PDE1B

Chr 12q13.2

phosphodiesterase 1B

MANE:: ENST00000243052.8

OMIM: 171891 ↗NCBI: 5153 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PDE1B · Q01064

v62025-08-01

Predicted Aligned Error matrix for PDE1B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.5/ 100

Confident

536 residues

Confidence breakdown

Very high(≥ 90)56%
Confident(70–90)14%
Low(50–70)10%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

coronary artery disorder
0.54
stroke disorder
0.53
movement disorder
0.48
intermittent vascular claudication
0.43
cardiovascular disorder
0.43
Hypertension
0.37
Recurrent thrombophlebitis
0.37
chronic kidney disease
0.37
alcoholic hepatitis
0.35
ischemic stroke
0.33

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

Protein function (UniProt)

Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B

Cyclic nucleotide phosphodiesterase with a dual specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15260978, PubMed:8855339, PubMed:9419816). Has a preference for cGMP as a substrate (PubMed:9419816)