ENPP5

Chr 6

ectonucleotide pyrophosphatase/phosphodiesterase family member 5

Also known as: NPP-5, NPP5

NCBI Gene: 59084ENSG00000112796UniProt: Q9UJA9

This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.47
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score 0.15
OE 0.96 (0.64–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.99 (0.90–1.10)
254 obs / 256.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.96 (0.64–1.47)
0≤0.351.4
Missense OE?0.99 (0.90–1.10)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 15 / 15.7Missense obs/exp: 254 / 256.0Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ENPP5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients