Entity Details

Primary name PHX2A_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14813
EntryNamePHX2A_HUMAN
FullNamePaired mesoderm homeobox protein 2A
TaxID9606
Evidenceevidence at protein level
Length284
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesPHOX2A

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

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site

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.