ENPP3

Chr 6

ectonucleotide pyrophosphatase/phosphodiesterase 3

Also known as: B10, CD203c, NPP3, PD-IBETA, PDNP3

The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]

ResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
1.02
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.40
OE 0.79 (0.611.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.07Z-score
OE missense 0.99 (0.921.07)
463 obs / 467.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.611.02)
00.351.4
Missense OE?0.99 (0.921.07)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 41 / 51.9Missense obs/exp: 463 / 467.5Syn Z: -0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ENPP3 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →