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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PIGZ
phosphatidylinositol glycan anchor biosynthesis class Z (Gwada blood group)
Chromosome 3 · 3q29
NCBI Gene: 80235Ensembl: ENSG00000119227.9HGNC: HGNC:30596UniProt: B4DL68
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GPI anchor biosynthetic processmannosyltransferase activityendoplasmic reticulumdol-P-Man:Man(3)GlcN-acyl-PI alpha-1,2-mannosyltransferase activityhypotensionMODYmaturity-onset diabetes of the young type 3maturity-onset diabetes of the young type 10
✦AI Summary

PIGZ (phosphatidylinositol glycan anchor biosynthesis class Z) encodes an alpha-1,2-mannosyltransferase that catalyzes the addition of a fourth mannose residue to glycosylphosphatidylinositol (GPI) anchors via an alpha-1,2 glycosidic bond, converting the H6 intermediate to M4C during the twelfth step of GPI biosynthesis 1. This fourth mannose addition is facultative and tissue-specific, with highest expression in brain and colon 2. PIGZ localized to the endoplasmic reticulum membrane, participates in post-translational modification of both protein-linked and free GPIs on the plasma membrane 1. Clinically, rare PIGZ variants show sex-specific associations with chr3 central serous chorioretinopathy in females, with 45.5% of female patients carrying rare variants compared to 18.5% of controls 3. PIGZ has been identified as a potential prognostic biomarker in pituitary adenoma invasiveness 4 and in WHO grade II/III glioma classification 5. Additionally, PIGZ loci associate with serum calcium levels in genome-wide association studies 6. A pig model with PIGZ mutations (CF pigz model) demonstrates its role in regulating inflammatory responses in cystic fibrosis 7.

Sources cited
1
PIGZ adds a fourth mannose to GPI anchors and inhibits T5 mAb detection of free GPIs; PIGZ resides in endoplasmic reticulum membrane
PMID: 30728244
2
Human SMP3/PIGZ encodes alpha-1,2-mannosyltransferase that adds fourth mannose to GPI precursors; highest expression in brain and colon, nearly absent from cultured cell lines; tissue-specific function
PMID: 15208306
3
PIGZ rare variants show sex-specific association with chronic central serous chorioretinopathy in females (45.5% vs 18.5% in controls)
PMID: 31036833
4
PIGZ identified as upregulated hub gene associated with invasiveness of pituitary adenoma
PMID: 32342269
5
PIGZ among 16 prognostic-related genes for WHO grade II/III glioma classification with 95.5% accuracy
PMID: 34455959
6
PIGZ-MELTF locus associated with serum calcium element levels in genome-wide association study
PMID: 34417961
7
CF pigz model used to demonstrate flagellin-mediated regulation of inflammatory response in cystic fibrosis
PMID: 34102087
Disease Associationsⓘ20
hypotensionOpen Targets
0.24Weak
MODYOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
maturity-onset diabetes of the young type 10Open Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.03Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.03Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.03Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.03Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.03Suggestive
breast benign neoplasmOpen Targets
0.02Suggestive
ulcerative colitisOpen Targets
0.02Suggestive
childhood supratentorial ependymomaOpen Targets
0.01Suggestive
colorectal adenocarcinomaOpen Targets
0.01Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
goutOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
visceral LeishmaniasisOpen Targets
0.01Suggestive
inflammatory bowel diseaseOpen Targets
0.00Suggestive
myeloid leukemiaOpen 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
Heart
100%
Lung
46%
Brain
42%
Liver
40%
Bone Marrow
37%
Ovary
10%
Gene Interaction Network
Click a node to explore
PIGZPIGAPIGCPIGFPIGHPIGLPIGB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86VD9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.43LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.68–1.43]
RankingsWhere PIGZ stands among ~20K protein-coding genes
  • #16,857of 20,598
    Most Researched11
  • #14,718of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedPIGZ
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Exome sequencing in patients with chronic central serous chorioretinopathy.
PMID: 31036833
Sci Rep · 2019
1.00
2
Identification of WHO II/III Gliomas by 16 Prognostic-related Gene Signatures using Machine Learning Methods.
PMID: 34455959
Curr Med Chem · 2022
0.90
3
Identification of gene co-expression modules and hub genes associated with the invasiveness of pituitary adenoma.
PMID: 32342269
Endocrine · 2020
0.80
4
Airway Administration of Flagellin Regulates the Inflammatory Response to
PMID: 34102087
Am J Respir Cell Mol Biol · 2021
0.70
5
[Whole Exome Sequencing Reveals Gene Mutation Characteristics of Primary Central Nervous System Lymphoma].
PMID: 38926963
Zhongguo Shi Yan Xue Ye Xue Za Zhi · 2024
0.60