PIGB

Chr 15q21.3

phosphatidylinositol glycan anchor biosynthesis class B

Aliases:: PIG-B, GPI-MT-III
MANE:: ENST00000164305.10

OMIM: 604122 ↗NCBI: 9488 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

PIGB · Q92521

v62025-08-01

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

Mean pLDDT

88.1/ 100

Confident

554 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)8%
Low(50–70)1%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.69
neurodegenerative disease
0.41
hereditary disease
0.19
hyperphosphatasia-intellectual disability syndrome
0.12
alcohol drinking
0.11
rheumatic disorder
0.04
premature birth
0.03
Abnormality of the skeletal system
0.03
osteoarthritis, hand
0.02
infection
0.02

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

Protein function (UniProt)

GPI alpha-1,2-mannosyltransferase 3

Alpha-1,2-mannosyltransferase that catalyzes the transfer of the third mannose, via an alpha-1,2 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to 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 intermediate to generate a 2-acyl-6-[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 H6) and participates in the nineth step of the glycosylphosphatidylinositol-anchor biosynthesis (Probable). May also add the third mannose to 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 generating a 2-acyl-6-(alpha-D-mannosyl-(1->2)-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 H4) (Probable)