PIGO

Chr 9AR

phosphatidylinositol glycan anchor biosynthesis class O

Also known as: HPMRS2, hGPCR43

The protein transfers ethanolaminephosphate to the third mannose in glycosylphosphatidylinositol (GPI) anchor biosynthesis, which anchors proteins to cell surfaces including blood cells. Autosomal recessive mutations cause hyperphosphatasia with impaired intellectual development syndrome 2. The pathogenic mechanism involves loss of function leading to defective GPI anchor formation.

OMIMResearchSummary from RefSeq, OMIM, UniProt, Mechanism
LOFmechanismARLOEUF 0.811 OMIM phenotype
Clinical SummaryPIGO
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Gene-Disease Validity (ClinGen)
complex neurodevelopmental disorder · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.81LOEUF
pLI 0.000
Z-score 2.50
OE 0.57 (0.410.81)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.96Z-score
OE missense 0.89 (0.830.96)
549 obs / 615.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.57 (0.410.81)
00.351.4
Missense OE0.89 (0.830.96)
00.61.4
Synonymous OE1.08
01.21.6
LoF obs/exp: 23 / 40.1Missense obs/exp: 549 / 615.8Syn Z: -0.94
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitivePIGO-related hyperphosphatasia with intellectual developmental disorder syndromeLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.7133th %ile
GOF
0.5760th %ile
LOF
0.2969th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PIGO · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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