PPA2 Gene Summary [Human]
The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PPA2 |
| Official Name | inorganic pyrophosphatase 2 [Source:HGNC Symbol;Acc:HGNC:28883] |
| Ensembl ID | ENSG00000138777 |
| Bio databases IDs | |
| Aliases | inorganic pyrophosphatase 2 |
| Synonyms | 1110013G13RIK, HSPC124, inorganic pyrophosphatase 2, pyrophosphatase (inorganic) 2, RGD1307965, SCFAI, SCFI, SID6-306 |
| 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 PPA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Inorganic pyrophosphatase
- protein serine/threonine phosphatase
- pyrophosphatase
- enzyme
- protein binding
- inorganic diphosphatase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- breast carcinoma
- infantile sudden cardiac failure
- pervasive developmental disorder
- alcohol-induced sudden cardiac failure
- irritable bowel syndrome
- insomnia
regulates
- pyrophosphate
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
- Mitochondria
- mitochondrial matrix
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PPA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of mitochondrial membrane potential
- diphosphate metabolic process
- phosphate-containing compound metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- synapse
Molecular Function
What the gene product does at the molecular level
- protein serine/threonine phosphatase activity
- magnesium ion binding
- inorganic diphosphatase activity