PDE2A

Chr 11q13.4

phosphodiesterase 2A

MANE:: ENST00000334456.10

OMIM: 602658 ↗NCBI: 5138 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDE2A · O00408

v62025-08-01

Predicted Aligned Error matrix for PDE2A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.7/ 100

Confident

941 residues

Confidence breakdown

Very high(≥ 90)52%
Confident(70–90)34%
Low(50–70)4%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intellectual developmental disorder with paroxysmal dyskinesia or seizures
0.68
coronary artery disorder
0.55
stroke disorder
0.53
intermittent vascular claudication
0.43
cardiovascular disorder
0.43
hereditary disease
0.42
insomnia
0.39
Hypertension
0.37
Recurrent thrombophlebitis
0.37
chronic kidney disease
0.37

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

Protein function (UniProt)

cGMP-dependent 3',5'-cyclic phosphodiesterase

cGMP-activated cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15938621, PubMed:29392776, PubMed:9210593). Has a higher efficiency with cGMP compared to cAMP (PubMed:15938621). Plays a role in cell growth and migration (PubMed:24705027)