Homo sapiens Gene: PHOX2A
Summary
InnateDB Gene IDBG-63359.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PHOX2A
Gene Name paired-like homeobox 2a
Synonyms ARIX; CFEOM2; FEOM2; NCAM2; PMX2A;
Species Homo sapiens
Ensembl Gene ENSG00000165462
Encoded Proteins
paired-like homeobox 2a
paired-like homeobox 2a
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:72239077-72245664
Strand Reverse strand
Band q13.4
Transcripts
ENST00000298231 ENSP00000298231
ENST00000546310 ENSP00000444845
ENST00000544057
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
Biological Process
GO:0003357 noradrenergic neuron differentiation
GO:0006351 transcription, DNA-templated
GO:0021523 somatic motor neuron differentiation
GO:0021623 oculomotor nerve formation
GO:0021642 trochlear nerve formation
GO:0021703 locus ceruleus development
GO:0030901 midbrain development
GO:0043576 regulation of respiratory gaseous exchange
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048485 sympathetic nervous system development
GO:0048486 parasympathetic nervous system development
GO:0071542 dopaminergic neuron differentiation
Cellular Component
GO:0000790 nuclear chromatin
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.731565
RefSeq NM_005169
HUGO
OMIM
CCDS CCDS8214
HPRD 04129
IMGT
EMBL
GenPept
RNA Seq Atlas