNA-templatedIEA
GO:0021523somatic motor neuron differentiationIEA
GO:0021623oculomotor nerve formationIEA
GO:0021642trochlear nerve formationIEA
GO:0021703locus ceruleus developmentIEA
GO:0030901midbrain developmentIEA
GO:0043576regulation of respiratory gaseous exchangeIEA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIMP
GO:0048485sympathetic nervous system developmentIEA
GO:0071542dopaminergic neuron differentiationIC
Component
IDNameEvidence
GO:0000790nuclear chromatinIDA
Function
IDNameEvidence
GO:0000977RNA polymerase II regulatory region sequence-specific DNA bindingIDA
GO:0003700sequence-specific DNA binding transcription factor activityIEA
GeneCards PHOX2A
UniProt O14813
Vega OTTHUMG00000167899
MIM 602753
Ensembl ENSG00000165462
HGNC 691
HPRD 04129

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the PHOX2A gene?

The PHOX2A gene provides instructions for making a protein that is found in the nervous system. This protein acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation).

Most of researchers' knowledge about the PHOX2A protein comes from studies in other animals. From these studies, it is clear that the protein plays a critical role in the development of the autonomic nervous system, which controls involuntary body functions such as breathing, blood pressure, heart rate, and digestion. The PHOX2A protein is also involved in the formation of certain nerves in the head and face. Specifically, it appears to be critical for the development and function of cranial nerves III and IV, which emerge from the brain and control many of the muscles that surround the eyes (extraocular muscles). These muscles direct eye movement and determine the position of the eyes.

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