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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PIGG
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Chromosome 4 Β· 4p16.3
NCBI Gene: 54872Ensembl: ENSG00000174227.16HGNC: HGNC:25985UniProt: D6RFE8
47PubMed Papers
21Diseases
0Drugs
88Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GPI anchor biosynthetic processprotein bindingtransferase activitymannose-ethanolamine phosphotransferase activityintellectual disability, autosomal recessive 53autosomal recessive non-syndromic intellectual disabilitygenetic disorderhyperphosphatasia-intellectual disability syndrome
✦AI Summary

PIGG encodes the catalytic subunit of ethanolamine phosphate transferase 2, which catalyzes the transfer of ethanolamine phosphate from phosphatidylethanolamine to the sixth position of the second alpha-1,6-linked mannose during glycosylphosphatidylinositol (GPI) anchor biosynthesis 1. This enzyme catalyzes the eleventh step of GPI anchor synthesis, generating mature anchors that tether surface proteins to cell membranes. GPI-anchored proteins are essential for cellular functions including immune signaling and cell adhesion. Pathogenic PIGG variants cause inherited GPI deficiency (IGD), characterized by variable neurological manifestations depending on enzymatic activity levels 1. Individuals with null or severely decreased PIGG activity present with hypotonia, intellectual disability/developmental delay, seizures, cerebellar atrophy, and mitochondrial dysfunction, while those with mildly decreased activity exhibit autism spectrum disorder 1. Fibroblasts from affected individuals show decreased surface levels of the GPI-anchored protein CD73 1. Recent epigenetic studies identified hypomethylated PIGG loci associated with incident acute coronary syndrome, with increased leukocyte expression in atherosclerotic plaques, suggesting roles beyond neurological disease 2. Clinical diagnosis is facilitated by whole-genome sequencing, which outperforms conventional testing in identifying PIGG variants 3. Understanding PIGG function advances knowledge of GPI biosynthesis-related neurological disorders and potential cardiovascular disease mechanisms.

Sources cited
1
PIGG catalyzes the eleventh step of GPI anchor biosynthesis; pathogenic variants cause inherited GPI deficiency with hypotonia, intellectual disability, seizures, cerebellar atrophy, mitochondrial dysfunction, or autism depending on activity level
PMID: 34113002
2
PIGG hypomethylation is associated with incident acute coronary syndrome and overexpression in leukocytes and atheroma plaques
PMID: 39198424
3
Whole-genome sequencing identified PIGG variants with higher diagnostic yield compared to conventional genetic testing in pediatric genetic disorders
PMID: 28771251
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
intellectual disability, autosomal recessive 53Open Targets
0.84Strong
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.57Moderate
genetic disorderOpen Targets
0.51Moderate
hyperphosphatasia-intellectual disability syndromeOpen Targets
0.34Weak
smoking initiationOpen Targets
0.30Weak
SeizureOpen Targets
0.27Weak
diabetes mellitusOpen Targets
0.25Weak
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizuresOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.22Weak
type 2 diabetes mellitusOpen Targets
0.16Weak
Ichthyosis - hepatosplenomegaly - cerebellar degenerationOpen Targets
0.05Suggestive
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndromeOpen Targets
0.05Suggestive
infectionOpen Targets
0.04Suggestive
Autoimmune HepatitisOpen Targets
0.04Suggestive
epilepsy, progressive myoclonic, 12Open Targets
0.04Suggestive
gallbladder diseaseOpen Targets
0.04Suggestive
gallbladder disease 1Open Targets
0.04Suggestive
cholelithiasisOpen Targets
0.03Suggestive
pharyngitisOpen Targets
0.02Suggestive
candidiasisOpen Targets
0.01Suggestive
Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyUniProt
Pathogenic Variants88
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)Pathogenic
Intellectual disability, autosomal recessive 53|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 304
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 568
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)Pathogenic
Intellectual disability, autosomal recessive 53|not provided|Emm-null phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 874
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)Pathogenic
not provided|Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 115
NM_001127178.3(PIGG):c.2569C>T (p.Gln857Ter)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 857
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)Likely pathogenic
not provided|Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 851
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)Pathogenic
Intellectual disability, autosomal recessive 53|not provided|BLOOD GROUP, EMM SYSTEM;Intellectual disability, autosomal recessive 53|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 505
NM_001127178.3(PIGG):c.1106_1107del (p.Ser368_Tyr369insTer)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 368
NM_001127178.3(PIGG):c.766G>T (p.Glu256Ter)Pathogenic
Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 256
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter)Pathogenic
not provided|Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 388
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs)Pathogenic
not provided|Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 876
NM_001127178.3(PIGG):c.928C>T (p.Gln310Ter)Pathogenic
Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 310
NM_001127178.3(PIGG):c.901+1delPathogenic
Intellectual disability, autosomal recessive 53|not provided|Malignant lymphoma, large B-cell, diffuse
β˜…β˜…β˜†β˜†2025
NM_001127178.3(PIGG):c.1A>G (p.Met1Val)Likely pathogenic
Seizure|Intellectual disability, autosomal recessive 53
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_001127178.3(PIGG):c.2244dup (p.Ser749fs)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 749
NM_001127178.3(PIGG):c.785del (p.Leu262fs)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 262
NM_001127178.3(PIGG):c.1285dup (p.Gln429fs)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 429
NM_001127178.3(PIGG):c.1956G>A (p.Trp652Ter)Pathogenic
Intellectual disability, autosomal recessive 53|PIGG-related disorder|Malignant tumor of urinary bladder
β˜…β˜…β˜†β˜†2023β†’ Residue 652
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 580
NM_001127178.3(PIGG):c.1231C>T (p.Gln411Ter)Pathogenic
Intellectual disability, autosomal recessive 53|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 411
View on ClinVar β†—
Related Genes
PIGNShared pathway100%PGAP2Shared pathway100%PIGYShared pathway100%PIGOShared pathway100%PGAP4Shared pathway100%CWH43Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Lung
74%
Bone Marrow
64%
Liver
61%
Heart
39%
Brain
29%
Gene Interaction Network
Click a node to explore
PIGGPIGNPGAP2PIGYPIGOPGAP4CWH43
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q5H8A4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.11LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.90 [0.73–1.11]
RankingsWhere PIGG stands among ~20K protein-coding genes
  • #9,254of 20,598
    Most Researched47
  • #861of 5,498
    Most Pathogenic Variants88 Β· top quartile
  • #11,376of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedPIGG
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A Crossover Trial of Hospital-Wide Lactated Ringer's Solution versus Normal Saline.
PMID: 40503714
N Engl J Med Β· 2025
1.00
2
New International Classification of Orofacial Pain: What Is in It For Endodontists?
PMID: 33340605
J Endod Β· 2021
0.90
3
Genome-wide DNA methylation profiling in blood reveals epigenetic signature of incident acute coronary syndrome.
PMID: 39198424
Nat Commun Β· 2024
0.80
4
Temporomandibular disorders: INfORM/IADR key points for good clinical practice based on standard of care.
PMID: 39360749
Cranio Β· 2025
0.70
5
Orofacial pain for clinicians: A review of constant and attack-like facial pain syndromes.
PMID: 37548299
Cephalalgia Β· 2023
0.60