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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIGF
phosphatidylinositol glycan anchor biosynthesis class F
Chromosome 2 · 2p21
NCBI Gene: 5281Ensembl: ENSG00000151665.13HGNC: HGNC:8962UniProt: H7C392
27PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingGPI anchor biosynthetic processendoplasmic reticulum membraneonychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeneurodegenerative diseaseRothmund-Thomson syndrome type 3Nephropathy
✦AI Summary

PIGF (phosphatidylinositol glycan anchor biosynthesis class F) is a stabilizing subunit of ethanolamine phosphate transferase complexes that catalyzes critical steps in GPI anchor biosynthesis 1. The protein mediates sequential transfer of ethanolamine phosphate groups to mannose residues on GPI anchor intermediates, participating in the tenth and eleventh biosynthetic steps in association with PIGO and PIGG 12. PIGF is localized to the endoplasmic reticulum membrane where it facilitates proper protein anchoring to the plasma membrane 3. The PIGF gene, located on chromosome 2-p21, spans approximately 40 kb across six exons and shows conserved structure and organization across species 34. Mutations in PIGF are associated with onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, reflecting the critical importance of GPI anchor biosynthesis for neurological and skeletal development. Unlike X-linked PIGA mutations, biallelic PIGF mutations are rare, accounting for limited disease prevalence. PIGF's role in GPI anchor synthesis is essential for surface expression of numerous membrane proteins critical for cellular function.

Sources cited
1
PIGF is a stabilizing subunit of ethanolamine phosphate transferase complexes that transfers ethanolamine phosphate to mannose residues in GPI anchor intermediates during steps 10-11 of biosynthesis
PMID: 15632136
2
PIGF participates in the tenth and eleventh steps of GPI-anchor biosynthesis in association with PIGO and PIGG
PMID: 33386993
3
PIGF gene is located on chromosome 2p16-p21, contains six exons spanning about 40 kb, and is involved in GPI biosynthesis
PMID: 8575782
4
PIGF gene structure, function, and genetic locus are conserved across species; murine Pigf is a functional homologue of human PIGF
PMID: 8786134
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
Rothmund-Thomson syndrome type 3Open Targets
0.34Weak
NephropathyOpen Targets
0.08Suggestive
nephritisOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
esophageal squamous cell carcinomaOpen Targets
0.06Suggestive
preeclampsiaOpen Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.05Suggestive
periodontitisOpen Targets
0.04Suggestive
fetal growth restrictionOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
multiple myelomaOpen Targets
0.03Suggestive
endometriosisOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.03Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
cardiovascular diseaseOpen Targets
0.02Suggestive
inverted urothelial papillomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndromeUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIGMShared pathway100%PIGYShared pathway100%PGAP4Shared pathway100%PIGZShared pathway100%CWH43Shared pathway100%PIGVShared pathway100%
Tissue Expression6 tissues
Heart
100%
Brain
98%
Ovary
96%
Lung
92%
Liver
82%
Bone Marrow
69%
Gene Interaction Network
Click a node to explore
PIGFPIGMPIGYPGAP4PIGZCWH43PIGV
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q07326
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.68Intermediate
Observed/Expected LoF0.18 [0.06–0.86]
RankingsWhere PIGF stands among ~20K protein-coding genes
  • #12,639of 20,598
    Most Researched27
  • #7,600of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedPIGF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Preeclampsia up to date-What's going on?
PMID: 37268721
Hypertens Res · 2023
1.00
2
PD-L1-directed PlGF/VEGF blockade synergizes with chemotherapy by targeting CD141
PMID: 36272973
Nat Commun · 2022
0.90
3
[Gestational hypertension].
PMID: 29908662
Hipertens Riesgo Vasc · 2017
0.80
4
Placental vascular morphogenesis.
PMID: 11141343
Baillieres Best Pract Res Clin Obstet Gynaecol · 2000
0.70
5
Cloning and characterization of the murine GPI anchor synthesis gene Pigf, a homologue of the human PIGF gene.
PMID: 8786134
Genomics · 1996
0.60