PPIP5K2

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]

Description

Diphosphoinositol pentakisphosphate kinase 2

Tissue specificity

Low tissue specificity

Subcell location

Vesicles

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

5 (103120149 - 103212799)

Ensembl ID

ENSG00000145725  (ver. 103.38)

Orthologs

Mouse Ppip5k2: ENSMUSG00000040648

UniProt

O43314

neXtProt

NX_O43314

Human splice variants
Mouse splice variants

Protein structure