PPIP5K2 (Entrez ID: 23262)

Entrez Gene ID 23262
Official Gene Symbol PPIP5K2 (GeneCards)
Full name diphosphoinositol pentakisphosphate kinase 2
Location 5q21.1
Other ids Vega : OTTHUMG00000181461
MIM : 611648
HGNC : HGNC:29035
Ensembl : ENSG00000145725
Other names VIP2, IP7K2, CFAP160, HISPPD1
Summary This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]

Variants

Found 2 variants in this database.