Gene: PPIP5K2

Alternate names for this Gene: CFAP160|DFNB100|HISPPD1|IP7K2|VIP2

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q21.1

Description of this Gene: diphosphoinositol pentakisphosphate kinase 2

Type of Gene: protein-coding

rs115246607 in PPIP5K2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.