ENPP5

Chr 6p21.1

ectonucleotide pyrophosphatase/phosphodiesterase family member 5

MANE:: ENST00000371383.7

OMIM: 617001 ↗NCBI: 59084 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ENPP5 · Q9UJA9

v62025-08-01

Predicted Aligned Error matrix for ENPP5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.1/ 100

Confident

477 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)8%
Low(50–70)6%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.33
ptosis
0.31
infectious disease
0.31
severe acute respiratory syndrome
0.21
COVID-19
0.21
skeletal dysplasia
0.18
color vision disorder
0.11
skin neoplasm
0.07
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
0.06
hyperinsulinism due to INSR deficiency
0.04

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

Protein function (UniProt)

Ectonucleotide pyrophosphatase/phosphodiesterase family member 5

Can hydrolyze NAD but cannot hydrolyze nucleotide di- and triphosphates. Lacks lysopholipase D activity. May play a role in neuronal cell communication