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Protein Page:
PHOX2A (human)

PHOX2A 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. Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2). CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. Belongs to the paired homeobox family. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Cellular Component: nuclear chromatin
Molecular Function: transcription factor activity
Biological Process: regulation of respiratory gaseous exchange; sympathetic nervous system development; trochlear nerve formation; transcription, DNA-dependent; oculomotor nerve formation; somatic motor neuron differentiation; midbrain development; positive regulation of transcription from RNA polymerase II promoter; locus ceruleus development
Reference #:  O14813 (UniProtKB)
Alt. Names/Synonyms: aristaless homeobox homolog; Aristaless homeobox protein homolog; ARIX; arix homeodomain protein; ARIX1 homeodomain protein; CFEOM2; FEOM2; MGC52227; NCAM2; Paired mesoderm homeobox protein 2A; Paired-like homeobox 2A; PHOX2A; PHX2A; PMX2A
Gene Symbols: PHOX2A
Molecular weight: 29,653 Da
Basal Isoelectric point: 8.98  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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Sites Implicated In
transcription, inhibited: S153‑p, S206‑p
activity, inhibited: S153‑p
molecular association, regulation: S153‑p, S206‑p
phosphorylation: S202‑p, S206‑p, S208‑p

Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  

Show Multiple Sequence Alignment


SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


1 1 S202-p PPAPGLAsPRLsPsP
1 1 S206-p GLAsPRLsPsPLPVA
1 1 S208-p AsPRLsPsPLPVALG

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