InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHOX2A

Summary

InnateDB Protein

IDBP-63361.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHOX2A

Protein Name

paired-like homeobox 2a

Synonyms

ARIX; CFEOM2; FEOM2; NCAM2; PMX2A;

Species

Homo sapiens

Ensembl Protein

ENSP00000298231

InnateDB Gene

IDBG-63359 (PHOX2A)

Protein Structure

UniProt Annotation

Function

May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00108}.

Disease Associations

Congenital fibrosis of extraocular muscles 2 (CFEOM2) [MIM:602078]: A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. {ECO:0000269PubMed:11600883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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