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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ENPP4
ectonucleotide pyrophosphatase/phosphodiesterase 4
Chromosome 6 · 6p21.1
NCBI Gene: 22875Ensembl: ENSG00000001561.8HGNC: HGNC:3359UniProt: Q9Y6X5
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomebis(5'-adenosyl)-triphosphatase activitypositive regulation of blood coagulationpurine ribonucleoside catabolic processsevere acute respiratory syndromeCOVID-19tooth diseasetemporomandibular joint disorder
✦AI Summary

ENPP4 is an ectonucleotide pyrophosphatase/phosphodiesterase that hydrolyzes extracellular diadenosine polyphosphates (Ap3A and Ap4A) into nucleotide products, releasing ADP that activates platelet aggregation and promotes blood coagulation 1. Beyond its canonical catalytic function, ENPP4 exhibits non-catalytic roles: it binds phosphatidylserine and regulates kidney patterning during nephrogenesis through s1pr5-mediated signaling independent of enzymatic activity 2. Clinically, ENPP4 has emerged as a significant disease marker across multiple pathologies. In acute myeloid leukemia (AML), ENPP4 is selectively expressed on leukemia stem cells (CD34+CD38-) but absent from normal hematopoietic stem cells and mature monocytes, making it a valuable LSC marker 3. A 4-mRNA prognostic signature including ENPP4 independently predicts overall survival in AML patients and enhances risk stratification beyond traditional factors 1. ENPP4 is implicated in multiple additional disease contexts: it appears as a causal extracellular vesicle-related gene in periodontitis pathogenesis 4, is among the top 10 differentially expressed genes in diabetes 5, correlates with fibrinolytic impairment and thrombotic risk in Klinefelter syndrome 6, serves as a biomarker for smoking-related lung squamous cell carcinoma 7, and associates with autism spectrum disorder across multiple brain regions 8.

Sources cited
1
ENPP4 regulates kidney patterning through non-catalytic binding to phosphatidylserine and s1pr5-mediated signaling
PMID: 34620987
2
ENPP4 is selectively expressed on leukemia stem cells (CD34+CD38-) in AML but absent from normal hematopoietic stem cells and mature cells
PMID: 37119247
3
ENPP4 is part of a 4-mRNA prognostic signature that independently predicts AML overall survival
PMID: 34339537
4
ENPP4 is a causal extracellular vesicle-related gene in periodontitis pathogenesis
PMID: 41138693
5
ENPP4 is among the top 10 differentially expressed genes in diabetes
PMID: 36360783
6
ENPP4 expression is elevated in Klinefelter syndrome and associates with fibrinolytic impairment and thrombotic risk
PMID: 37962976
7
ENPP4 serves as a biomarker for smoking-related lung squamous cell carcinoma diagnosis and prognosis
PMID: 31885738
8
ENPP4 associates with autism spectrum disorder across seven brain regions in enhancer-GWAS analysis
PMID: 30157312
Disease Associationsⓘ20
COVID-19Open Targets
0.30Weak
severe acute respiratory syndromeOpen Targets
0.30Weak
tooth diseaseOpen Targets
0.26Weak
temporomandibular joint disorderOpen Targets
0.25Weak
mental or behavioural disorderOpen Targets
0.10Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
ptosisOpen Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
osteoporosisOpen Targets
0.04Suggestive
postmenopausal osteoporosisOpen Targets
0.04Suggestive
Idiopathic hypercalciuriaOpen Targets
0.04Suggestive
hypophosphatemic nephrolithiasis/osteoporosis 1Open Targets
0.03Suggestive
hypophosphatemic nephrolithiasis/osteoporosis 2Open Targets
0.03Suggestive
color vision disorderOpen Targets
0.03Suggestive
melorheostosisOpen Targets
0.03Suggestive
osteoarthritis, hipOpen Targets
0.03Suggestive
external ear diseaseOpen Targets
0.03Suggestive
pyknoachondrogenesisOpen Targets
0.03Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FHITProtein interaction90%F12Shared pathway11%EMILIN2Shared pathway10%PRDX2Shared pathway10%APOHShared pathway10%ST3GAL4Shared pathway9%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
55%
Heart
33%
Lung
20%
Liver
10%
Ovary
3%
Gene Interaction Network
Click a node to explore
ENPP4FHITF12EMILIN2PRDX2APOHST3GAL4
PROTEIN STRUCTURE
Preparing viewer…
PDB4LR2 · 1.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.53 [0.35–0.83]
RankingsWhere ENPP4 stands among ~20K protein-coding genes
  • #14,420of 20,598
    Most Researched19
  • #7,161of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedENPP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ENPP4 and HOXA3 as potential leukaemia stem cell markers in acute myeloid leukaemia.
PMID: 37119247
Malays J Pathol · 2023
1.00
2
The enpp4 ectonucleotidase regulates kidney patterning signalling networks in Xenopus embryos.
PMID: 34620987
Commun Biol · 2021
0.90
3
Uncovering the Molecular Networks of Extracellular Vesicles in the Pathogenesis of Periodontitis.
PMID: 41138693
Int Dent J · 2025
0.80
4
A novel 4-mRNA signature predicts the overall survival in acute myeloid leukemia.
PMID: 34339537
Am J Hematol · 2021
0.70
5
Decoding Diabetes Biomarkers and Related Molecular Mechanisms by Using Machine Learning, Text Mining, and Gene Expression Analysis.
PMID: 36360783
Int J Environ Res Public Health · 2022
0.60