CNP

Chr 17q21.2

2',3'-cyclic nucleotide 3' phosphodiesterase

Aliases:: CN37
MANE:: ENST00000393892.8

OMIM: 123830 ↗NCBI: 1267 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CNP · P09543

v62025-08-01

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

Mean pLDDT

87.3/ 100

Confident

421 residues

Confidence breakdown

Very high(≥ 90)74%
Confident(70–90)14%
Low(50–70)2%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

myopia 2, autosomal dominant
0.50
leukodystrophy, hypomyelinating, 20
0.44
Abnormality of the skeletal system
0.15
achondroplasia
0.13
marfanoid habitus and intellectual disability
0.12
pulmonary arterial hypertension
0.08
Obesity
0.08
obesity due to melanocortin 4 receptor deficiency
0.08
obesity disorder
0.08
pancreatic neoplasm
0.08

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

Protein function (UniProt)

2',3'-cyclic-nucleotide 3'-phosphodiesterase

Myelin-associated enzyme that catalyzes the phosphodiester hydrolysis of 2',3'-cyclic nucleotides to 2'-nucleotides. In the mitochondria, regulates the functioning of the mitochondrial permeability transition pore (mPTP), and thus is involved in the mechanisms of cell death, both apoptosis and necrosis. Acts as an antiviral factor by suppressing the assembly of SARS-CoV-2 virions (PubMed:38117830)