BPNT2 Gene Summary [Human]
This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | BPNT2 |
| Official Name | 3'(2'), 5'-bisphosphate nucleotidase 2 [Source:HGNC Symbol;Acc:HGNC:26019] |
| Ensembl ID | ENSG00000104331 |
| Bio databases IDs | |
| Aliases | 3'(2'), 5'-bisphosphate nucleotidase 2, golgi-resident nucleotide phosphatase, Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase |
| Synonyms | 1110001C20Rik, 3'(2'), 5'-bisphosphate nucleotidase 2, B230207P20, GPAPP, IMP-3, IMPA3, IMPAD1, IMPase 3, Jaws, RGD1306455 |
| 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 BPNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3'-nucleotidase
- phosphatase
- inositol-1(or 4)-monophosphatase
- enzyme
- Inositol monophosphatase family
- FIG
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- alcoholism
- hypoplasia
- GPAPP type chondrodysplasia with joint dislocations
- organismal death
- cleft palate
role in cell
- expression in
- migration
- invasion by
- endochondral ossification by
- development
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
- Golgi lumen
- Golgi Apparatus
- cytosol
- trans Golgi network
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BPNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- skeletal system development
- post-embryonic development
- endochondral ossification
- chondrocyte development
- phosphatidylinositol phosphorylation
- chondroitin sulfate metabolic process
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- nuclear body
- membrane
- cytosol
- endomembrane system
- Golgi apparatus
- Golgi lumen
- trans-Golgi network membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 3'(2'),5'-bisphosphate nucleotidase activity
- 3'-nucleotidase activity
- metal ion binding