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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIGX
phosphatidylinositol glycan anchor biosynthesis class X
Chromosome 3 · 3q29
NCBI Gene: 54965Ensembl: ENSG00000163964.18HGNC: HGNC:26046UniProt: Q8TBF5
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
endoplasmic reticulum membraneGPI anchor biosynthetic processseizures, early-onset, with neurodegeneration and brain calcificationsBardet-Biedl syndromeneurodegenerative diseaseallergic disease
✦AI Summary

PIGX (phosphatidylinositol glycan anchor biosynthesis class X) encodes a regulatory subunit of the glycosylphosphatidylinositol (GPI)-mannosyltransferase I complex 1. As a stabilizing subunit, PIGX facilitates the transfer of the first mannose residue to GPI core structures, a critical early step in GPI-anchor biosynthesis that enables attachment of diverse proteins to cell membranes 1. These GPI-anchored proteins localize to lipid rafts and function as cell co-receptors, enzymes, and adhesion molecules 1. Beyond its canonical GPI-biosynthetic role, PIGX participates in cancer biology through interaction with reticulocalbin proteins (RCN1/RCN2), where the RCN1/PIGX/RCN2 complex negatively regulates tumor suppressors ZIC1 and EHD2, promoting breast cancer cell proliferation 2. PIGX upregulation is frequently observed in breast cancer, suggesting oncogenic potential 2. Additionally, PIGX appears in gene fusion events associated with therapeutic responses; PAK2::PIGX fusions were identified in patients with PDGFRA/B-negative hypereosinophilic syndrome responding to imatinib treatment 34. Germline PIGX mutations have been identified as potentially pathogenic variants in young never-smokers with lung adenocarcinoma, suggesting involvement in cancer predisposition 5. The protein's complex regulatory interactions indicate broader roles in cellular homeostasis beyond GPI biosynthesis.

Sources cited
1
PIGX encodes the regulatory subunit of GPI-mannosyltransferase I; GPI-anchored proteins function as cell co-receptors, enzymes, and adhesion molecules
PMID: 38414627
2
PIGX is upregulated in breast cancer; RCN1/PIGX/RCN2 complex negatively regulates tumor suppressors ZIC1 and EHD2, promoting cancer cell proliferation
PMID: 27572108
3
PAK2::PIGX fusion identified in hypereosinophilic syndrome patients with sustained response to imatinib treatment
PMID: 39389908
4
PAK2::PIGX fusion associated with imatinib response in PDGFRA/B-negative hypereosinophilic syndrome
PMID: 39468717
5
PIGX germline mutations identified as potentially pathogenic variants in young never-smokers with lung adenocarcinoma
PMID: 37197646
Disease Associationsⓘ20
seizures, early-onset, with neurodegeneration and brain calcificationsOpen Targets
0.52Moderate
Bardet-Biedl syndromeOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.31Weak
allergic diseaseOpen Targets
0.31Weak
morbid obesityOpen Targets
0.30Weak
obesity due to CEP19 deficiencyOpen Targets
0.30Weak
genetic disorderOpen Targets
0.19Weak
alcohol drinkingOpen Targets
0.18Weak
systemic lupus erythematosusOpen Targets
0.15Weak
optic atrophyOpen Targets
0.11Weak
breast cancerOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
intracranial hemorrhageOpen Targets
0.03Suggestive
skull disorderOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
benign prostatic hyperplasiaOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIGAShared pathway100%PIGCShared pathway100%PIGFShared pathway100%PIGHShared pathway100%PIGLShared pathway100%PIGBShared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
42%
Lung
28%
Ovary
27%
Bone Marrow
27%
Liver
23%
Gene Interaction Network
Click a node to explore
PIGXPIGAPIGCPIGFPIGHPIGLPIGB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TBF5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.74LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.91 [0.47–1.74]
RankingsWhere PIGX stands among ~20K protein-coding genes
  • #14,775of 20,598
    Most Researched18
  • #16,281of 17,882
    Most Constrained (LOEUF)1.74
Genes detectedPIGX
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Role of
PMID: 38414627
Biomed Rep · 2024
1.00
2
Phase II trial of imatinib mesylate in patients with PDGFRA/B-negative hypereosinophilic syndrome.
PMID: 39389908
Br J Haematol · 2024
0.90
3
Phosphatidylinositol glycan anchor biosynthesis, class X containing complex promotes cancer cell proliferation through suppression of EHD2 and ZIC1, putative tumor suppressors.
PMID: 27572108
Int J Oncol · 2016
0.80
4
Virulence and prodigiosin antibiotic biosynthesis in Serratia are regulated pleiotropically by the GGDEF/EAL domain protein, PigX.
PMID: 17766413
J Bacteriol · 2007
0.70
5
SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution.
PMID: 36228784
Sci Total Environ · 2022
0.60