Version 5.4
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
IDBP-63361
paired-like homeobox 2a
IDBP-593754
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
ENSMUSG00000007946
View Gene Order
ENSBTAG00000019168
Not yet available
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

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca