DISEASES

Disease-gene associations mined from literature

Literature associating ENPP2 and intrahepatic cholestasis of pregnancy

ENPP2 [ENSP00000259486]

Ectonucleotide pyrophosphatase/phosphodiesterase family member 2; Hydrolyzes lysophospholipids to produce lysophosphatidic acid (LPA) in extracellular fluids. Major substrate is lysophosphatidylcholine. Also can act on sphingosylphosphphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility. Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP. Involved in several motility- related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation. Stimulates migration of melanoma cells, probably via a pertussis toxin-sensitive G protein. May have a role in induction of parturition. Possible involvement in cell proliferation and adipose tissue development. Tumor cell motility-stimulating factor.

Synonyms:  ENPP2,  ENPP2p,  hENPP2,  E5RIA2,  E5RIB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM