Gene: ENPP3

Alternate names for this Gene: B10|CD203c|NPP3|PD-IBETA|PDNP3

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q23.2

Description of this Gene: ectonucleotide pyrophosphatase/phosphodiesterase 3

Type of Gene: protein-coding

rs9321309 in ENPP3 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs453639 in ENPP3 gene and Inorganic phosphate measurement PMID 20558539 2010 Common genetic variants associate with serum phosphorus concentration.

rs453639 in ENPP3 gene and Phosphorus measurement PMID 20558539 2010 Common genetic variants associate with serum phosphorus concentration.

rs9321309 in ENPP3 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.