AlphaFold predicted structure
PIGG · Q5H8A4

Mean pLDDT
83.1/ 100
Confident
983 residues
Confidence breakdown
- Very high(≥ 90)48%
- Confident(70–90)36%
- Low(50–70)9%
- Very low(< 50)6%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalintellectual disability, autosomal recessive 53
neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures
hereditary disease
hyperphosphatasia-intellectual disability syndrome
smoking initiation
diabetes mellitus
Seizure
neurodegenerative disease
type 2 diabetes mellitus
infection
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
GPI ethanolamine phosphate transferase 2, catalytic subunit
Catalytic subunit of the ethanolamine phosphate transferase 2 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the second alpha-1,6-linked mannose of a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-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 (also termed H7) intermediate to generate a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-6-phosphoethanolamine-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 (also termed H8) and participates in the eleventh step of the glycosylphosphatidylinositol-anchor biosynthesis
PIGG · Q5H8A4

Mean pLDDT
83.1/ 100
Confident
983 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0