PGAP2

Chr 11p15.4

post-GPI attachment to proteins 2

Aliases:: FRAG1, CWH43-N
MANE:: ENST00000278243.9

OMIM: 615187 ↗NCBI: 27315 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PGAP2 · Q9UHJ9

v62025-08-01

Predicted Aligned Error matrix for PGAP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.1/ 100

Very high

254 residues

Confidence breakdown

Very high(≥ 90)72%
Confident(70–90)19%
Low(50–70)6%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
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
Childhood onset dystonia, chorea or related movement disorder
Clefting
Unknown

Disease associations (Open Targets)

hyperphosphatasia-intellectual disability syndrome
0.73
Intellectual disability
0.60
hereditary disease
0.34
genetic developmental and epileptic encephalopathy
0.27
Dysequilibrium syndrome
0.27
familial hemolytic anemia
0.18
omphalocele
0.12
Micrognathia
0.12
Hypoplasia of the corpus callosum
0.12
amelogenesis imperfecta
0.08

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

Protein function (UniProt)

Acyltransferase PGAP2

Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain. May catalyze the second step of the fatty acid remodeling, by reacylating a lyso-GPI intermediate at sn-2 of inositol phosphate by a saturated chain (By similarity). The fatty acid remodeling steps is critical for the integration of GPI-APs into lipid rafts (PubMed:23561846)