Entity Details

Primary name PHOX2A
Entity type gene
Source Source Link

Details

PrimaryID401
RefseqGeneNG_008169
SymbolPHOX2A
Namepaired like homeobox 2A
Chromosome11
Location11q13.4
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-25
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPHX2A_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0003357 noradrenergic neuron differentiation
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
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 by RNA polymerase II
GO:0048484 enteric nervous system development
GO:0048485 sympathetic nervous system development
GO:0071542 dopaminergic neuron differentiation
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
602078 OMIMFibrosis of extraocular muscles, congenital, 2 (CFEOM2)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. The disease is caused by variants affecting the gene represented in this entry.