PPIP5K2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PPIP5K2 |
| Official Name | diphosphoinositol pentakisphosphate kinase 2 [Source:HGNC Symbol;Acc:HGNC:29035] |
| Ensembl ID | ENSG00000145725 |
| Bio databases IDs | |
| Aliases | diphosphoinositol pentakisphosphate kinase 2 |
| Synonyms | CFAP160, D330021B20, DFNB100, diphosphoinositol pentakisphosphate kinase 2, HISPPD1, IP7K2, mKIAA0433, VIP2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PPIP5K2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- diphosphoinositol-pentakisphosphate kinase
- phosphate group acceptor phosphotransferase
- inositol-hexakisphosphate kinase
- ATP binding
- Histidine phosphatase superfamily (branch 2)
- protein binding
- Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
- Histidine phosphatase domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- organismal death
- autosomal recessive deafness type 100
- insomnia
- colorectal carcinoma
- colorectal carcinomagenesis
role in cell
- migration
- proliferation
- binding in
- DNA damage repair in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PPIP5K2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- inositol phosphate biosynthetic process
- inositol phosphate metabolic process
- inositol metabolic process
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- inositol heptakisphosphate kinase activity
- diphosphoinositol-pentakisphosphate kinase activity
- protein binding
- inositol hexakisphosphate kinase activity
- inositol-1,3,4,5,6-pentakisphosphate kinase activity
- inositol hexakisphosphate 5-kinase activity
- inositol hexakisphosphate 3-kinase activity
- inositol hexakisphosphate 1-kinase activity