PHOX2A

Chr 11q13.4

paired like homeobox 2A

Aliases:: PMX2A, CFEOM2
MANE:: ENST00000298231.5

OMIM: 602753 ↗NCBI: 401 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PHOX2A · O14813

v62025-08-01

Predicted Aligned Error matrix for PHOX2A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.7/ 100

Low

284 residues

Confidence breakdown

Very high(≥ 90)19%
Confident(70–90)7%
Low(50–70)45%
Very low(< 50)29%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital fibrosis of the extraocular muscles
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital fibrosis of the extraocular muscles
0.61
congenital fibrosis of extraocular muscles
0.46
neurodegenerative disease
0.42
Parkinson disease
0.26
Alzheimer disease
0.25
lysosomal storage disease
0.25
multiple sclerosis
0.25
hereditary disease
0.19
Congenital pulmonary alveolar proteinosis
0.10
Neonatal acute respiratory distress with surfactant metabolism deficiency
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Paired mesoderm homeobox protein 2A

May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype (By similarity)