PIGO Gene
Phosphatidylinositol Glycan Anchor Biosynthesis Class O
Gene Information Card
| Symbol | PIGO |
|---|---|
| Full Name | Phosphatidylinositol glycan anchor biosynthesis class O |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 93624 ncbi.nlm.nih.gov/gene/93624 |
| Ensembl ID | ENSG00000165282 |
| UniProt ID | Q8TEQ8 |
| OMIM ID | 614730 |
| HGNC ID | 23215 |
| Aliases | FLJ00118, GPI biosynthesis class O protein |
Description
The PIGO gene encodes phosphatidylinositol glycan anchor biosynthesis class O protein, a component of the glycosylphosphatidylinositol (GPI)-anchor transamidase complex. This complex is essential for attaching GPI anchors to proteins, tethering them to the cell membrane. PIGO specifically catalyzes the transfer of GPI anchors to precursor proteins in the endoplasmic reticulum. Mutations in PIGO cause hyperphosphatasia with mental retardation syndrome 2 (HPMRS2), a disorder characterized by intellectual disability, seizures, and elevated alkaline phosphatase levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) | Loss-of-function mutations in PIGO impair GPI anchor attachment, leading to reduced cell surface expression of GPI-anchored proteins, disrupting neuronal development and signaling. | OMIM #614749; ClinVar; multiple case reports (e.g., Krawitz et al., 2012) |
| Intellectual disability (non-syndromic) | Homozygous or compound heterozygous PIGO variants cause global developmental delay and cognitive impairment via defective GPI anchoring. | ClinVar; PMID: 22985903 |
| Seizures | GPI anchor deficiency due to PIGO mutations alters synaptic protein localization, increasing neuronal excitability. | OMIM; PMID: 22985903 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Testis | 15.2 | Medium |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression in embryonic kidney cells |
| HeLa | 9.5 | Moderate expression in cervical cancer cells |
| K562 | 7.2 | Low expression in leukemia cells |
| HepG2 | 8.8 | Moderate expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1462C>T (p.Arg488*) | Nonsense | Rare | Loss of function; premature truncation of PIGO protein |
| c.1075G>A (p.Gly359Arg) | Missense | Rare | Impaired GPI transamidase activity; associated with HPMRS2 |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation; severe phenotype |
Mutation functional classification
Loss of Function (LOF)
Most PIGO mutations are loss-of-function, reducing or abolishing GPI anchor attachment, leading to HPMRS2.
Gain of Function (GOF)
No gain-of-function mutations reported for PIGO.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GPI anchor biosynthetic process | • GPI-anchor transamidase activity |
| • endoplasmic reticulum membrane | • integral component of membrane |
| • protein glycosylation |
Pathways
• Glycosylphosphatidylinositol (GPI)-anchor biosynthesis (KEGG: hsa00563)
• GPI-anchor transamidation (Reactome: R-HSA-162791)
Protein Summary
PIGO is a 1,089-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It functions as the catalytic subunit of the GPI transamidase complex, cleaving a C-terminal signal peptide from precursor proteins and attaching a pre-assembled GPI anchor. The protein contains a conserved catalytic cysteine residue essential for transamidation. Defects in PIGO disrupt GPI anchoring, leading to loss of cell surface proteins such as alkaline phosphatase and neural adhesion molecules.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIGO Knockout HEK293 Cell Line | EDJ-KQ218 | Human | 84720 | Details Get a Quote |
| PIGO Knockout HCT 116 Cell Line | EDJ-KQ36061 | Human | 84720 | Details Get a Quote |
| PIGO Knockout A-549 Cell Line | EDJ-KQ37299 | Human | 84720 | Details Get a Quote |
| PIGO Knockout HeLa Cell Line | EDJ-KQ37301 | Human | 84720 | Details Get a Quote |
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