PGAP2 Gene Summary [Human]
The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PGAP2 |
| Official Name | post-GPI attachment to proteins 2 [Source:HGNC Symbol;Acc:HGNC:17893] |
| Ensembl ID | ENSG00000148985 |
| Bio databases IDs | |
| Aliases | post-GPI attachment to proteins 2, FGF receptor activating protein 1, cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) |
| Synonyms | 1810006G21RIK, C76649, clpex, CWH43-N, FRAG1, HPMRS3, MRT17, MRT21, post-GPI attachment to proteins 2 |
| 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 PGAP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Frag1/DRAM/Sfk1 family
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- cellular membrane
- Golgi Apparatus
- endoplasmic reticulum membrane
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PGAP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GPI anchor biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- Golgi membrane
Molecular Function
What the gene product does at the molecular level
- protein binding