GANAB

Chr 11q12.3

glucosidase II alpha subunit

Aliases:: GluII, G2AN, KIAA0088, GIIA, GIIalpha
MANE:: ENST00000356638.8

OMIM: 104160 ↗NCBI: 23193 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GANAB · Q14697

v62025-08-01

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

Mean pLDDT

92.9/ 100

Very high

944 residues

Confidence breakdown

Very high(≥ 90)89%
Confident(70–90)2%
Low(50–70)3%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ductal plate malformation
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polycystic liver disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

polycystic kidney disease 3 with or without polycystic liver disease
0.79
autosomal dominant polycystic liver disease
0.51
Isolated polycystic liver disease
0.51
autosomal dominant polycystic kidney disease
0.47
Biliary tract abnormality
0.44
COVID-19
0.37
severe acute respiratory syndrome
0.37
hereditary disease
0.19
phototoxic dermatitis
0.15
mathematical ability
0.14

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

Protein function (UniProt)

Neutral alpha-glucosidase AB

Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins (PubMed:10929008). Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia (PubMed:27259053)