PIGN Gene - Phosphatidylinositol Glycan Anchor Biosynthesis Class N
Comprehensive gene card for PIGN, a key enzyme in GPI anchor biosynthesis, associated with multiple congenital anomalies and intellectual disability.
Gene Information Card
| Symbol | PIGN |
|---|---|
| Full Name | Phosphatidylinositol glycan anchor biosynthesis class N |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.33 |
| NCBI Gene ID | 51227 ncbi.nlm.nih.gov/gene/51227 |
| Ensembl ID | ENSG00000101695 |
| UniProt ID | O95427 |
| OMIM ID | 606097 |
| HGNC ID | 8967 |
| Aliases | MCD4, GPI7, PIG-N, MCAHS1 |
Description
PIGN encodes an enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchors, which tether proteins to the cell membrane. The protein catalyzes the transfer of phosphoethanolamine to the first mannose of the GPI core structure. Mutations in PIGN cause multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) and are associated with intellectual disability and dysmorphic features.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) | Loss-of-function mutations impair GPI anchor biosynthesis, leading to deficient cell surface expression of GPI-anchored proteins. | ClinVar, OMIM |
| Intellectual disability, autosomal recessive 55 | Homozygous or compound heterozygous mutations disrupt GPI anchor pathway, affecting neuronal development. | ClinVar, OMIM |
| GPI biosynthesis defect 1 | Deficiency in GPI anchor assembly due to PIGN mutations results in multisystem developmental abnormalities. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 8.9 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| K562 | 9.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| HepG2 | 5.6 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of function; premature termination |
| c.1567G>A (p.Gly523Arg) | Missense | Rare | Likely loss of function; impaired catalytic activity |
| c.2002C>T (p.Arg668Trp) | Missense | Rare | Uncertain significance; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Most reported PIGN mutations are loss-of-function (nonsense, frameshift, splice-site), leading to reduced or absent GPI anchor synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PIGN.
Dominant Negative (DN)
No dominant-negative effects have been described; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GPI anchor biosynthetic process (GO:0006506) | • transferring phosphorus-containing groups (GO:0016772) |
| • Membrane (GO:0016020) | • Endoplasmic reticulum (GO:0005783) |
Pathways
• GPI anchor biosynthesis (KEGG: hsa00563)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
PIGN is a 1082-amino acid protein localized to the endoplasmic reticulum membrane. It functions as a phosphoethanolamine transferase, adding phosphoethanolamine to the first mannose of the GPI anchor precursor. This modification is essential for the attachment of GPI-anchored proteins to the cell surface. Defects in PIGN lead to a spectrum of neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIGN Knockout HEK293 Cell Line | EDJ-KQ8069 | Human | 23556 | Details Get a Quote |
| PIGN Knockout A-549 Cell Line | EDJ-KQ33896 | Human | 23556 | Details Get a Quote |
| PIGN Knockout HCT 116 Cell Line | EDJ-KQ33897 | Human | 23556 | Details Get a Quote |
| PIGN Knockout HeLa Cell Line | EDJ-KQ33898 | Human | 23556 | Details Get a Quote |
