PHOX2A

GENE INFORMATION

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Gene name

PHOX2A (HGNC Symbol)

Synonyms

ARIX, CFEOM2, FEOM2, PMX2A

Description

Paired-like homeobox 2a (HGNC Symbol)

Entrez gene 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]

Chromosome

11

Cytoband

q13.4

Chromosome location (bp)

72239077 - 72245664

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165462 (version 78.38)

Entrez gene

401

UniProt

O14813 (UniProt - Evidence at protein level)

neXtProt

NX_O14813

Antibodypedia

PHOX2A antibodies
 

PROTEIN VIEW

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PHOX2A-001
 
PHOX2A-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PHOX2A-001 ENSP00000298231
ENST00000298231
O14813
Show all »
Show » Show » 284 29.7 No 0
PHOX2A-002 ENSP00000444845
ENST00000546310
Show » Show » 85 8.7 No 0