PIGN

Chr 18q21.33

phosphatidylinositol glycan anchor biosynthesis class N

Aliases:: MCD4, PIG-N
MANE:: ENST00000640252.2

OMIM: 606097 ↗NCBI: 23556 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PIGN · O95427

v62025-08-01

Predicted Aligned Error matrix for PIGN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.2/ 100

Confident

931 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)29%
Low(50–70)6%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

multiple congenital anomalies-hypotonia-seizures syndrome 1
0.81
Multiple congenital anomalies - hypotonia - seizures syndrome
0.73
hereditary disease
0.54
multiple congenital anomalies-hypotonia-seizures syndrome
0.53
Fryns syndrome
0.38
placenta praevia
0.29
Abnormal brain morphology
0.27
upper respiratory tract disorder
0.26
cervical carcinoma
0.26
schizophrenia
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

GPI ethanolamine phosphate transferase 1

Ethanolamine phosphate transferase that catalyzes an ethanolamine phosphate (EtNP) transfer from phosphatidylethanolamine (PE) to the 2-OH position of the first alpha-1,4-linked mannose of a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol and participates in the eighth step of the glycosylphosphatidylinositol-anchor biosynthesis (By similarity). Also transfers the EtNP on a mannosyl GPI intermediate, 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) (By similarity). May act as suppressor of replication stress and chromosome missegregation (PubMed:23446422)