PDE12

Chr 3p14.3

phosphodiesterase 12

Aliases:: DKFZp667B1218, 2'-PDE, 3635
MANE:: ENST00000311180.9

OMIM: 616519 ↗NCBI: 201626 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDE12 · Q6L8Q7

v62025-08-01

Predicted Aligned Error matrix for PDE12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.7/ 100

Confident

609 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)7%
Low(50–70)4%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

inborn mitochondrial metabolism disorder
0.50
mitochondrial disease
0.50
neurodegenerative disease
0.46
type 1 diabetes mellitus
0.05
atrial fibrillation
0.04
type 2 diabetes mellitus
0.04
gastric cancer
0.03
diabetes mellitus
0.03
cardiac arrhythmia
0.02
Arrhythmia
0.02

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

Protein function (UniProt)

2',5'-phosphodiesterase 12

Enzyme that cleaves 2',5'-phosphodiester bond linking adenosines of the 5'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. Degrades triphosphorylated 2-5A to produce AMP and ATP (PubMed:26055709). Also cleaves 3',5'-phosphodiester bond of oligoadenylates (PubMed:21666256, PubMed:26055709, PubMed:30389976). Plays a role as a negative regulator of the 2-5A system that is one of the major pathways for antiviral and antitumor functions induced by interferons (IFNs). Suppression of this enzyme increases cellular 2-5A levels and decreases viral replication in cultured small-airway epithelial cells and Hela cells (PubMed:26055709)